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FLASH GENE

Symbol

ABCB7

contributors: mct/npt - updated : 21-03-2019

HGNC name	ATP-binding cassette, sub-family B (MDR/TAP), member 7
HGNC id	48

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ASAT anemia, sideroblastic, and spinocerebellar ataxia
Location	Xq13.3      Physical location : 74.273.106 - 74.376.132
Synonym name	multidrug resistance 5
	ABC transporter 7 protein
Synonym symbol(s)	MDR5, ABC7, ATM1P, MOAT-C, EST140535, ASAT

DNA

TYPE	functioning gene
STRUCTURE	103.03 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - DXS56 - ATRX ATRX - ATP7A - PGK1 - DXS7497 - GPR23 - DXS1225 - DXS1105 - DXS566 - DXS447 - DXS1197 - DXS986 - VDAC1P - ABCB7 - DXS72 - SH3BGRL - DXS169 - DXS26 - DXS995 - POU3F4 - DXS232 - qter
Authors	Villard (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004299 16 - 2404 NP_004290 82.64 753 - 2005 15772651

EXPRESSION

Type	ubiquitous

constitutive of

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 Cardiovascular heart         Digestive liver         Respiratory lung

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one ATP binding site
	one transmembrane domains (6 segments) (half-type ATP binding cassette), constituent of mitochondria (the N terminus containing the information for targeting and import into the organelle)

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies	homolog to murine Abc7
	homolog to yeast Atm1p

Homologene

FAMILY	ATP binding cassette superfamily
	subfamily B (MDR/TAP)

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	half-ABC transporter, traffic ATPase, mitochondrial iron transport, involved in iron homeostasis
	export a mitochondrially derived metabolite required for cytosolic Fe-S cluster assembly
	involved in multidrug resistance as well as antigen presentation
	essential for hematopoiesis
	regulates not only the expression of extramitochondrial thioredoxin but also that of an intramitochondrial iron-sulfur-containing protein ferratase
	may be required for mitochondrial iron homeostasis in neural cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	iron homeostasis

PATHWAY

metabolism

signaling

a component

a dimeric ferrochelatase physically bridged ABCB7 and ABCB10 homodimers by binding near the NBDs of each ABC transporter

INTERACTION

DNA

RNA

small molecule

protein

putative interaction between ABCB7 and FECH

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ASAT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in Refractory Anemia with Ring Sideroblasts (RARS)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS