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

Gene ID: 63910, updated on 18-Aug-2020

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
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

Genomic context

See SLC17A9 in Genome Data Viewer
Location:
20q13.33
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (62952690..62969585)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61583999..61599949)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 117 Neighboring gene death inducer-obliterator 1 Neighboring gene GID complex subunit 8 homolog Neighboring gene long intergenic non-protein coding RNA 1749 Neighboring gene basic helix-loop-helix family member e23 Neighboring gene uncharacterized LOC105372718

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23412

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
exocytosis IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_041785.1 RefSeqGene

    Range
    5001..20951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302643.2NP_001289572.2  solute carrier family 17 member 9 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
    Related
    ENSP00000359374.3, ENST00000370349.7
    Conserved Domains (1) summary
    cd17380
    Location:32416
    MFS_SLC17A9_like; Solute carrier family 17 member 9 and similar proteins of the Major Facilitator Superfamily of transporters
  2. NM_022082.4NP_071365.4  solute carrier family 17 member 9 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
    Related
    ENSP00000359376.4, ENST00000370351.9
    Conserved Domains (1) summary
    pfam07690
    Location:44386
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    62952690..62969585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528978.2XP_011527280.1  solute carrier family 17 member 9 isoform X1

    Conserved Domains (1) summary
    cd06174
    Location:1301
    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 ...

RNA

  1. XR_936601.3 RNA Sequence

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