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

Gene ID: 26503, updated on 17-Jun-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
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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)

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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_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