InnateDB Protein
|
IDBP-244534.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SLC17A8
|
Protein Name
|
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000376715
|
InnateDB Gene
|
IDBG-52855 (SLC17A8)
|
Protein Structure
|
|
Function |
Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. {ECO:0000269PubMed:12151341}.
|
Subcellular Localization |
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell junction, synapse, synaptosome {ECO:0000250}.
|
Disease Associations |
Deafness, autosomal dominant, 25 (DFNA25) [MIM:605583]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged. {ECO:0000269PubMed:18674745}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus. {ECO:0000269PubMed:12151341}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR011701
Major facilitator superfamily
IPR016196
Major facilitator superfamily domain, general substrate transporter
IPR020846
Major facilitator superfamily domain
|
PFAM |
PF07690
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8NDX2
|
PhosphoSite |
PhosphoSite-
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
246213
|
UniGene |
Hs.116871
|
RefSeq |
NP_001138760
|
HUGO |
HGNC:20151
|
OMIM |
607557
|
CCDS |
CCDS44957
|
HPRD |
10457
|
IMGT |
|
EMBL |
AJ459241
AK128319
BC117229
BC143396
CH471054
|
GenPept |
AAI17230
AAI43397
BAG54658
CAD30553
EAW97637
|
|
|