SLC17A9 solute carrier family 17 member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC17A9provided by HGNC
Official Full Name: solute carrier family 17 member 9provided by HGNC
Primary source: HGNC:HGNC:16192
See related: Ensembl:ENSG00000101194 MIM:612107; AllianceGenome:HGNC:16192
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: VNUT; POROK8; C20orf59
Summary: This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression: Broad expression in stomach (RPKM 12.3), bone marrow (RPKM 8.3) and 20 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 20q13.33

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (62952709..62969585)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (64752832..64769656)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (61584061..61600937)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LINC01836 Promotes Colorectal Cancer Progression and Functions as ceRNA to Target SLC17A9 by Sponging miR-1226-3p.
Title: LINC01836 Promotes Colorectal Cancer Progression and Functions as ceRNA to Target SLC17A9 by Sponging miR-1226-3p.
Single-nucleotide polymorphisms of the SLC17A9 and P2RY12 genes are significantly associated with phantom tooth pain.
Title: Single-nucleotide polymorphisms of the SLC17A9 and P2RY12 genes are significantly associated with phantom tooth pain.
[VNUT Is a Therapeutic Target for Type 2 Diabetes and NASH].
Title: [VNUT Is a Therapeutic Target for Type 2 Diabetes and NASH].
Transient Receptor Potential Vanilloid 4 Regulation of Adenosine Triphosphate Release by the Adenosine Triphosphate Transporter Vesicular Nucleotide Transporter, a Novel Therapeutic Target for Gastrointestinal Baroreception and Chronic Inflammation.
Title: Transient Receptor Potential Vanilloid 4 Regulation of Adenosine Triphosphate Release by the Adenosine Triphosphate Transporter Vesicular Nucleotide Transporter, a Novel Therapeutic Target for Gastrointestinal Baroreception and Chronic Inflammation.
High expression of SLC17A9 was associated with gastric cancer.
Title: High SLC17A9 expression correlates with poor survival in gastric carcinoma.
our data suggested that SLC17A9 may play an important role in the progression of colorectal cancer
Title: High expression of SLC17A9 correlates with poor prognosis in colorectal cancer.
expression of TRPV4 and VNUT in normal human gastrointestinal cell derived cell lines
Title: Involvement of VNUT-exocytosis in transient receptor potential vanilloid 4-dependent ATP release from gastrointestinal epithelium.
Data (including data from studies using knockout mice) suggest that VNUT/SLC17A9 localized in tertiary/secretory granules of neutrophils is responsible for vesicular ATP release and subsequent neutrophil migration/infiltration.
Title: Vesicular nucleotide transporter mediates ATP release and migration in neutrophils.
Results identified SLC17A9 as another pathogenic gene for DSAP, which suggests a correlation between the aberrant vesicular nucleotide transporter and the pathogenesis of DSAP.
Title: Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
data suggest that SLC17A9 activity mediates lysosomal ATP accumulation and plays an important role in lysosomal physiology and cell viability.
Title: SLC17A9 protein functions as a lysosomal ATP transporter and regulates cell viability.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Porokeratosis 8, disseminated superficial actinic type MedGen: C4015128 OMIM: 616063 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G32772 (e-PCR)
- UniSTS:117352

RH67463 (e-PCR)
- UniSTS:86984

RH78178 (e-PCR)
- UniSTS:86508

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables guanine nucleotide transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables purine nucleotide uniporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within ADP transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect ATP export	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ATP transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ATP transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within ATP transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within guanine nucleotide transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in purine nucleotide import into lysosome	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromaffin granule membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mucin granule	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: voltage-gated purine nucleotide uniporter SLC17A9

Names: solute carrier family 17 (vesicular nucleotide transporter), member 9; vesicular nucleotide transporter SLC17A9

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

NG_041785.2 RefSeqGene

Range

5002..21878

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001302643.2 → NP_001289572.2 voltage-gated purine nucleotide uniporter SLC17A9 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct, shorter N-terminus than isoform 1.

Source sequence(s)

AL121673

Consensus CDS

CCDS77600.1

UniProtKB/TrEMBL

B4DPU8

Related

ENSP00000359374.3, ENST00000370349.7

Conserved Domains (1) summary

cd17380
Location:32 → 416

MFS_SLC17A9_like; Solute carrier family 17 member 9 and similar proteins of the Major Facilitator Superfamily of transporters
NM_022082.4 → NP_071365.4 voltage-gated purine nucleotide uniporter SLC17A9 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

AL121673

Consensus CDS

CCDS42901.1

UniProtKB/Swiss-Prot

B3KTF2, Q5W198, Q8TB07, Q8TBP4, Q8TEL5, Q9BYT0, Q9BYT1, Q9BYT2

UniProtKB/TrEMBL

B4DPU8

Related

ENSP00000359376.4, ENST00000370351.9

Conserved Domains (1) summary

pfam07690
Location:44 → 386

MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

62952709..62969585

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528978.3 → XP_011527280.1 voltage-gated purine nucleotide uniporter SLC17A9 isoform X1

Conserved Domains (1) summary

cd06174
Location:1 → 301

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...