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ABCB7

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Protein-coding gene in humans

ABCB7
Identifiers
AliasesABCB7, AA517758, AU019072, Abc7, ASAT, Atm1p, EST140535, ATP binding cassette subfamily B member 7
External IDsOMIM: 300135; MGI: 109533; HomoloGene: 3175; GeneCards: ABCB7; OMA:ABCB7 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)
X chromosome (human)Genomic location for ABCB7Genomic location for ABCB7
BandXq13.3Start75,051,048 bp
End75,156,732 bp
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)
X chromosome (mouse)Genomic location for ABCB7Genomic location for ABCB7
BandX D|X 46.58 cMStart103,324,263 bp
End103,457,462 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

22

11306

Ensembl

ENSG00000131269

ENSMUSG00000031333

UniProt

O75027

Q61102

RefSeq (mRNA)

NM_004299
NM_001271696
NM_001271697
NM_001271698
NM_001271699

NM_009592

RefSeq (protein)
NP_001258625
NP_001258626
NP_001258627
NP_001258628
NP_004290

NP_001258627.1

NP_033722

Location (UCSC)Chr X: 75.05 – 75.16 MbChr X: 103.32 – 103.46 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

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.

Interactions

ABCB7 has been shown to interact with Ferrochelatase.

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000131269Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031333Ensembl, 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.
  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.
  6. ^ "Entrez Gene: ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7".
  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.

Further reading

External links

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

Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1)
A
B
C
D
E
F
G
see also ABC transporter disorders
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