ABCB7
Summary: 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. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ATP binding cassette subfamily B member 7 | MIM:300135 | Ensembl:ENSG00000131269 | HGNC:HGNC:48 | PA24389 | Xq13.3 |
GO terms in ABCB7
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005524 | ATP binding |
| MF | TAS | GO:0015232 | heme transporter activity |
| MF | IEA | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
| BP | IBA | GO:0006879 | cellular iron ion homeostasis |
| BP | IEA | GO:0015886 | heme transport |
| BP | TAS | GO:0055085 | transmembrane transport |
| CC | IBA | GO:0005743 | mitochondrial inner membrane |
| CC | IDA | GO:0005743 | mitochondrial inner membrane |
| CC | TAS | GO:0005743 | mitochondrial inner membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
Gene expression in normal tissue: ABCB7
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABCB7
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa02010 | ABC transporters - Homo sapiens (human) |
| reactome | R-HSA-1369007 | Mitochondrial ABC transporters |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-2564830 | Cytosolic iron-sulfur cluster assembly |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-382556 | ABC-family proteins mediated transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABCB7
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