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
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_033722

Location (UCSC)Chr X: 75.05 – 75.16 MbChr X: 103.32 – 103.46 Mb
PubMed search[3][4]
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.[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]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131269 – Ensembl, May 2017
  2. ^ a b c 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.
  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. ^ a b "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)
Categories