MGP Database

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MGP005900

UniProt Annotations

Entry Information
Gene Namepolypeptide N-acetylgalactosaminyltransferase 12
Protein EntryGLT12_HUMAN
UniProt IDQ8IXK2
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IXK2-1; Sequence=Displayed; Name=2; IsoId=Q8IXK2-2; Sequence=VSP_011217; Note=No experimental confirmation available.;
Catalytic ActivityUDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide. {ECO:0000269|PubMed:12135769}.
CofactorName=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250};
DiseaseColorectal cancer 1 (CRCS1) [MIM:608812]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:19617566, ECO:0000269|PubMed:22461326, ECO:0000269|PubMed:24115450}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion: studies on 103 probants with colorectal cancer 1 (CRCS1) suggest that it does not act as a major contributor of CRCS1 (PubMed:24115450). {ECO:0000269|PubMed:24115450}.
DomainThere are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. {ECO:0000250}.
DomainThe ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity. {ECO:0000250}.
FunctionCatalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc- Muc5AC glycopeptide, but no detectable activity to mono-GalNAc- glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs.
PathwayProtein modification; protein glycosylation.
Sequence CautionSequence=BAB15027.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the glycosyltransferase 2 family. GalNAc-T subfamily. {ECO:0000305}.
SimilarityContains 1 ricin B-type lectin domain. {ECO:0000255|PROSITE-ProRule:PRU00174}.
Subcellular LocationGolgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
Tissue SpecificityWidely expressed at different levels of expression. Highly expressed in digestive organs such as small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen. Weakly expressed in whole brain, cerebral cortex, cerebellum, fetal brain, bone marrow, thymus, leukocytes, heart, skeletal muscle, liver, lung, esophagus, kidney, adrenal gland, mammary gland, uterus, placenta, ovary and prostate. {ECO:0000269|PubMed:12135769}.
Web ResourceName=Functional Glycomics Gateway - GTase; Note=Polypeptide N-acetylgalactosaminyltransferase 12; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_495";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GALNT12";
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