Homo sapiens Gene: SLC17A5

Summary
InnateDB Gene IDBG-92538.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol SLC17A5
Gene Name solute carrier family 17 (anion/sugar transporter), member 5
Synonyms AST; ISSD; NSD; SD; SIALIN; SIASD; SLD
Species Homo sapiens
Ensembl Gene ENSG00000119899
Encoded Proteins
IDBP-92540 solute carrier family 17 (anion/sugar transporter), member 5
IDBP-244468 solute carrier family 17 (anion/sugar transporter), member 5
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6: 74303102-74363878
Strand Reverse strand
Band q13
Transcripts
ENST00000355773  ENSP00000348019
ENST00000393019  ENSP00000376742
ENST00000481996 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein‑Protein  0
Protein‑DNA 1
[view]
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005351 sugar:hydrogen symporter activity
GO:0015136 sialic acid transmembrane transporter activity
GO:0022857 transmembrane transporter activity
Biological Process
GO:0006811 ion transport
GO:0006820 anion transport
GO:0015739 sialic acid transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0005887 integral to plasma membrane
GO:0016020 membrane
GO:0016021 integral to membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000049624 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000044053 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_19372 Organic anion transporters
KEGG
hsa04142  Lysosome
INOH
PID BIOCARTA
PID NCI
Organic_anion_transporters Organic anion transporters
Cross-References
SwissProt Q9NRA2 
TrEMBL B4DFF2 H0UI05
UniProt Splice Variant
Entrez Gene 26503 
UniGene Hs.597422 Hs.703047
RefSeq NM_012434 
HUGO 10933 
OMIM 604322
CCDS CCDS4981 
HPRD 05058
IMGT
EMBL AF244577 AJ387747 AK075320 AK294068 AL121972 AL590428 BC020961 CH471051
GenPept AAF97769  AAH20961  BAC11546  BAG57413  CAB62540  CAI15635  CAI20417  EAW48756  EAW48757 
ImmGen SLC17A5 (murine) 
RNA Seq Atlas 26503