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FLASH GENE

Symbol

SLC25A1

contributors: mct/pgu - updated : 30-04-2013

HGNC name	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
HGNC id	10979

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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
	SP1 binding sites
	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)

regionally located

in the DGCR critical region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005984 9 - 1661 NP_005975 - 311 - 1997 9254007 NM_001256534 8 - 1680 NP_001243463 - 318 - 1997 9254007 Isoform 3 - - 1568 - 318 prostate 2010 20448665 with a different first exon

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatozoa Homo sapiens Adult

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
	required to prevent chromosome breaks (link between citrate metabolism, chromatin acetylation and chromosome integrity)
	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

Other	methylation, histone acetylation and Sp1 are important in the transcriptional regulation of the SLC25A1 proximal promoter
	regulated by SREBF1, a transcription factor that controls the expression of several lipogenic genes

ASSOCIATED DISORDERS

corresponding disease(s)

D2L2AD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function     deletion     deleted in DiGeorge syndrome (same interval than TUPLE1 and IDD)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS