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

    Gene ID: 63910, updated on 9-Dec-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
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC17A9 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62952709..62969585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64752832..64769656)
    RS_2024_09 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 13141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13140 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 basic helix-loop-helix family member e23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61648125-61649092 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)

    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

    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_2024_08

    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