InnateDB Protein
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IDBP-1281.6
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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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SLC25A1
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Protein Name
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solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
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Synonyms
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CTP; D2L2AD; SEA; SLC20A3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000215882
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InnateDB Gene
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IDBG-1279 (SLC25A1)
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Protein Structure
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Function |
Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway.
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Subcellular Localization |
Mitochondrion inner membrane; Multi-pass membrane protein.
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Disease Associations |
Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]: An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. {ECO:0000269PubMed:23561848}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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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 23 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
23
[view]
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Protein-Protein |
23
[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:0015137
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citrate transmembrane transporter 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 |
P53007
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PhosphoSite |
PhosphoSite-P53007
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TrEMBL |
B4DP62
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UniProt Splice Variant |
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Entrez Gene |
6576
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UniGene |
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RefSeq |
NP_005975
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HUGO |
HGNC:10979
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OMIM |
190315
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CCDS |
CCDS13758
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HPRD |
01832
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IMGT |
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EMBL |
AC004463
AK292313
AK298204
BC004980
BC008061
CH471176
L75823
L76134
U25147
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GenPept |
AAB08515
AAH04980
AAH08061
AAL40090
AAL40091
BAF85002
BAG60474
EAX03049
EAX03050
EAX03051
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