GALNT1

Polypeptide N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the GALNT1 gene.^[5][6][7]

GALNT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1XHB
Identifiers
Aliases	GALNT1, GALNAC-T1, polypeptide N-acetylgalactosaminyltransferase 1
External IDs	OMIM: 602273; MGI: 894693; HomoloGene: 8469; GeneCards: GALNT1; OMA:GALNT1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q12.2 Start 35,581,117 bp[1] End 35,711,834 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 A2 Start 24,338,401 bp[2] End 24,419,875 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell mucosa of pharynx nipple amniotic fluid oral cavity tibia superior surface of tongue lactiferous duct retinal pigment epithelium periodontal fiber Top expressed in endothelial cell of lymphatic vessel molar blood proximal tubule right kidney cardiac muscle tissue of left ventricle parotid gland decidua fossa ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function glycosyltransferase activity polypeptide N-acetylgalactosaminyltransferase activity transferase activity manganese ion binding metal ion binding carbohydrate binding Cellular component perinuclear region of cytoplasm integral component of membrane extracellular region Golgi cisterna membrane Golgi membrane Golgi apparatus membrane endoplasmic reticulum membrane Biological process protein glycosylation protein O-linked glycosylation via serine protein O-linked glycosylation via threonine O-glycan processing protein O-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2589 14423 Ensembl ENSG00000141429 ENSMUSG00000000420 UniProt Q10472 O08912 RefSeq (mRNA) NM_020474 NM_001160404 NM_013814 NM_001361200 RefSeq (protein) NP_065207 NP_001153876 NP_038842 NP_001348129 Location (UCSC) Chr 18: 35.58 – 35.71 Mb Chr 18: 24.34 – 24.42 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature.^[7]