Cloned (Comment) | Organism |
---|---|
GALNT12, DNA and amino acid sequence determination and analysis, genotyping, recombinant expression of tagged wild-type and mutant enzymes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C479F | naturally occuring mutation | Homo sapiens |
D261N | naturally occuring mutation, the mutant activity is slightly reduced compared to the wild-type enzyme | Homo sapiens |
D303N | naturally occuring mutation, the mutant activity is reduced by 60% compared to the wild-type enzyme | Homo sapiens |
E119V | naturally occuring mutation, the mutant activity is slightly increased compared to the wild-type enzyme | Homo sapiens |
E341D | naturally occuring mutation | Homo sapiens |
G272R | naturally occuring mutation, the mutant activity is slightly reduced compared to the wild-type enzyme | Homo sapiens |
G3E | naturally occuring mutation, the mutant activity is slightly reduced compared to the wild-type enzyme | Homo sapiens |
G46R | naturally occuring mutation, the mutant activity is unaltered compared to the wild-type enzyme | Homo sapiens |
additional information | identification of somatic and germ-line mutations in GALNT12 in individuals with colon cancer, each of the 8 GALNT12 mutations identified inactivates the normal function of the GALNT enzyme in initiating mucin type O-linked protein glycosylation, overview | Homo sapiens |
R297W | naturally occuring mutation, the mutant activity is reduced by about 95% compared to the wild-type enzyme | Homo sapiens |
R373H | naturally occuring mutation, the mutant activity is reduced by about 97% compared to the wild-type enzyme | Homo sapiens |
R382H | naturally occuring mutation, the mutant activity is almost completely inactive | Homo sapiens |
R552K | naturally occuring mutation, the mutant activity is unaltered compared to the wild-type enzyme | Homo sapiens |
T491M | naturally occuring mutation, the mutant activity is reduced by about 98% compared to the wild-type enzyme | Homo sapiens |
Y395X | naturally occuring mutation, the mutant activity is inactive | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mn2+ | - |
Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q8IXK2 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
colonic carcinoma cell | - |
Homo sapiens | - |
V400 cell | a colon cancer cell line | Homo sapiens | - |
V866 cell | a colon cancer cell line | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
UDP-N-acetyl-D-galactosamine + GTTPSPVPTTSTTSA | i.e. Muc5Ac peptide, multiple possible binding sites for N-acetyl-D-galactosamine on the peptide | Homo sapiens | UDP + N-acetyl-D-galactosaminyl-[GTTPSPVPTTSTTSA] | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GALNT12 | - |
Homo sapiens |
polypeptide N-acetylgalactosaminyltransferase 12 | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.4 | - |
assay at | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutation of the enzyme might be involved in development of cancer | Homo sapiens |
physiological function | the GALNT enzyme plays a role in initiating mucin type O-linked protein glycosylation | Homo sapiens |