Entity Details

Primary name ABCB7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75027
EntryNameABCB7_HUMAN
FullNameIron-sulfur clusters transporter ABCB7, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length752
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesABCB7

GO terms

Show/Hide Table
GOName
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006879 cellular iron ion homeostasis
GO:0015232 heme transmembrane transporter activity
GO:0016021 integral component of membrane
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0055085 transmembrane transport

Subcellular Location

Show/Hide Table
Subcellular Location
Mitochondrion inner membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR003439 ABC transporter-like, ATP-binding domainDomainDomain
IPR003593 AAA+ ATPase domainDomainDomain
IPR011527 ABC transporter type 1, transmembrane domainDomainDomain
IPR017871 ABC transporter-like, conserved siteSiteConserved site
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036640 ABC transporter type 1, transmembrane domain superfamilyFamilyHomologous superfamily
IPR039421 Type 1 protein exporterFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
301310 OMIMAnemia, sideroblastic, spinocerebellar ataxia (ASAT)An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
ABCB7_HUMANHEMH_HUMANBioGRID, HPRD12480705 details
ABCB7_HUMANA4_HUMANBioGRID21832049 details
ABCB7_HUMANUBC_HUMANBioGRID28190767 details