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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

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