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

Gene ID: 63910, updated on 17-Jun-2024

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
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Genomic context

See SLC17A9 in Genome Data Viewer
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_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61517086-61517616 Neighboring gene small nucleolar RNA, H/ACA box 117 Neighboring gene death inducer-obliterator 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61531289-61532143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61553829-61554340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:61556733-61557346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:61557347-61557960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61558843-61559691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61569565-61570233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61583471-61584300 Neighboring gene GID complex subunit 8 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13141 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61604715-61605564 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:61605565-61606416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61613574-61614491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61629479-61630243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61630758-61631400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61631401-61632042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61635197-61635710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61638035-61638740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61638741-61639448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61648125-61649092 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

Clone Names

  • FLJ23412

Gene Ontology Provided by GOA

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

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)

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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.

Genomic

  1. NG_041785.2 RefSeqGene

    Range
    5002..21878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302643.2NP_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: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  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:44386
    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

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    62952709..62969585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528978.3XP_011527280.1  voltage-gated purine nucleotide uniporter SLC17A9 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_936601.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    64752832..64769656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323810.1XP_054179785.1  voltage-gated purine nucleotide uniporter SLC17A9 isoform X1

RNA

  1. XR_008485289.1 RNA Sequence