Human Gene GALNT12 (ENST00000375011.4) from GENCODE V44
Description: Homo sapiens polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12), mRNA. (from RefSeq NM_024642) RefSeq Summary (NM_024642): This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]. Gencode Transcript: ENST00000375011.4 Gencode Gene: ENSG00000119514.7 Transcript (Including UTRs) Position: hg38 chr9:98,807,670-98,850,081 Size: 42,412 Total Exon Count: 10 Strand: + Coding Region Position: hg38 chr9:98,807,699-98,849,092 Size: 41,394 Coding Exon Count: 10
ID:GLT12_HUMAN DESCRIPTION: RecName: Full=Polypeptide N-acetylgalactosaminyltransferase 12; EC=2.4.1.41; AltName: Full=Polypeptide GalNAc transferase 12; Short=GalNAc-T12; Short=pp-GaNTase 12; AltName: Full=Protein-UDP acetylgalactosaminyltransferase 12; AltName: Full=UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12; FUNCTION: Catalyzes 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. CATALYTIC ACTIVITY: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. COFACTOR: Manganese (By similarity). COFACTOR: Calcium (By similarity). PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). TISSUE SPECIFICITY: Widely 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. DOMAIN: There 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 (By similarity). DOMAIN: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity). DISEASE: Defects in GALNT12 are a cause of susceptibility to colorectal cancer type 1 (CRCS1) [MIM:608812]. Colorectal cancer is a malignancy originating either in the colon or rectum or both. SIMILARITY: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. SIMILARITY: Contains 1 ricin B-type lectin domain. SEQUENCE CAUTION: Sequence=BAB15027.1; Type=Erroneous initiation; WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Polypeptide N-acetylgalactosaminyltransferase 12; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_495";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IXK2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q8IXK2 (Reactome details) participates in the following event(s):
R-HSA-913675 GALNTs transfer GalNAc from UDP-GalNAc to mucins to form Tn antigens R-HSA-913709 O-linked glycosylation of mucins R-HSA-5173105 O-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
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