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FLASH GENE

Symbol

SLC25A4

contributors: mct - updated : 11-04-2015

HGNC name	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
HGNC id	10990

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	71.22 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D4S171 ,SLC25A4 - F11 F11 - D4S187 - D4S163 - D4S139 - FSHMD1A - qter
Text	see FSHMD1A

RNA

TRANSCRIPTS	type	messenger

text	with an isoform expressed in heart and skeletal muscle

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001151 4 - 4420 NP_001142 32.9 298 - 1998 9820802

EXPRESSION

Type

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 blood / hematopoietic thymus       highly Cardiovascular heart       highly Homo sapiens Endocrine neuroendocrine pituitary     highly Nervous brain       specific Homo sapiens   nerve cranial nerve     highly Homo sapiens Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose brown     Homo sapiens Adult mRNA Muscular striatum skeletal   specific Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

three tandemly repeated mitochondrial carrier protein domains (solcar repeats)

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Slc25a4

Homologene

FAMILY

mitochondrial carrier family

CATEGORY

enzyme , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus
text	synthesized in the cytosol, imported into mitochondria by internal targeting sequences and inserted in the inner membrane (IM)

basic FUNCTION	involved in ADP/ATP exchange across the mitochondrial inner membrane
	bi-functional protein that transports ADP and ATP across the mitochondrial membrane, and regulates the mitochondrial permeability transition pore, involved in initiating the apoptotic response
	involved in mitochondrial permeability transition (MPT), and accordingly in mitochondrial Ca2+ homeostasis
	mediates cell death, not through the MPT (mitochondrial permeability transition) pore, but rather via a ROS-dependent upregulation and activation of BAX
	involved in several aspects of cell metabolism, as well as in the regulation of cell death/survival processes
	can be a powerful tool for regulating the plasminogen activation system in the vessel
	central component of the mitochondrial permeability transition pore complex
	export the ATP produced by oxidative phosphorylation (OxPhos) from the mitochondria into the cytosol while importing ADP
	VDAC1 and SLC25A4 have central roles in mitochondrial functions such as nucleotides transport and cell death

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

mitochondrial transport

PATHWAY

metabolism

energetic

signaling

a component

complexing with cyclophilin D (PPID) and adenine nucleotide translocases (SLC25A4, SLC25A5, ANT3X) at the inner mitochondrial permeability transition pore

INTERACTION

DNA

RNA

small molecule

protein

interacts with HIV-1 VPR

cell & other

REGULATION

activated by

thyroid hormones

Other	regulated by MECP2 which interacts directly with YY1
	acetylation of SLC25A4 could have dramatic physiological effects on ADP-ATP exchange

ASSOCIATED DISORDERS

corresponding disease(s)

PEO2 , CACM2 , MTDPS12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in muscle of FSH myopathy, and mitochondrial dysfunction may thus be initial events in FSHD tumoral         silencing induces oxidative stress and programmed cell death in glioblastoma cells constitutional     --other   dysregulation of acetylation of mitochondrial proteins such as SLC25A4 therefore could be related to changes in mitochondrial function that are associated with insulin resistance.e constitutional     --low   in sporadic inclusion body myositis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy congenital increased expression represent potential therapeutic target in FSHD

ANIMAL & CELL MODELS

Ant1 mice develop mitochondrial myopathy associated with ragged-red fibers and abnormal mitochondria and a hypertrophic cardiopathy