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Literature summary for 2.4.1.41 extracted from

  • Guda, K.; Moinova, H.; He, J.; Jamison, O.; Ravi, L.; Natale, L.; Lutterbaugh, J.; Lawrence, E.; Lewis, S.; Willson, J.K.; Lowe, J.B.; Wiesner, G.L.; Parmigiani, G.; Barnholtz-Sloan, J.; Dawson, D.W.; Velculescu, V.E.; Kinzler, K.W.; Papadopoulos, N.; Vogelstein, B.; Willis, J.; Gerken, T.A.; Markowitz,
    Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers (2009), Proc. Natl. Acad. Sci. USA, 106, 12921-12925.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

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

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

Metals/Ions Comment Organism Structure
Mn2+
-
Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q8IXK2
-
-

Source Tissue

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 and Products (Substrate)

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

Synonyms Comment Organism
GALNT12
-
Homo sapiens
polypeptide N-acetylgalactosaminyltransferase 12
-
Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.4
-
assay at Homo sapiens

General Information

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