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Details on Person UniProt:O75027-3 ABCB7
| Class:Id | ReferenceIsoform:8973151 |
|---|---|
| _chainChangeLog | transit peptide:1-22 added on Fri February 17 2017;chain:23-752 added on Fri February 17 2017 |
| _displayName | UniProt:O75027-3 ABCB7 |
| _timestamp | 2025-02-21 19:24:49 |
| chain | transit peptide:1-22 chain:23-752 |
| checksum | B1FFA57ABD24FB90 |
| comment | FUNCTION Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and participates in iron homeostasis (PubMed:10196363, PubMed:17192393, PubMed:33157103). Moreover, through a functional complex formed of ABCB7, FECH and ABCB10, also plays a role in the cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471). In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1 (By similarity). May also play a role in hematopoiesis (By similarity).CATALYTIC ACTIVITY (glutathione)4[2Fe(III)-2S] cluster(in) + ATP + H2O = (glutathione)4[2Fe(III)-2S] cluster(out) + ADP + phosphate + H(+)ACTIVITY REGULATION ATPase activity is stimulated by glutathione.BIOPHYSICOCHEMICAL PROPERTIES Homodimer or heterodimer (PubMed:30765471). Interacts with C10orf88/PAAT (PubMed:25063848). Forms a complex with ABCB10 and FECH, where a dimeric FECH bridges ABCB7 and ABCB10 homodimers; this complex may be required for cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471). Interacts with FECH (PubMed:30765471). Interacts with ATP5F1A (By similarity). Interacts with COX4I1; this interaction allows the regulation of cellular iron homeostasis and cellular reactive oxygen species (ROS) levels in cardiomyocytes (By similarity).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.ONLINE INFORMATION Database for mutations in ABC proteins |
| created | [InstanceEdit:8964659] Weiser, JD |
| description | recommendedName: fullName evidence="20"Iron-sulfur clusters transporter ABCB7, mitochondrial alternativeName: fullName evidence="20"ATP-binding cassette sub-family B member 7, mitochondrial alternativeName: ATP-binding cassette transporter 7 shortName: ABC transporter 7 protein |
| geneName | ABCB7 ABC7 |
| identifier | O75027 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing ATP-binding Disease variant Membrane Mitochondrion Mitochondrion inner membrane Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Transit peptide Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | ABCB7 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962098] ENSEMBL:ENSG00000131269 ABCB7 [Homo sapiens] |
| secondaryIdentifier | ABCB7_HUMAN G3XAC4 O75345 Q5VWY7 Q5VWY8 Q9BRE1 Q9UND1 Q9UP01 |
| sequenceLength | 752 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | O75027-3 |
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No pathways have been reviewed or authored by UniProt:O75027-3 ABCB7 (8973151)
