GALNT12
Polypeptide N-acetylgalactosaminyltransferase 12
Also known as: GalNAc-T12, GLT12_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IXK2
- Gene
- GALNT12
- Ensembl
- ENSG00000119514
- Chromosome
- 9
- Canonical length
- 581 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Cell Junctions
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
581 residues, UniProt reviewed canonical sequence.
>Q8IXK2|GALNT12
1 MWGRTARRRC PRELRRGREA LLVLLALLAL AGLGSVLRAQ RGAGAGAAEP GPPRTPRPGR
61 REPVMPRPPV PANALGARGE AVRLQLQGEE LRLQEESVRL HQINIYLSDR ISLHRRLPER
121 WNPLCKEKKY DYDNLPRTSV IIAFYNEAWS TLLRTVYSVL ETSPDILLEE VILVDDYSDR
181 EHLKERLANE LSGLPKVRLI RANKREGLVR ARLLGASAAR GDVLTFLDCH CECHEGWLEP
241 LLQRIHEEES AVVCPVIDVI DWNTFEYLGN SGEPQIGGFD WRLVFTWHTV PERERIRMQS
301 PVDVIRSPTM AGGLFAVSKK YFEYLGSYDT GMEVWGGENL EFSFRIWQCG GVLETHPCSH
361 VGHVFPKQAP YSRNKALANS VRAAEVWMDE FKELYYHRNP RARLEPFGDV TERKQLRDKL
421 QCKDFKWFLE TVYPELHVPE DRPGFFGMLQ NKGLTDYCFD YNPPDENQIV GHQVILYLCH
481 GMGQNQFFEY TSQKEIRYNT HQPEGCIAVE AGMDTLIMHL CEETAPENQK FILQEDGSLF
541 HEQSKKCVQA ARKESSDSFV PLLRDCTNSD HQKWFFKERM LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GALNT12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 71 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 71 nTPM
- rectum: 52 nTPM
- colon: 52 nTPM
- stomach: 52 nTPM
- duodenum: 32 nTPM
- small intestine: 26 nTPM
Single-cell type
- goblet cells: 210 nCPM
- mucous neck cells: 131 nCPM
- foveolar cells: 122 nCPM
- gastric chief cells: 104 nCPM
- colonocytes: 100 nCPM
- epididymal principal cells: 71 nCPM
Immune cell
- MAIT T-cell: 0.6 nTPM
- naive CD4 T-cell: 0.6 nTPM
- NK-cell: 0.6 nTPM
- eosinophil: 0.5 nTPM
- memory CD4 T-cell: 0.4 nTPM
- gdT-cell: 0.3 nTPM
Brain region
- cerebellum: 13 nTPM
- choroid plexus: 8.2 nTPM
- pons: 4.9 nTPM
- medulla oblongata: 3.5 nTPM
- white matter: 2.5 nTPM
- cerebral cortex: 2.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GALNT12.
Disease | AllUniProt
Conditions GALNT12 is implicated in, by any mechanism.
- Colorectal cancer 1 (CRCS1) MIM:608812
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.94
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GALNT12 as an antibody target. Whether an autoantibody or antibody against GALNT12 could matter depends on whether native GALNT12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GALNT12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GALNT12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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