Homo sapiens Protein: SLC25A1
Summary
InnateDB Protein IDBP-1281.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC25A1
Protein Name solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
Synonyms CTP; D2L2AD; SEA; SLC20A3;
Species Homo sapiens
Ensembl Protein ENSP00000215882
InnateDB Gene IDBG-1279 (SLC25A1)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Mitochondrion inner membrane; Multi-pass membrane protein.
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.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0015137 citrate transmembrane transporter activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0006810 transport
GO:0015746 citrate transport
GO:0019432 triglyceride biosynthetic process
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR002067 Mitochondrial carrier protein
IPR018108 Mitochondrial substrate/solute carrier
IPR023395 Mitochondrial carrier domain
PFAM PF00153
PRINTS PR00926
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P53007
PhosphoSite PhosphoSite-P53007
TrEMBL B4DP62
UniProt Splice Variant
Entrez Gene 6576
UniGene
RefSeq NP_005975
HUGO HGNC:10979
OMIM 190315
CCDS CCDS13758
HPRD 01832
IMGT
EMBL AC004463 AK292313 AK298204 BC004980 BC008061 CH471176 L75823 L76134 U25147
GenPept AAB08515 AAH04980 AAH08061 AAL40090 AAL40091 BAF85002 BAG60474 EAX03049 EAX03050 EAX03051