Homo sapiens Gene: SLC29A3
Summary
InnateDB Gene IDBG-77614.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC29A3
Gene Name solute carrier family 29 (nucleoside transporters), member 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000198246
Encoded Proteins
solute carrier family 29 (nucleoside transporters), member 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:71319258-71363385
Strand Forward strand
Band q22.1
Transcripts
ENST00000373189 ENSP00000362285
ENST00000479577
ENST00000469204
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005337 nucleoside transmembrane transporter activity
Biological Process
GO:0006810 transport
GO:0015858 nucleoside transport
GO:0055085 transmembrane transport
GO:1901642 nucleoside transmembrane transport
Cellular Component
GO:0005765 lysosomal membrane
GO:0016021 integral component of membrane
GO:0031902 late endosome membrane
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Transport of vitamins, nucleosides, and related molecules pathway
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway
SLC-mediated transmembrane transport pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.438419
RefSeq NM_001174098 NM_018344 XM_006717910
HUGO
OMIM
CCDS CCDS7310
HPRD 11570
IMGT
EMBL
GenPept
RNA Seq Atlas