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FLASH GENE

Symbol

SLC25A5

contributors: mct - updated : 22-05-2016

HGNC name	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5
HGNC id	10991

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HARTS Hartsfield syndrome
Location	Xq24      Physical location : 118.602.362 - 118.605.357
Synonym name	solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 5,(?unlikely to be EFE locus)
	ADP/ATP translocator of fibroblasts
	adenine nucleotide translocase-2
	ADP/ATP translocase 2
Synonym symbol(s)	ANT2, T3, ADT2, 2F1, AAC2, T2

DNA

TYPE	functioning gene
STRUCTURE	2.99 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
	Binding site   silencer
text structure	Sp1activating element and an upstream silencer

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - DXS1072 - DXS19 - DXS424 - DXS37 - SLC25A5 - DXS1212 - DXS42 - qter
Authors	Schiebel (94), Consensus (95)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001152 4 - 1351 NP_001143 - 298 - 2010 19763879

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         Homo sapiens Adult mRNA Nervous brain limbic system hippocampus   highly Homo sapiens   brain forebrain cerebral cortex   highly Homo sapiens

tissue

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

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 Slc25a5

Homologene

FAMILY

solute carrier family 25, mitochondrial, adenine nucleotide

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus
text	imports glycolytically produced ATP into the mitochondria

basic FUNCTION	ADP/ATP translocase, oxidative phosphorylation (OXPHOS), catalyzing the exchange of ADP and ATP across the mitochondrial inner membrane
	playing an important role in maintaining the cytosolic phosphorylation potential required for cell growth
	linked to the rate of glycolytic metabolism, is an important indicator of carcinogenesis
	not pro-apoptotic and may therefore contribute to carcinogenesis
	SLC25A5 interacts with Fe-S apoproteins and MMS19 in the cytosolic Fe-S cluster assembly (CIA) complex but not with the individual proteins
	is involved in memory formation or establishment, which could add mitochondrial processes to the wide array of pathways that regulate normal cognitive functions
	is growth-regulated and is upregulated in highly glycolytic and proliferative cells
	is an oncogenic mitochondrial membrane-associated protein

CELLULAR PROCESS	cell cycle, progression

PHYSIOLOGICAL PROCESS

mitochondrial transport

text	energy transfer

PATHWAY

metabolism

energetic , metal

signaling

a component

complexing with cyclophilin D (PPID and PPIF) at the inner mitochondrial membrane and voltage dependent anion selective channel(s) at the outer membrane, to form the mitochondrial permeability transition pore

INTERACTION

DNA

RNA

small molecule

protein	NF1 (nuclear factor 1) binds to two upstream elements of SLC25A5 promoter and actively represses expression of the gene in growth-arrested diploid skin fibroblasts
	interacts with Fe-S apoproteins and MMS19 in the cytosolic Fe-S cluster assembly complex but not with the individual proteins
	ability of SIRT4 to regulate ATP levels via SLC25A5 and a feedback loop involving AMPK

cell & other

REGULATION

repressed by

nuclear factor-1 in growth-arrested human diploid cells

ASSOCIATED DISORDERS

corresponding disease(s)

HARTS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in patients with non-syndromic ntellectual disability (ID) plus some additional features constitutional     --low   caused anemia in a cell-autonomous manner by maturation arrest of erythroid precursors with increased reactive oxygen species and premature deaths constitutional     --over   overexpression of SLC25A5 promoted cell growth and glycolysis

Susceptibility

Variant & Polymorphism

Candidate gene	candidate for cancer therapy based on molecular targeting
Marker
Therapy target
	System Type Disorder Pubmed cancer lung   and that SLC25A5 targeting may be considered a novel strategy for overcoming EGFR-TKI resistance in Non-Small Cell Lung Cancer (PMID: 26883272)

ANIMAL & CELL MODELS