InnateDB Protein
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IDBP-591237.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC25A22
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Protein Name
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solute carrier family 25 (mitochondrial carrier: glutamate), member 22
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000437236
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InnateDB Gene
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IDBG-18043 (SLC25A22)
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Protein Structure
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Function |
Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). {ECO:0000269PubMed:11897791}.
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Subcellular Localization |
Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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Disease Associations |
Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. {ECO:0000269PubMed:15592994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in most tissues.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
14
[view]
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Protein-Protein |
14
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005313
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L-glutamate transmembrane transporter activity
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GO:0015293
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symporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002067
Mitochondrial carrier protein
IPR018108
Mitochondrial substrate/solute carrier
IPR023395
Mitochondrial carrier domain
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PFAM |
PF00153
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PRINTS |
PR00926
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H936
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PhosphoSite |
PhosphoSite-Q9H936
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TrEMBL |
K4DIB8
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UniProt Splice Variant |
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Entrez Gene |
79751
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UniGene |
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RefSeq |
NP_001177989
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HUGO |
HGNC:19954
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OMIM |
609302
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CCDS |
CCDS7715
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HPRD |
15356
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IMGT |
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EMBL |
AJ428202
AK023106
AK290481
AP006621
BC019033
BC023545
BC024212
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GenPept |
AAH19033
AAH23545
AAH24212
BAB14407
BAF83170
CAD21007
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