Gene Gene information from NCBI Gene database.
Entrez ID 64409
Gene name Polypeptide N-acetylgalactosaminyltransferase 17
Gene symbol GALNT17
Synonyms (NCBI Gene)
GALNACT17GALNT16GALNT20GALNTL3GalNAc-T17GalNAc-T19GalNAc-T5LWBSCR17
Chromosome 7
Chromosome location 7q11.22
Summary This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This prote
miRNA miRNA information provided by mirtarbase database.
152
miRTarBase ID miRNA Experiments Reference
MIRT614216 hsa-miR-8485 HITS-CLIP 19536157
MIRT611192 hsa-miR-329-3p HITS-CLIP 19536157
MIRT611191 hsa-miR-362-3p HITS-CLIP 19536157
MIRT611190 hsa-miR-3620-3p HITS-CLIP 19536157
MIRT611189 hsa-miR-6752-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IBA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IEA
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615137 16347 ENSG00000185274
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6IS24
Protein name Polypeptide N-acetylgalactosaminyltransferase 17 (EC 2.4.1.41) (Polypeptide GalNAc transferase-like protein 3) (GalNAc-T-like protein 3) (pp-GaNTase-like protein 3) (Protein-UDP acetylgalactosaminyltransferase-like protein 3) (UDP-GalNAc:polypeptide N-ace
Protein function May catalyze 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2 155 341 Glycosyl transferase family 2 Family
PF00652 Ricin_B_lectin 465 591 Ricin-type beta-trefoil lectin domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen. {ECO:0000269|PubMed:12073013}.
Sequence
MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRPRAEVANLSAHSASPIQ
DAVLKRLSLLEDIVYRQLNGLSKSLGLIEGYGGRGKGGLPATLSPAEEEKAKGPHEKYGY
NSYLSEKISLDRSIPDYRPTKCKELKYSKDLPQISIIFIFVNEALSVILRSVHSAVNHTP
THLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVVRNQKREGLIRARIEGWKVATGQ
VTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSIDNIKQDNFEVQRYENSAHGYSWELW
CMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNRKFFGEIG
LLDPGMDVYGGENIELGIK
VWLCGGSMEVLPCSRVAHIERKKKPYNSNIGFYTKRNALRVAEVWMDDYKSHVYIAWNLP
LENPGIDIGDVSERRALRKSLKCKNFQWYLDHVYPEMRRYNNTVAYGELRNNKAKDVCLD
QGPLENHTAILYPCHGWGPQLARYTKEGFLHLGALGTTTLLPDTRCLVDNSKSRLPQLLD
CDKVKSSLYKRWNFIQNGAIMNKGTGRCLEVENRGLAGIDLILRSCTGQRW
TIKNSIK
Sequence length 598
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
  O-linked glycosylation of mucins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
BRONCHOPNEUMONIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autism Spectrum Disorder Associate 27876814
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 25774687
★☆☆☆☆
Found in Text Mining only
Plaque Atherosclerotic Associate 29221444
★☆☆☆☆
Found in Text Mining only
Williams Syndrome Associate 27876814
★☆☆☆☆
Found in Text Mining only