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

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; AllianceGenome:HGNC:16347
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: mouse all
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Genomic context

Location:: 7q11.22

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (71132144..71713599)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (72350331..72931329)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (70597130..71178584)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Parkinson's Disease Risk Variant rs9638616 is Non-Specifically Associated with Altered Brain Structure and Function.
Title: Parkinson's Disease Risk Variant rs9638616 is Non-Specifically Associated with Altered Brain Structure and Function.
Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.
Title: Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.
Circ_WBSCR17 aggravates inflammatory responses and fibrosis by targeting miR-185-5p/SOX6 regulatory axis in high glucose-induced human kidney tubular cells.
Title: Circ_WBSCR17 aggravates inflammatory responses and fibrosis by targeting miR-185-5p/SOX6 regulatory axis in high glucose-induced human kidney tubular cells.
GWA study identified maternal genetic effects not previously identified in ASD at a locus in WBSCR17.
Title: A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
a subset of O-glycosylation produced by WBSCR17 controls dynamic membrane trafficking, probably between the cell surface and the late endosomes through macropinocytosis
Title: A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S1407 (e-PCR)
- UniSTS:21527

GDB:3754866 (e-PCR)
- UniSTS:57115

SHGC-104886 (e-PCR)
- UniSTS:169019

GDB:1317364 (e-PCR)
- UniSTS:6466

SHGC-83093 (e-PCR)
- UniSTS:184651

SHGC-84166 (e-PCR)
- UniSTS:184654

STS-H15176 (e-PCR)
- UniSTS:44629

GDB:4585200 (e-PCR)
- UniSTS:21590

GDB:3778209 (e-PCR)
- UniSTS:22106

G17161 (e-PCR)
- UniSTS:82782

D7S2516 (e-PCR), detects polymorphism
- UniSTS:3429

GDB:4584959 (e-PCR)
- UniSTS:20840

G54788 (e-PCR)
- UniSTS:117871

WI-20075 (e-PCR)
- UniSTS:6027

D7S1979 (e-PCR)
- UniSTS:18851

D7S2270E (e-PCR)
- UniSTS:56741

RH65189 (e-PCR)
- UniSTS:91825

D7S1568 (e-PCR)
- UniSTS:42687

SHGC-153010 (e-PCR)
- UniSTS:177629

RH66296 (e-PCR)
- UniSTS:7649

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	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 2.4.1.41

XP_011514769.1

EC 2.4.1.41

XP_011514771.1

EC 2.4.1.41

XP_016868010.1

EC 2.4.1.41

XP_054214774.1

EC 2.4.1.41

XP_054214775.1

EC 2.4.1.41

XP_054214776.1

EC 2.4.1.41

NCBI Reference Sequences (RefSeq)

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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)

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

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, Q8NFV9, Q9NTA8

UniProtKB/TrEMBL

Q2L4S5, Q58A53

Related

ENSP00000329654.5, ENST00000333538.10

Conserved Domains (2) summary

cd02510
Location:155 → 454

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

cd00161
Location:467 → 593

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

71132144..71713599

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516467.4 → XP_011514769.1 polypeptide N-acetylgalactosaminyltransferase 17 isoform X1

UniProtKB/TrEMBL

Q58A53

Conserved Domains (3) summary

cd02510
Location:155 → 454

pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans

COG1216
Location:156 → 459

GT2; Glycosyltransferase, GT2 family [Carbohydrate transport and metabolism]

cd00161
Location:467 → 503

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 ...
XM_017012521.3 → XP_016868010.1 polypeptide N-acetylgalactosaminyltransferase 17 isoform X2
XM_011516469.4 → XP_011514771.1 polypeptide N-acetylgalactosaminyltransferase 17 isoform X3

Conserved Domains (2) summary

COG0463
Location:150 → 306

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

cl11394
Location:155 → 320

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

72350331..72931329

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358799.1 → XP_054214774.1 polypeptide N-acetylgalactosaminyltransferase 17 isoform X1

UniProtKB/TrEMBL

Q58A53
XM_054358800.1 → XP_054214775.1 polypeptide N-acetylgalactosaminyltransferase 17 isoform X2
XM_054358801.1 → XP_054214776.1 polypeptide N-acetylgalactosaminyltransferase 17 isoform X3