ABCB7

ABCB7
Identifiers
Aliases	ABCB7, AA517758, AU019072, Abc7, ASAT, Atm1p, EST140535, ATP binding cassette subfamily B member 7
External IDs	OMIM: 300135; MGI: 109533; HomoloGene: 3175; GeneCards: ABCB7; OMA:ABCB7 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	75,156,732 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	103,457,462 bp
RNA expression pattern
	Top expressed in
	muscle of arm; ; biceps brachii; ; glutes; ; triceps brachii muscle; ; gastrocnemius muscle; ; Skeletal muscle tissue of biceps brachii; ; monocyte; ; left ventricle; ; muscle of thigh; ; jejunal mucosa;
	Top expressed in
	digastric muscle; ; triceps brachii muscle; ; temporal muscle; ; sternocleidomastoid muscle; ; vastus lateralis muscle; ; tibialis anterior muscle; ; right ventricle; ; knee joint; ; soleus muscle; ; extraocular muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; heme transmembrane transporter activity; ATPase activity; ATPase-coupled transmembrane transporter activity; ATP binding;
Cellular component	membrane; mitochondrial inner membrane; mitochondrion; integral component of membrane;
Biological process	transmembrane transport; cellular iron ion homeostasis; heme transport;
	Sources:Amigo / QuickGO
Orthologs
	22
	11306
	ENSG00000131269
	ENSMUSG00000031333
	O75027
	Q61102
	NM_004299; NM_001271696; NM_001271697; NM_001271698; NM_001271699
	NM_009592
NP_001258625; NP_001258626; NP_001258627; NP_001258628; NP_004290;
	NP_001258627.1
	NP_033722
	Wikidata
View/Edit Human	View/Edit Mouse

ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.^[5]^[6]

Function

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis.

Clinical significance

Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.^[6]

Interactions

ABCB7 has been shown to interact with Ferrochelatase.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131269 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031333 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (July 1997). "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics. 41 (2): 275–8. doi:10.1006/geno.1997.4658. PMID 9143506.
^ ^a ^b "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7".
^ Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (April 2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood. 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705. S2CID 18599174.

External links

GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia
ABCB7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
ABCB7 human gene location in the UCSC Genome Browser.
ABCB7 human gene details in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000131269 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031333 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9143506-5] Savary S, Allikmets R, Denizot F, Luciani MF, Mattei MG, Dean M, Chimini G (July 1997). "Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human". Genomics. 41 (2): 275–8. doi:10.1006/geno.1997.4658. PMID 9143506.

[entrez-6] "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7".

[pmid12480705-7] Taketani S, Kakimoto K, Ueta H, Masaki R, Furukawa T (April 2003). "Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase". Blood. 101 (8): 3274–80. doi:10.1182/blood-2002-04-1212. PMID 12480705. S2CID 18599174.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

v t e Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1)
A	A1 A2 A3 A4 A7 A8 A12 A13
B	B1 B2-3 (B2 B3) B4 B5 B6 B7 B9 B11
C	C1 C2 C3 C4 C5 C6 C7 C8-9 (C8, C9) C10 C11 C13
D	D1 D2 D3 D4
E	E1
F	F1 F2
G	G1 G2 G4 Sterolin (G5, G8)
see also ABC transporter disorders