GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64409
Gene name Gene Name - the full gene name approved by the HGNC.
Polypeptide N-acetylgalactosaminyltransferase 17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GALNT17
Synonyms (NCBI Gene) Gene synonyms aliases
GALNACT17, GALNT16, GALNT20, GALNTL3, GalNAc-T17, GalNAc-T19, GalNAc-T5L, WBSCR17
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615137 16347 ENSG00000185274
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
CMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNRKFFGEIGLLDPGMDVYGGENIELGIK
VWLCGGSMEVLPCSRVAHIERKKKPYNSNIGFYTKRNALRVAEVWMDDYKSHVYIAWNLP
LENPGIDIGDVSERRALRKSLKCKNFQWYLDHVYPEMRRYNNTVAYGELRNNKAKDVCLD
QGPLENHTAILYPCHGWGPQLARYTKEGFLHLGALGTTTLLPDTRCLVDNSKSRLPQLLD
CDKVKSSLYKRWNFIQNGAIMNKGTGRCLEVENRGLAGIDLILRSCTGQRWTIKNSIK
Sequence length 598
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways 		  O-linked glycosylation of mucins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer specific mortality in estrogen receptor positive breast cancer, Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes, Diabetic peripheral neuropathy in type 2 diabetes N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 27876814
Breast Neoplasms Associate 25774687
Plaque Atherosclerotic Associate 29221444
Williams Syndrome Associate 27876814