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Literature summary for 2.4.1.41 extracted from
- Polypeptide N-acetylgalactosaminyltransferase-associated phenotypes in mammals (2021), Molecules, 26, 5504.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| gene GALNT10, quantitative real-time PCR enzyme expression analysis | Homo sapiens |
| gene GALNT10, quantitative real-time PCR enzyme expression analysis | Rattus norvegicus |
| gene GALNT15, cloning from cDNA of human cerebellum | Homo sapiens |
| gene GALNT2, cloned from a cDNA library of the gastric tumor cell line MKN45 | Homo sapiens |
| gene GALNT8, cloned as an autosomal dominant hypophosphatemic rickets (ADHR) candidate gene from human fetal brain. GALNT8 is highly polymorphic, but no substitutions are ADHR-related, quantitative real-time PCR enzyme expression analysis | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| D314A | site-directed mmutagenesis, the GalNAc-T2D314A heterozygous mutation does not raise plasma HDL-C levels in humans, instead, a GalNAc-T2D314A homozygote has low HDL-C levels | Homo sapiens |
| E592stop | naturally occurring mutation, the mutation abolishes the O-glycosylation of Thr178 of FGF23 | Homo sapiens |
| M1K | naturally occurring mutation, the missense mutation in the ATG start codon leads to complete loss of the entire GalNAc-T3 protein, while stop and frameshift mutations cause loss-of-function of the catalytic or lectin domains | Homo sapiens |
| additional information | a modest increase in GALNT2 expression increases HDL-C levels | Homo sapiens |
| additional information | liver-specific overexpression of Galnt2 using an adenoassociated virus (AAV) vector expression system reduces HDL-C levels, while shRNA-mediated knockdown of hepatic Galnt2 raises HDL-C in mice | Mus musculus |
| additional information | T-cell specific depletion of gene Galnt13 in mice results in no phenotype | Mus musculus |
| additional information | a heterozygous intragenic deletion of 123 kb in GALNT14 is identified in an intestinal malrotation case by analysis of array comparative genomic hybridization (aCGH) data. A homozygous frameshift in GALNT14 (c.[60del]or p.[Leu21Cysfs*6]) has been identified as the genetic cause of Keratoconus in two cases | Homo sapiens |
| additional information | GALNT17 polymorphism is associated with athletic performance. GALNT17 rs558129T mutation allele carriers have significantly higher power values in aWingate anaerobic test than those with the CC genotype. The T allele is overrepresented in power athletes compared with both endurance athletes and controls. Therefore, the GALNT17 (GALNTL6) rs558129 T mutant allele could be favorable for anaerobic performance and strength of athletes | Homo sapiens |
| P529T | naturally occurring mutation, the mutation abolishes the O-glycosylation of Thr178 of FGF23 | Homo sapiens |
| R425stop | GALNT14 with homozygous mutation in exon13 (c.[1273C>T]) resulting in truncation of over 75% of the protein sequence has been linked to embryonic lethality | Homo sapiens |
| V506I | naturally occurring mutation | Homo sapiens |
| W589R | naturally occurring mutation, Galnt3-deficient or N-ethyl-N-nitrosourea (ENU)-induced GalNAc-T3W589R mutated mice show moderate phenotypes of hyperphosphatemic tumoral carcinosis with decreased alkaline phosphatase activity and intact furin-like proprotein convertase processing site of phosphaturic factor, FGF23, levels. Galnt3-deficient mice do not develop ectopic calcification, which is a phenotype in human HFTC, but GalNAc-T3W589R mice have this phenotype | Mus musculus |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| endoplasmic reticulum | human GalNAc-T18 is distributed in the endoplasmic reticulum (ER), rather than in the Golgi apparatus, where other GalNAc-Ts are located | Homo sapiens | 5783 | - |
| Golgi apparatus | - |
Mus musculus | 5794 | - |
| Golgi apparatus | - |
Homo sapiens | 5794 | - |
| Golgi apparatus | - |
Rattus norvegicus | 5794 | - |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| UDP-N-acetyl-alpha-D-galactosamine + [equatorin]-L-Thr138 | Homo sapiens | a glycoprotein localized at the equatorial segment of the acrosome | UDP + [equatorin]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr138 | - |
? |  |
| UDP-N-acetyl-alpha-D-galactosamine + [FGF23]-L-Thr178 | Mus musculus | a furin-like proprotein convertase processing site of phosphaturic factor | UDP + [FGF23]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr178 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [FGF23]-L-Thr178 | Homo sapiens | a furin-like proprotein convertase processing site of phosphaturic factor | UDP + [FGF23]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr178 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [fibronectin]-L-threonine | Homo sapiens | - |
UDP + [fibronectin]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-serine | Mus musculus | - |
UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-serine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-serine | Homo sapiens | - |
UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-serine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-serine | Rattus norvegicus | - |
UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-serine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-threonine | Mus musculus | - |
UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-threonine | Homo sapiens | - |
UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-threonine | Rattus norvegicus | - |
UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
| Homo sapiens | Q9HCQ5 | - |
- |
| Homo sapiens | Q10471 | - |
- |
| Homo sapiens | Q14435 | - |
- |
| Homo sapiens | Q8N4A0 | - |
- |
| Homo sapiens | Q8NCL4 | - |
- |
| Homo sapiens | Q8NCW6 | - |
- |
| Homo sapiens | Q8IXK2 | - |
- |
| Homo sapiens | Q8IUC8 | - |
- |
| Homo sapiens | Q96FL9 | - |
- |
| Homo sapiens | Q86SF2 | - |
- |
| Homo sapiens | Q6P9A2 | - |
- |
| Homo sapiens | Q9NY28 | - |
- |
| Homo sapiens | Q86SR1 | - |
- |
| Homo sapiens | Q8N3T1 | - |
- |
| Homo sapiens | Q8N428 | - |
- |
| Homo sapiens | Q6IS24 | - |
- |
| Homo sapiens | Q2L4S5 | - |
- |
| Mus musculus | P70419 | - |
- |
| Mus musculus | O08912 | - |
- |
| Mus musculus | Q8CF93 | - |
- |
| Mus musculus | O08832 | - |
- |
| Mus musculus | Q6PB93 | - |
- |
| Mus musculus | Q80VA0 | - |
- |
| Mus musculus | Q6P9S7 | - |
- |
| Mus musculus | Q921L8 | - |
- |
| Mus musculus | Q9JJ61 | - |
- |
| Mus musculus | Q8K1B9 | - |
- |
| Rattus norvegicus | - |
- |
- |
| Rattus norvegicus | O88422 | - |
- |
| Rattus norvegicus | Q9R0C5 | - |
- |
| Rattus norvegicus | Q925R7 | - |
- |
Purification (Commentary)
| Purification (Comment) | Organism |
|---|---|
| native enzyme from placenta | Homo sapiens |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| adrenal gland | - |
Homo sapiens | - |
| bone marrow | - |
Homo sapiens | - |
| brain | - |
Homo sapiens | - |
| brain | - |
Rattus norvegicus | - |
| brain | - |
Mus musculus | - |
| brain | human GALNT13 is specifically expressed in the brain | Homo sapiens | - |
| caudate putamen | - |
Homo sapiens | - |
| cerebellum | - |
Homo sapiens | - |
| cerebral cortex | - |
Homo sapiens | - |
| colon | - |
Mus musculus | - |
| colon | - |
Rattus norvegicus | - |
| colon | - |
Homo sapiens | - |
| fibroblast | - |
Homo sapiens | - |
| frontal lobe | - |
Homo sapiens | - |
| heart | - |
Homo sapiens | - |
| heart | - |
Rattus norvegicus | - |
| heart | - |
Mus musculus | - |
| hypothalamus | - |
Mus musculus | - |
| intestine | - |
Homo sapiens | - |
| kidney | - |
Mus musculus | - |
| kidney | - |
Homo sapiens | - |
| kidney | murine Galnt11 is highly expressed only in the kidney | Mus musculus | - |
| kidney | human GALNT14 is specifically expressed in the kidney | Homo sapiens | - |
| leukocyte | - |
Homo sapiens | - |
| liver | - |
Homo sapiens | - |
| liver | - |
Mus musculus | - |
| lung | - |
Mus musculus | - |
| lung | - |
Homo sapiens | - |
| lung | - |
Rattus norvegicus | - |
| lung | mouse Galnt18 is expressed only in the lung | Mus musculus | - |
| lymph node | - |
Homo sapiens | - |
| additional information | GALNT1 and its protein are ubiquitously expressed in tissues and cell types at high levels | Mus musculus | - |
| additional information | GALNT2 and its protein are ubiquitously expressed in tissues and cell types at high levels | Mus musculus | - |
| additional information | murine Galnt3 is highly expressed in the testis and moderately in other organs, including the sublingual gland, uterus, cervix, stomach, colon, kidney, submandibular gland and parotid gland | Mus musculus | - |
| additional information | human GALNT3 is mainly found in the pancreas and testis, with lower expression in the kidney, prostate and intestine. GalNAc-T3 is the only GalNAc-T isoform expressed in ejaculated spermatozoa. GalNAc-T3 is not expressed in fibroblasts, brain, and spermatozoa | Homo sapiens | - |
| additional information | murine Galnt4 is highly expressed in the sublingual gland, stomach and colon, and moderately expressed in the lung, small intestine, cervix and uterus | Mus musculus | - |
| additional information | human GALNT4 is highly expressed in the liver, small intestine, stomach, pancreas, thyroid, spleen, lymph node, and bone marrow | Homo sapiens | - |
| additional information | rat Galnt5 is highly expressed in the sublingual gland and colon, and moderately in the stomach and small intestine | Rattus norvegicus | - |
| additional information | human GALNT6 is expressed in the placenta and trachea, with weak signals in the brain and pancreas. GalNAc-T6 is not expressed in human spermatozoa | Homo sapiens | - |
| additional information | rat Galnt7 are expressed in the sublingual gland, stomach, small intestine and colon, with trace amounts in the ovary, cervix, and uterus | Rattus norvegicus | - |
| additional information | murine Galnt7 are expressed in the sublingual gland, stomach, small intestine and colon, with trace amounts in the ovary, cervix, and uterus | Mus musculus | - |
| additional information | human GALNT7 is expressed ubiquitously, including in the stomach, thyroid, spinal cord, lymph node, trachea and adrenal gland, but not in bone marrow | Homo sapiens | - |
| additional information | tissue distribution of human GALNT8 is high in the heart, skeletal muscle, kidney and liver, moderate in the placenta, small intestine, leukocyte and lung, and weak in the brain, colon, thymus, and spleen. Weak expression of GALNT8 are found in the fetal brain, testis, colon, and small intestine | Homo sapiens | - |
| additional information | human GALNT9 shows brain-specific expression, especially in the cerebellum, frontal lobe, temporal lobe and putamen, weak expression in the cerebral cortex, and no expression in the medulla, occipital pole, and spinal cord | Homo sapiens | - |
| additional information | human GALNT10 is ubiquitously expressed, with the highest levels in the small intestine, and intermediate levels in the stomach, pancreas, ovary, thyroid gland, and spleen | Homo sapiens | - |
| additional information | the highest levels of rat Galnt10 occur in the sublingual gland, testis, small intestine, colon and ovary, with lower levels in the heart, brain, spleen, lung, stomach, cervix, and uterus | Rattus norvegicus | - |
| additional information | murine Galnt10 is predominantly expressed in several hypothalamic, thalamic and amygdalar nuclei in the brain | Mus musculus | - |
| additional information | human GALNT11 is highly expressed in the kidney and moderately expressed in the brain, heart, and skeletal muscle | Homo sapiens | - |
| additional information | human GALNT12 is expressed in digestive organs, including the stomach, small intestine, pancreas, and colon. Moderate expression of GALNT12 occurs in the testis, thyroid gland, and spleen | Homo sapiens | - |
| additional information | human GALNT15 is ubiquitously expressed in human tissues, with high expression in the placenta and small intestine, and moderate expression in the spleen, ovary, and cerebral cortex | Homo sapiens | - |
| additional information | human GALNT16 has a broad distribution, with high expression in the heart and moderate expression in the brain and spinal cord | Homo sapiens | - |
| additional information | in mice, Galnt16 expression is very low in the tissues tested, including brain, colon, heart, kidney, liver, lung, skeletal muscle, ovary, prostate, spleen, sublingual gland, testis, thymus, and thyroid | Mus musculus | - |
| additional information | human GALNT17 shows high expression in the testis, brain, and ovary | Homo sapiens | - |
| additional information | human GALNT18 is expressed ubiquitously, including in the lung, brain, uterus, placenta, testis, and kidney | Homo sapiens | - |
| additional information | human GALNT19 is highly expressed in the brain, and moderately expressed in the heart | Homo sapiens | - |
| additional information | rat GALNT19 is highly expressed in the brain | Rattus norvegicus | - |
| ovary | - |
Rattus norvegicus | - |
| ovary | - |
Mus musculus | - |
| ovary | - |
Homo sapiens | - |
| pancreas | - |
Homo sapiens | - |
| parotid gland | - |
Mus musculus | - |
| placenta | - |
Homo sapiens | - |
| prostate gland | - |
Homo sapiens | - |
| prostate gland | - |
Mus musculus | - |
| skeletal muscle | - |
Homo sapiens | - |
| skeletal muscle | - |
Mus musculus | - |
| small intestine | - |
Mus musculus | - |
| small intestine | - |
Homo sapiens | - |
| small intestine | - |
Rattus norvegicus | - |
| spermatid | - |
Homo sapiens | - |
| spermatocyte | - |
Homo sapiens | - |
| spermatozoon | strong expression of GalNAc-T3, but not GalNAc-T1, in human spermatozoa | Homo sapiens | - |
| spinal cord | - |
Homo sapiens | - |
| spleen | - |
Homo sapiens | - |
| spleen | - |
Rattus norvegicus | - |
| spleen | - |
Mus musculus | - |
| stomach | - |
Mus musculus | - |
| stomach | - |
Homo sapiens | - |
| stomach | - |
Rattus norvegicus | - |
| sublingual gland | - |
Mus musculus | - |
| sublingual gland | - |
Rattus norvegicus | - |
| submandibular gland | - |
Mus musculus | - |
| temporal lobe | - |
Homo sapiens | - |
| testis | high expression level | Mus musculus | - |
| testis | - |
Homo sapiens | - |
| testis | - |
Rattus norvegicus | - |
| testis | - |
Mus musculus | - |
| testis | human GALNT20 shows highly specific expression in the testis | Homo sapiens | - |
| thymus | - |
Homo sapiens | - |
| thymus | - |
Mus musculus | - |
| thyroid gland | - |
Homo sapiens | - |
| thyroid gland | - |
Mus musculus | - |
| trachea | - |
Homo sapiens | - |
| uterine cervix | - |
Mus musculus | - |
| uterine cervix | - |
Rattus norvegicus | - |
| uterine endometrium | - |
Homo sapiens | - |
| uterus | - |
Mus musculus | - |
| uterus | - |
Rattus norvegicus | - |
| uterus | - |
Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| additional information | GALNT7 has a preference for GalNAc-glycosylated substrates and functions as a follow-up enzyme | Homo sapiens | ? | - |
- |
|
| additional information | human GalNAc-T10 displays strong activity for glycosylated peptides, but negligible catalytic activity toward non-glycosylated peptides | Homo sapiens | ? | - |
- |
|
| additional information | rat GalNAc-T10 serves as a follow-up enzyme (similar to resembles GalNAc-T7) and does not utilize non-glycosylated peptides as substrates | Rattus norvegicus | ? | - |
- |
|
| additional information | human GalNAc-T10 displays strong activity for glycosylated peptides, but negligible catalytic activity toward non-glycosylated peptides | Mus musculus | ? | - |
- |
|
| additional information | Galnt11-deficient mice suffer from low-molecular-weight proteinuria | Mus musculus | ? | - |
- |
|
| additional information | the enzyme uses peptide substrates | Homo sapiens | ? | - |
- |
|
| additional information | the enzyme transfers GalNAc to a wide range of peptide substrates | Homo sapiens | ? | - |
- |
|
| additional information | the enzyme transfers GalNAc to a wide range of peptide substrates | Mus musculus | ? | - |
- |
|
| additional information | human GalNAc-T18 has highly specific substrate specificity and only two peptides (GTTAKPTTLKPTE and GAGAEAPTPAPAGAGK) have been identified that can be glycosylated by the enzyme | Homo sapiens | ? | - |
- |
|
| additional information | enzyme activity of GalNAc-T20 against peptides cannot be detected in vitro | Homo sapiens | ? | - |
- |
|
| UDP-N-acetyl-alpha-D-galactosamine + [angiopoietin-like protein 3]-L-Thr226 | - |
Homo sapiens | UDP + [angiopoietin-like protein 3]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr226 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [apolipoprotein C-III]-L-Thr74 | - |
Homo sapiens | UDP + [apolipoprotein C-III]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr74 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [endocytic receptor megalin/LRP2]-L-threonine | - |
Mus musculus | UDP + [endocytic receptor megalin/LRP2]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [equatorin]-L-Thr138 | a glycoprotein localized at the equatorial segment of the acrosome | Homo sapiens | UDP + [equatorin]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr138 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [equatorin]-L-Thr138 | - |
Homo sapiens | UDP + [equatorin]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr138 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [FGF23]-L-Thr178 | a furin-like proprotein convertase processing site of phosphaturic factor | Mus musculus | UDP + [FGF23]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr178 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [FGF23]-L-Thr178 | a furin-like proprotein convertase processing site of phosphaturic factor | Homo sapiens | UDP + [FGF23]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr178 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [FGF23]-L-Thr178 | - |
Homo sapiens | UDP + [FGF23]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-Thr178 | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [fibronectin]-L-threonine | - |
Homo sapiens | UDP + [fibronectin]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [fibronectin]-L-threonine | fibronectin is not glycosylated by GalNAc-T3 in vivo, but specifically by GalNAc-T6 | Homo sapiens | UDP + [fibronectin]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [GAGAEAPTPAPAGAGK]-L-threonine | - |
Homo sapiens | UDP + [GAGAEAPTPAPAGAGK]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [GTTAKPTTLKPTE]-L-threonine | - |
Homo sapiens | UDP + [GTTAKPTTLKPTE]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [Notch1]-L-threonine | - |
Homo sapiens | UDP + [Notch1]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-serine | - |
Mus musculus | UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-serine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-serine | - |
Homo sapiens | UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-serine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-serine | - |
Rattus norvegicus | UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-serine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-threonine | - |
Mus musculus | UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-threonine | - |
Homo sapiens | UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
| UDP-N-acetyl-alpha-D-galactosamine + [protein]-L-threonine | - |
Rattus norvegicus | UDP + [protein]-3-O-(N-acetyl-alpha-D-galactosaminyl)-L-threonine | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| GalNAc-T1 | - |
Mus musculus |
| GalNAc-T10 | - |
Homo sapiens |
| GalNAc-T10 | - |
Rattus norvegicus |
| GalNAc-T10 | - |
Mus musculus |
| GalNAc-T11 | - |
Homo sapiens |
| GalNAc-T11 | - |
Mus musculus |
| GalNAc-T12 | - |
Homo sapiens |
| GalNAc-T13 | - |
Homo sapiens |
| GalNAc-T13 | - |
Mus musculus |
| GalNAc-T14 | - |
Homo sapiens |
| GalNAc-T15 | - |
Homo sapiens |
| GalNAc-T16 | - |
Homo sapiens |
| GalNAc-T16 | - |
Mus musculus |
| GalNAc-T17 | - |
Homo sapiens |
| GalNAc-T18 | - |
Homo sapiens |
| GalNAc-T18 | - |
Mus musculus |
| GalNAc-T19 | - |
Homo sapiens |
| GalNAc-T19 | - |
Rattus norvegicus |
| GalNAc-T2 | - |
Homo sapiens |
| GalNAc-T2 | - |
Mus musculus |
| GalNAc-T20 | - |
Homo sapiens |
| GalNAc-T3 | - |
Mus musculus |
| GalNAc-T3 | - |
Homo sapiens |
| GalNAc-T4 | - |
Mus musculus |
| GalNAc-T4 | - |
Homo sapiens |
| GalNAc-T5 | - |
Rattus norvegicus |
| GalNAc-T6 | - |
Homo sapiens |
| GalNAc-T7 | - |
Rattus norvegicus |
| GalNAc-T7 | - |
Mus musculus |
| GalNAc-T7 | - |
Homo sapiens |
| GalNAc-T8 | - |
Homo sapiens |
| GalNAc-T9 | - |
Homo sapiens |
| GALNT1 | - |
Mus musculus |
| GALNT10 | - |
Homo sapiens |
| GALNT10 | - |
Rattus norvegicus |
| GALNT10 | - |
Mus musculus |
| GALNT11 | - |
Homo sapiens |
| GALNT11 | - |
Mus musculus |
| GALNT12 | - |
Homo sapiens |
| Galnt13 | - |
Homo sapiens |
| Galnt13 | - |
Mus musculus |
| GALNT14 | - |
Homo sapiens |
| GALNT15 | - |
Homo sapiens |
| GALNT16 | - |
Homo sapiens |
| GALNT16 | - |
Mus musculus |
| GALNT17 | - |
Homo sapiens |
| Galnt18 | - |
Homo sapiens |
| Galnt18 | - |
Mus musculus |
| GALNT19 | - |
Homo sapiens |
| GALNT19 | - |
Rattus norvegicus |
| GALNT2 | - |
Homo sapiens |
| GALNT2 | - |
Mus musculus |
| GALNT20 | - |
Homo sapiens |
| GALNT3 | - |
Mus musculus |
| GALNT3 | - |
Homo sapiens |
| Galnt4 | - |
Mus musculus |
| Galnt4 | - |
Homo sapiens |
| GalNT5 | - |
Rattus norvegicus |
| GALNT6 | - |
Homo sapiens |
| GALNT7 | - |
Rattus norvegicus |
| GALNT7 | - |
Mus musculus |
| GALNT7 | - |
Homo sapiens |
| GALNT8 | - |
Homo sapiens |
| GALNT9 | - |
Homo sapiens |
| polypepide N-acetylgalactosaminyltransferase | - |
Mus musculus |
| polypepide N-acetylgalactosaminyltransferase | - |
Homo sapiens |
| polypepide N-acetylgalactosaminyltransferase | - |
Rattus norvegicus |
Expression
| Organism | Comment | Expression |
|---|---|---|
| Mus musculus | expression of GALNT3 is highly regulated | additional information |
| Homo sapiens | expression of GALNT3 is highly regulated | additional information |
| Mus musculus | murine GALNT16 upregulation is obeserved through an unknown mechanism in diabetic mice | up |
General Information
| General Information | Comment | Organism |
|---|---|---|
| evolution | 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferases (GalNAc-Ts) are encoded in a large gene family (GALNTs) | Mus musculus |
| evolution | 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferases (GalNAc-Ts) are encoded in a large gene family (GALNTs) | Homo sapiens |
| evolution | 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferases (GalNAc-Ts) are encoded in a large gene family (GALNTs). GalNAc-T3 activity is important for male infertility, consistent with the high GALNT3 expression in testis | Mus musculus |
| evolution | 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferases (GalNAc-Ts) are encoded in a large gene family (GALNTs) | Rattus norvegicus |
| evolution | 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferases (GalNAc-Ts) are encoded in a large gene family (GALNTs). Human GALNT10 is cloned as a homologue of human GALNT7 | Homo sapiens |
| evolution | 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferases (GalNAc-Ts) are encoded in a large gene family (GALNTs). Murine Galnt13 has been firstly cloned and published as a homologue of Galnt1 | Mus musculus |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Disruption of murine Galnt1 is not fatal and does not cause infertility, although Galnt1 deficiency does have moderate lethality and one-fourth of homozygous null mice, but not heterozygous mice, die in utero beyond E12.5 or before the age of one month for unknown reasons. The moderate lethality observed in Galnt1 null mice might indicate that other GalNAc-Ts could partially compensate for GalNAc-T1. Galnt1-inactivated mice show altered innate and adaptive immune cell trafficking correlating with decreased expression of E- and P-selectin ligands on neutrophils and decreased expression of L-selectin ligands on lymph node high endothelial venules (HEVs). Increased apoptosis of B cells in the germinal center, resulting in impaired IgG production, also occurs in GalNAc-T1-deficient mice. Loss of Galnt1 affects the early stages of murine organogenesis by disrupting secretion of components, especially laminin and collagen IV, of the basement membrane, which is a specialized extracellular matrix (ECM) that is important for mammalian development. Reduced cell proliferation and embryonic submandibular gland (SMG) growth, resulting in decreased integrin and FGF signaling, occur in Galnt1-deficient mice. Phenotypes, overview | Mus musculus |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Phenotypes, overview. Associations of single nucleotide polymorphisms (SNPs) of GALNT2 with levels of plasma high-density lipoprotein cholesterol (HDL-C) and triglycerides (TG) in humans. Protein expression in plasma is not affected by GALNT2 deficiency | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Phenotypes, overview. Multiple phenotypes occur in Galnt2-deficient rodent models | Mus musculus |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Galnt3-deficient mice do not develop ectopic calcification, which is a phenotype in human HFTC, but GalNAc-T3W589R mice have this phenotype | Mus musculus |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. GALNT3 mutation can cause hyperphosphatemic familial tumoral calcinosis (HFTC) cases in humans, hyperostosis hyperphosphatemia syndrome (HHS) is another clinical feature of GALNT3 deficiency. The mechanism underlying HFTC caused by GALNT3 mutation is a lack of O-glycosylation on Thr178 in a furin-like proprotein convertase processing site of phosphaturic factor, FGF23, cleavage leads to inactivation of the factor. HFTC and HHS phenotypes, detailed overview. Overview of detected mutations in human GALNT3. The fraction of spermatozoa with equatorial expression of GalNAc-T3 is significantly lower in men with oligoteratoasthenozoospermia. GalNAc-T3 expression seems to be related to the quality of spermatozoa, and GalNAc-T3 deficiency may lead to impaired O-glycosylation of proteins and abnormal maturation and function of spermatozoa. Downregulation of both GalNAc-T3 and GalNAc-T6 in the ectopic endometrium contributes to the development of endometriosis | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes | Mus musculus |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. GalNAc-T4V506I carriers are shown to be associated with reduced risk of acute coronary syndrome (ACS), although the association is not significant in the haplotypic test | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes | Rattus norvegicus |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Expression of several GALNTs, including GALNT6, is altered in sporadic Alzheimer's disease progression in human brain. beta-Amyloid (A1-40 and A1-42) generation is reduced by overexpression of GalNAc-T6 without affecting the activities of secretases in vivo. Downregulation of both GalNAc-T3 and GalNAc-T6 in the ectopic endometrium contributes to the development of endometriosis | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Human GALNT7 is positively associated with schizophrenia, although the association is not statistically significant in quantitative PCR analyses. And neuritic plaques, a core neuropathologic feature of Alzheimer's disease formed by beta-amyloid deposits, are positively associated with GALNT7 | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Expression of GALNT10 in the brain in mice might be related to human schizophrenia | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Association between human GALNT11 and deterioration of kidney function. GALNT11 expression is related to heterotaxy, a congenital heart disease resulting from abnormalities in left-right body patterning. GALNT11 is associated with developmental delay, distinctive facial features and multiple congenital anomalies | Homo sapiens |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. Megalin shows reduced binding to endogenous ligands in the absence of Galnt11. GALNT11 expression is related to heterotaxy, a congenital heart disease resulting from abnormalities in left-right body patterning. GALNT11 deficiency affects the Notch signaling pathway | Mus musculus |
| malfunction | two of the GALNT genes, GALNT2 and GALNT3, are monogenic autosomal recessive inherited disease genes with well characterized phenotypes, whereas a broad spectrum of phenotypes is associated with the remaining 18 genes. GALNT12 is negatively associated with serum galactose-deficient IgA1 levels resulting in IgA nephropathy, and a single nucleotide polymorphism (SNP rs2295926, belonging to GALNT12) is strongly associated with rapid radiographic joint destruction in patients with rheumatoid arthritis | Homo sapiens |
| malfunction | relationship of GALNT13 overexpression with minor facial and digital anomalies, mild developmental delay during infancy and behavioral disorders, which might reflect high expression of GALNT13 in the brain | Homo sapiens |
| malfunction | human enzyme mutation in Galnt17 cause dysregulation and are related to a phenotype of human Autism Susceptibility Candidate 2 (AUTS2) syndrome | Homo sapiens |
| malfunction | positive association between demethylation of a CpG site located within GALNT18 and development of active lupus nephritis. A significant reduction in DNA methylation levels in a single CpG site (cg16204559) is observed during active nephritis in lupus patients | Homo sapiens |
| malfunction | a heterozygous mutation of Galnt20 affects male fertility with impairment of sperm motility | Homo sapiens |
| metabolism | human GALNT6 is a close ue of GALNT3. Fibronectin is a good substrate for O-glycosylation by human GalNAc-T3 and GalNAc-T6, but not by GalNAc-T1 and GalNAc-T2, in vitro, but fibronectin is specifically glycosylated by GalNAc-T6 in vivo | Homo sapiens |
| metabolism | human GALNT6 is similar to GALNT3. Fibronectin is a good substrate for O-glycosylation by human GalNAc-T3 and GalNAc-T6, but not by GalNAc-T1 and GalNAc-T2, in vitro, but fibronectin is specifically glycosylated by GalNAc-T6 in vivo. Together with GalNAc-T6, GalNAc-T7 may control beta-amyloid generation in Alzheimer's disease | Homo sapiens |
| metabolism | together with GalNAc-T6, GalNAc-T7 may control beta-amyloid generation in Alzheimer's disease | Homo sapiens |
| additional information | the lectin domain of GalNAc-T3 is required for O-glycosylation on Thr178 of a furin-like proprotein convertase processing site of phosphaturic factor, FGF23 | Homo sapiens |
| additional information | GALNT8 is highly polymorphic, but no substitutions are ADHR-related | Homo sapiens |
| additional information | the catalytic domain of GalNAc-T10 is involved in site selection on glycopeptides, but the lectin domain is not required for catalysis | Homo sapiens |
| additional information | human GALNT20 is unique among GALNTs because it does not encode a lectin domain | Homo sapiens |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy | Mus musculus |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy. GalNAc-T2 selectively glycosylates Thr226 of angiopoietin-like protein 3 (ANGPTL3) adjacent to the furin-like proprotein convertase processing site, and O-glycosylation of this site blocks protein cleavage in vitro. Cleavage of ANGPTL3 at this site leads to activation of the protein as an inhibitor of LPL and endothelial lipase (EL). GalNAc-T2 glycosylates Thr74 of ApoC-III, and if O-glycosylation stabilizes the protein, elevated Apo-CIII will lower LPL and increase plasma TG, although species-specific regulation of plasma TG levels. Absence of O-glycosylation at Thr74 does not affect Apo-CIII secretion or binding affinity for lipoprotein in vitro, and results in normal TG, HDL and ApoC-III levels in humans | Homo sapiens |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy. GalNAc-T3 activity is important for male infertility, consistent with the high GALNT3 expression in testis. O-Glycosylation on equatorin is important for sperm-egg interaction in vitro and in vivo | Homo sapiens |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy | Homo sapiens |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy | Rattus norvegicus |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy. More prominent amyloid precursor protein (APP) O-glycosylation occurred through GalNAc-T6 compared to GalNAc-T1 or GalNAc-T4. O-glycosylation of APP by GalNAc-T6 inhibits APP cleavage, and thereby decreases A production | Homo sapiens |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy. Broad expression of Galnt10 in mouse brain might indicate that the enzyme has a role in the central nervous system (CNS) | Mus musculus |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy. The endocytic receptor megalin/LRP2, a member of the low-density lipoprotein receptor (LDLR) family, is a specific substrate for GalNAc-T11 in the kidney. GALNT11 affects the Notch signaling pathway | Mus musculus |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy | Homo sapiens |
| physiological function | mucin-type O-glycosylation involves the attachment of glycans to an initial O-linked N-acetylgalactosamine (GalNAc) on serine and threonine residues on proteins. This process in mammals is initiated and regulated by a large family of 20 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (GalNAc-Ts). These enzymes do not have full functional redundancy. Human GALNT19 is identical to the gene WBSCR17, located in the critical region of patients with Williams-Beuren Syndrome, a neurodevelopmental disorder. Therefore, GalNAc-T19 may glycosylate brain-specific substrates in vivo | Homo sapiens |
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