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

    Gene ID: 26503, updated on 5-Mar-2024

    Summary

    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; AllianceGenome:HGNC:10933
    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; VEAT; 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 24.0), kidney (RPKM 11.9) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC17A5 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73593379..73653992, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74770746..74832087, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74303102..74363715, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74229093-74229915 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74229916-74230737 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74230738-74231560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17337 Neighboring gene EEF1A1 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24752 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:74273247-74273796 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74275447-74275996 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74285738-74286453 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:74289636-74290835 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74291165-74292007 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94401 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94402 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94403 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94405 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74329139-74329367 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:74333473-74333650 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94408 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94411 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94413 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94414 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94416 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94418 Neighboring gene ribosomal protein S27 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24754 Neighboring gene Sharpr-MPRA regulatory region 11313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74405769-74406483 Neighboring gene CD109 antisense RNA 1 Neighboring gene MPRA-validated peak5902 silencer Neighboring gene CD109 molecule Neighboring gene Sharpr-MPRA regulatory region 9272 Neighboring gene MPRA-validated peak5903 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74550244-74550817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:74560911-74561502 Neighboring gene thioredoxin pseudogene 7

    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?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22227, FLJ23268

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in D-glucuronate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carbohydrate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic anion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sialic acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within sialic acid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sialin
    Names
    H(+)/nitrate cotransporter
    H(+)/sialic acid cotransporter
    acidic sugar transporter
    infantile sialic acid storage disorder
    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
    vesicular excitatory amino acid transporter

    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_008272.1 RefSeqGene

      Range
      5023..65636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001382629.1NP_001369558.1  sialin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      UniProtKB/TrEMBL
      B2RE38
      Conserved Domains (1) summary
      cd17381
      Location:14401
      MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
    2. NM_001382630.1NP_001369559.1  sialin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      UniProtKB/TrEMBL
      B2RE38
      Conserved Domains (1) summary
      cd17381
      Location:42420
      MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
    3. NM_001382631.1NP_001369560.1  sialin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      UniProtKB/TrEMBL
      B2RE38
      Conserved Domains (1) summary
      cd17381
      Location:49485
      MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
    4. NM_001382632.1NP_001369561.1  sialin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      UniProtKB/TrEMBL
      B2RE38
      Conserved Domains (1) summary
      cd17381
      Location:42449
      MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
    5. NM_001382633.1NP_001369562.1  sialin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      UniProtKB/TrEMBL
      B2RE38
      Conserved Domains (1) summary
      cd17381
      Location:42458
      MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
    6. NM_001382634.1NP_001369563.1  sialin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      UniProtKB/TrEMBL
      B2RE38
    7. NM_001382635.1NP_001369564.1  sialin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      UniProtKB/TrEMBL
      B2RE38
      Conserved Domains (1) summary
      cd17381
      Location:42477
      MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters
    8. NM_001382636.1NP_001369565.1  sialin isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL121972, AL590428
      Conserved Domains (1) summary
      cl28910
      Location:14372
      MFS; Major Facilitator Superfamily
    9. NM_012434.5NP_036566.1  sialin isoform 1

      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
      Q5SZ76, Q8NBR5, Q9NRA2, Q9UGH0
      UniProtKB/TrEMBL
      B2RE38
      Related
      ENSP00000348019.5, ENST00000355773.6
      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: 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      73593379..73653992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418631.1XP_047274587.1  sialin isoform X2

    2. XM_047418630.1XP_047274586.1  sialin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      74770746..74832087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355144.1XP_054211119.1  sialin isoform X2

    2. XM_054355143.1XP_054211118.1  sialin isoform X1