Format

Send to:

Choose Destination

GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 [ Homo sapiens (human) ]

Gene ID: 64409, updated on 23-Nov-2021

Summary

Official Symbol
GALNT17provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 17provided by HGNC
Primary source
HGNC:HGNC:16347
See related
Ensembl:ENSG00000185274 MIM:615137
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GALNT16; GALNT20; GALNTL3; WBSCR17; GALNACT17; GalNAc-T17; GalNAc-T19; GalNAc-T5L
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 protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]
Expression
Biased expression in brain (RPKM 15.1), ovary (RPKM 6.4) and 12 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See GALNT17 in Genome Data Viewer
Location:
7q11.22
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (71132144..71713599)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (70597130..71178584)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene activator of transcription and developmental regulator AUTS2 Neighboring gene uncharacterized LOC105375347 Neighboring gene neuroepithelial cell transforming 1 pseudogene Neighboring gene microRNA 3914-1 Neighboring gene microRNA 3914-2 Neighboring gene RN7SK pseudogene 75 Neighboring gene RNA, 5S ribosomal pseudogene 232 Neighboring gene calneuron 1 Neighboring gene ribosomal protein S28 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
GeneReviews: Not available
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
GeneReviews: Not available
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434I2216, DKFZp761D2324

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables polypeptide N-acetylgalactosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
polypeptide N-acetylgalactosaminyltransferase 17
Names
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16
Williams-Beuren syndrome chromosome region 17
galNAc-T-like protein 3
polypeptide GalNAc transferase 3
polypeptide GalNAc transferase-like protein 3
polypeptide N-acetylgalactosaminyltransferase WBSCR17
polypeptide N-acetylgalactosaminyltransferase-like 3
pp-GaNTase-like protein 3
pp-GalNAc-transferase 20
ppGalNAc-T17
protein-UDP acetylgalactosaminyltransferase-like protein 3
putative polypeptide N-acetylgalactosaminyltransferase-like protein 3
williams-Beuren syndrome chromosomal region 17 protein
NP_071924.1
XP_011514769.1
XP_011514771.1
XP_016868010.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_022479.3NP_071924.1  polypeptide N-acetylgalactosaminyltransferase 17

    See identical proteins and their annotated locations for NP_071924.1

    Status: REVIEWED

    Source sequence(s)
    AC004963, AF410457, AK290036
    Consensus CDS
    CCDS5540.1
    UniProtKB/Swiss-Prot
    Q6IS24
    UniProtKB/TrEMBL
    Q2L4S5
    Related
    ENSP00000329654.5, ENST00000333538.10
    Conserved Domains (2) summary
    cd02510
    Location:155454
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:467593
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    71132144..71713599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516467.3XP_011514769.1  polypeptide N-acetylgalactosaminyltransferase 17 isoform X1

    Conserved Domains (3) summary
    cd02510
    Location:155454
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    COG1216
    Location:156459
    GT2; Glycosyltransferase, GT2 family [Carbohydrate transport and metabolism]
    cd00161
    Location:467503
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
  2. XM_017012521.2XP_016868010.1  polypeptide N-acetylgalactosaminyltransferase 17 isoform X2

  3. XM_011516469.3XP_011514771.1  polypeptide N-acetylgalactosaminyltransferase 17 isoform X3

    Conserved Domains (2) summary
    COG0463
    Location:150306
    WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]
    cl11394
    Location:155320
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
Support Center