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

Gene ID: 26503, updated on 17-Jun-2019

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
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]
Expression
Ubiquitous expression in thyroid (RPKM 24.0), kidney (RPKM 11.9) and 24 other tissues See more
Orthologs

Genomic context

See SLC17A5 in Genome Data Viewer
Location:
6q13
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (73593379..73653992, 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 mitochondrial tRNA translation optimization 1 Neighboring gene RNA, 7SL, cytoplasmic 827, pseudogene 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 Sharpr-MPRA regulatory region 9272

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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22227, FLJ23268

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate:proton symporter activity TAS
Traceable Author Statement
more info
PubMed 
sialic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sialic acid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
sialic acid:proton symporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
amino acid transport IEA
Inferred from Electronic Annotation
more info
 
anion transport TAS
Traceable Author Statement
more info
PubMed 
carbohydrate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ion transport TAS
Traceable Author Statement
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
sialic acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane HDA PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_012434.5NP_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, 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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