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機能
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.
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組織特異性
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.
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パスウェイ
Protein modification; protein glycosylation.
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関連疾患
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.
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配列類似性
Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Contains 1 ricin B-type lectin domain.
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ドメイン
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.
The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
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細胞内局在
Golgi apparatus membrane.
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Information by UniProt
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参照データベース
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別名
- Colorectal cancer susceptibility to 1 antibody
- CRCS1 antibody
- FLJ21212 antibody
- GalNAc T12 antibody
- GalNAc-T12 antibody
- GalNAcT12 antibody
- GALNT 12 antibody
- Galnt12 antibody
- GLT12_HUMAN antibody
- Polypeptide GalNAc transferase 12 antibody
- Polypeptide N acetylgalactosaminyltransferase 12 antibody
- Polypeptide N-acetylgalactosaminyltransferase 12 antibody
- pp GaNTase 12 antibody
- pp-GaNTase 12 antibody
- Protein UDP acetylgalactosaminyltransferase 12 antibody
- Protein-UDP acetylgalactosaminyltransferase 12 antibody
- UDP GalNAc polypeptide N acetylgalactosaminyltransferase 12 antibody
- UDP GalNAc polypeptide N acetylgalactosaminyltransferase antibody
- UDP N acetyl alpha D galactosamine polypeptide N acetylgalactosaminyltransferase 12 antibody
- UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12 antibody
see all