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    SLC17A5 solute carrier family 17 member 5 [ Homo sapiens (human) ]

    Gene ID: 26503, updated on 11-Nov-2017
    Official Symbol
    SLC17A5provided by HGNC
    Official Full Name
    solute carrier family 17 member 5provided by HGNC
    Primary source
    HGNC:HGNC:10933
    See related
    Ensembl:ENSG00000119899 MIM:604322; Vega:OTTHUMG00000015039
    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
    SD; AST; NSD; SLD; ISSD; SIASD; SIALIN
    Summary
    This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    6q13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (73593378..73654014, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74303102..74363737, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377857 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 Neighboring gene ribosomal protein S27 pseudogene 15 Neighboring gene uncharacterized LOC101928489 Neighboring gene CD109 molecule Neighboring gene thioredoxin pseudogene 7

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat FITC-labeled Tat 47-59 peptide upregulates gene expression of solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22227, FLJ23268

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sialic acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sialic acid:proton symporter activity TAS
    Traceable Author Statement
    more info
     
    sugar:proton symporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    amino acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    anion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    carboxylic acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    ion transport TAS
    Traceable Author Statement
    more info
     
    proton transport IEA
    Inferred from Electronic Annotation
    more info
     
    sialic acid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    sialin
    Names
    H(+)/nitrate cotransporter
    H(+)/sialic acid cotransporter
    membrane glycoprotein HP59
    sialic acid storage disease
    sodium/sialic acid cotransporter
    solute carrier family 17 (acidic sugar transporter), member 5
    solute carrier family 17 (anion/sugar transporter), member 5
    vesicular H(+)/Aspartate-glutamate cotransporter

    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_008272.1 RefSeqGene

      Range
      5001..65636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012434.4NP_036566.1  sialin

      See identical proteins and their annotated locations for NP_036566.1

      Status: REVIEWED

      Source sequence(s)
      AK026921, BC020961, BP288187
      Consensus CDS
      CCDS4981.1
      UniProtKB/Swiss-Prot
      Q9NRA2
      Related
      ENSP00000348019.5, OTTHUMP00000016747, ENST00000355773.5, OTTHUMT00000041228
      Conserved Domains (2) summary
      cd06174
      Location:99478
      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 ...
      TIGR00894
      Location:30491
      2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      73593378..73654014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010730.1XP_016866219.1  sialin isoform X4

    2. XM_005248711.2XP_005248768.1  sialin isoform X2

      Conserved Domains (2) summary
      cd06174
      Location:33412
      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 ...
      TIGR00893
      Location:38406
      2A0114; D-galactonate transporter
    3. XM_017010731.1XP_016866220.1  sialin isoform X4

    4. XM_005248710.3XP_005248767.1  sialin isoform X1

      Conserved Domains (2) summary
      cd06174
      Location:82461
      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 ...
      TIGR00894
      Location:16474
      2A0114euk; Na(+)-dependent inorganic phosphate cotransporter
    5. XM_011535750.2XP_011534052.1  sialin isoform X3

      Conserved Domains (1) summary
      cd06174
      Location:44386
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      74469444..74529997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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