Gene Gene information from NCBI Gene database.
Entrez ID 2589
Gene name Polypeptide N-acetylgalactosaminyltransferase 1
Gene symbol GALNT1
Synonyms (NCBI Gene)
GALNAC-T1
Chromosome 18
Chromosome location 18q12.2
Summary 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 GalN
miRNA miRNA information provided by mirtarbase database.
565
miRTarBase ID miRNA Experiments Reference
MIRT004049 hsa-miR-129-5p Review 20026422
MIRT005155 hsa-miR-30a-5p pSILAC 18668040
MIRT004049 hsa-miR-129-5p In situ hybridizationMicroarrayqRT-PCR 19487295
MIRT004049 hsa-miR-129-5p In situ hybridizationMicroarrayqRT-PCR 19487295
MIRT005155 hsa-miR-30a-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IBA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IDA 8690719, 9295285, 22186971
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IEA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity TAS 7592619
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602273 4123 ENSG00000141429
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q10472
Protein name Polypeptide N-acetylgalactosaminyltransferase 1 (EC 2.4.1.41) (Polypeptide GalNAc transferase 1) (GalNAc-T1) (pp-GaNTase 1) (Protein-UDP acetylgalactosaminyltransferase 1) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1) [Cleaved into: Polypep
Protein 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 (PubMed:8690719, PubMed:9295285). Has a broad spectrum of subst
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2 119 303 Glycosyl transferase family 2 Family
PF00652 Ricin_B_lectin 430 548 Ricin-type beta-trefoil lectin domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in all tissues tested. {ECO:0000269|PubMed:7592619}.
Sequence
MRKFAYCKVVLATSLIWVLLDMFLLLYFSECNKCDEKKERGLPAGDVLEPVQKPHEGPGE
MGKPVVIPKEDQEKMKEMFKINQFNLMASEMIALNRSLPDVRLEGCKTKVYPDNLPTTSV
VIVFHNEAWSTLLRTVHSVINRSPRHMIEEIVLVDDASERDFLKRPLESYVKKLKVPVHV
IRMEQRSGLIRARLKGAAVSKGQVITFLDAHCECTVGWLEPLLARIKHDRRTVVCPIIDV
ISDDTFEYMAGSDMTYGGFNWKLNFRWYPVPQREMDRRKGDRTLPVRTPTMAGGLFSIDR
DYF
QEIGTYDAGMDIWGGENLEISFRIWQCGGTLEIVTCSHVGHVFRKATPYTFPGGTGQ
IINKNNRRLAEVWMDEFKNFFYIISPGVTKVDYGDISSRVGLRHKLQCKPFSWYLENIYP
DSQIPRHYFSLGEIRNVETNQCLDNMARKENEKVGIFNCHGMGGNQVFSYTANKEIRTDD
LCLDVSKLNGPVTMLKCHHLKGNQLWEYDPVKLTLQHVNSNQCLDKATEEDSQVPSIRDC
NGSRSQQW
LLRNVTLPEIF
Sequence length 559
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways
  COPI-independent Golgi-to-ER retrograde traffic
O-linked glycosylation of mucins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma of bladder Bladder carcinoma BEFREE 23317233
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 18268124, 20142253 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 20142253
★☆☆☆☆
Found in Text Mining only
Child Development Disorders, Pervasive Development Disorder GWASCAT_DG 30804558
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29915311
★☆☆☆☆
Found in Text Mining only
Congenital heart disease Congenital Heart Disease BEFREE 25615642
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 28188250
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 20142253
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 28188250
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 25730904
★☆☆☆☆
Found in Text Mining only