Version 5.4
Homo sapiens Protein: SLC7A14
Summary
InnateDB Protein IDBP-64602.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC7A14
Protein Name solute carrier family 7 (orphan transporter), member 14
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000231706
InnateDB Gene IDBG-64600 (SLC7A14)
Protein Structure
UniProt Annotation
Function May be involved in arginine transport. {ECO:0000269PubMed:22787143, ECO:0000269PubMed:24670872}.
Subcellular Localization Lysosome membrane {ECO:0000269PubMed:22787143, ECO:0000269PubMed:24670872}; Multi- pass membrane protein {ECO:0000269PubMed:22787143, ECO:0000269PubMed:24670872}. Note=Exhibits a punctated pattern in the cytoplasm, which partially ovelaps with lysosomes.
Disease Associations Retinitis pigmentosa 68 (RP68) [MIM:615725]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:24670872}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in skin fibroblasts. {ECO:0000269PubMed:22787143}.
Comments
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:0015171 amino acid transmembrane transporter activity
Biological Process
GO:0003333 amino acid transmembrane transport
GO:0006810 transport
GO:0010923 negative regulation of phosphatase activity
GO:0055085 transmembrane transport
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR004841 Amino acid permease/ SLC12A domain
PFAM PF00324
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TBB6
PhosphoSite PhosphoSite-Q8TBB6
TrEMBL
UniProt Splice Variant
Entrez Gene 57709
UniGene Hs.596660
RefSeq NP_066000
HUGO HGNC:29326
OMIM 615720
CCDS CCDS33892
HPRD 17222
IMGT
EMBL AB046833 AC008041 AK122655 BC022968
GenPept AAH22968 BAB13439 BAG53645

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca