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FLASH GENE
Symbol SLC25A1 contributors: mct - updated : 30-04-2013
HGNC name solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
HGNC id 10979
Corresponding disease
D2L2AD D-2- and L-2-hydroxyglutaric aciduria
Location 22q11.21      Physical location : 19.163.094 - 19.166.301
Synonym name
  • tricarboxylate carrier protein
  • solute carrier family 20 (mitochondrial citrate transporter), member 3
  • citrate transport protein
  • mitochondrial citrate carrier
    • Synonym symbol(s) CTP1, DGCR5, DGS-J, CTP, SLC20A3, ODC1, CIC
    DNA
    TYPE functioning gene
    STRUCTURE 3.25 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   silencer   transcription factor
    text structure
  • binding site for the FOXA transcription factor that plays a role in the transcriptional regulation of SLC25A1 and insulin secretion (Iacobazzi 2009)
  • SP1 binding sites (Iacobazzi 2008)
  • a functional peroxisome proliferator-activated receptor response element (PPRE), identified in the SLC25A1 promoter, conferred responsiveness to activation by PPARs
    • MAPPING cloned Y linked N status confirmed
    Map cen - DGCR9 - CALS2 - SLC25A1 - CLTCL1 - HIRA - PRODH - DGCR6 - ZNF74 - SCARF2 - KLHL22 - VPREB1 - qter
    Authors Lund (00)
    Physical map
    BCL2L13 22q11.2 BCL2-like 13 (apoptosis facilitator) BID 22q11.21 BH3 interacting domain death agonist FLJ40542 22q11.21 hypothetical protein FLJ40542 LOC388843 22 LOC388843 KIAA0819 22q11.21 KIAA0819 protein MICAL3 22q11.21 flavoprotein oxidoreductase MICAL3 PEX26 22q11.21 peroxisome biogenesis factor 26 TUBA8 22q11 tubulin, alpha 8 USP18 22q11.21 ubiquitin specific protease 18 LOC391291 22 LOC391291 LOC388844 22 hypothetical gene supported by AK097777; AK128837; AK129567; BC040613 LOC220522 22q11.21 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC391292 22 similar to immunoglobulin superfamily, member 3; immunoglobin superfamily, member 3 LOC386610 22q11.21 E2F transcription factor 6 pseudogene LOC388845 22 LOC388845 LOC388846 22 similar to hypothetical protein DKFZp434P211.1 - human (fragments) LOC388847 22 similar to breakpoint cluster region isoform 1 LOC391293 22 LOC391293 LOC388848 22 LOC388848 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 DGCR5 22q11 DiGeorge syndrome critical region gene 5 (non-coding) LOC391294 22 similar to POM121 membrane glycoprotein-like 1 LOC343830 22q11.21 similar to carbonic anhydrase XV DGCR2 22q11.21 DiGeorge syndrome critical region gene 2 LOC391295 22 similar to serine/threonine kinase FKSG81; spermiogenesis associated 4 STK22B 22q11.2 serine/threonine kinase 22B (spermiogenesis associated) DGCR14 22q11.21 DiGeorge syndrome critical region gene 14 GSCL 22q11.21 goosecoid-like SLC25A1 22q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 CLTCL1 22q11.21 clathrin, heavy polypeptide-like 1 HIRA 22q11.21-q11.23 HIR histone cell cycle regulation defective homolog A (S. cerevisiae) MRPL40 22q11.2 mitochondrial ribosomal protein L40 LOC128977 22q11.21 hypothetical protein LOC128977 UFD1L 22q11.21 ubiquitin fusion degradation 1-like CDC45L 22q11.2 CDC45 cell division cycle 45-like (S. cerevisiae) CLDN5 22q11.21 claudin 5 (transmembrane protein deleted in velocardiofacial syndrome) PNUTL1 22q11.21 peanut-like 1 (Drosophila) GP1BB 22q11.21 glycoprotein Ib (platelet), beta polypeptide LOC391296 22 similar to contains similarity to cell wall-plasma membrane linker protein~gene_id:MKA23.5 TBX1 22q11.21 T-box 1 GNB1L 22q11.2 guanine nucleotide binding protein (G protein), beta polypeptide 1-like FLJ21125 22q11.21 hypothetical protein FLJ21125 TXNRD2 22q11.21 thioredoxin reductase 2 COMT 22q11.2 catechol-O-methyltransferase ARVCF 22q11.21 armadillo repeat gene deletes in velocardiofacial syndrome DKFZp761P1121 22q11.21 hypothetical protein DKFZp761P1121 DGCR8 22q11.2 DiGeorge syndrome critical region gene 8 HTF9C 22q11.2 DiGeorge syndrome critical region gene 8 RANBP1 22q11.21 RAN binding protein 1 ZDHHC8 22q11.1 zinc finger, DHHC domain containing 8
    regionally located in the DGCR critical region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1661 - 311 - 1997 9254007
    8 - 1680 - 318 - 1997 9254007
    - - 1568 - 318 prostate 2010 20448665
    with a different first exon
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatozoa Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion present in ejaculated human sperm
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • tricarboxylate transporter
  • three tandemly repeated mitochondrial carrier protein domains
  • six transmembrane spanning segments (6TM)
    • isoforms Precursor presequence of 13aa
    HOMOLOGY
    interspecies homolog to murine Slc25a1 (94.2pc)
    homolog to rattus Slc25a1 (95.1pc)
    Homologene
    FAMILY
  • solute carrier family 25 mitochondrial, citrate
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text
  • essential component of the shuttle system which transports acetyl-CoA from mitochondria to the cytosol where lipogenesis occurs
    • basic FUNCTION
  • involved in the citrate H+ /malate exchange, important for the bioenergetics of hepatic cells
  • plays a regulatory role in glucose-stimulated insulin secretion
  • having a role in the regulation of chromosome integrity (Morciano 2009)
  • required to prevent chromosome breaks (link between citrate metabolism, chromatin acetylation and chromosome integrity) (Morciano 2009)
  • catalyses the efflux of citrate from the mitochondrial matrix in exchange for cytosolic malate
  • has a critical role in inflammation
  • works with other factors in the regulation of sperm energy metabolism to sustain capacitation process and acrosome reaction
  • maintains mitochondrial homeostasis in metabolically active, high proliferating tissues
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text energy transfer
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    repressed by ZNF224 (Iacobazzi 2009)
    Other methylation, histone acetylation and Sp1 are important in the transcriptional regulation of the SLC25A1 proximal promoter (Iacobazzi 2008)
    regulated by SREBF1, a transcription factor that controls the expression of several lipogenic genes
    ASSOCIATED DISORDERS
    corresponding disease(s) D2L2AD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
        deletion    
    deleted in DiGeorge syndrome (same interval than TUPLE1 and IDD)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS