ID:ABCB7_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family B member 7, mitochondrial; AltName: Full=ATP-binding cassette transporter 7; Short=ABC transporter 7 protein; Flags: Precursor; FUNCTION: Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins. SUBUNIT: Homodimer or heterodimer (Potential). SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein (Potential). DISEASE: Defects in ABCB7 are the cause of X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]. ASAT is a recessive disorder characterized by an infantile to early childhood onset of nonprogressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. SIMILARITY: Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. SIMILARITY: Contains 1 ABC transmembrane type-1 domain. SIMILARITY: Contains 1 ABC transporter domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCB7"; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O75027";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75027
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC006323 - Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7, mRNA (cDNA clone MGC:12887 IMAGE:4138236), complete cds. AB005289 - Homo sapiens mRNA for ABC transporter 7 protein, complete cds. BX537833 - Homo sapiens mRNA; cDNA DKFZp686K20196 (from clone DKFZp686K20196); complete cds. AF038950 - Homo sapiens ATP binding cassette transporter mRNA, complete cds. AF078777 - Homo sapiens ABC transporter (ATM1) mRNA, partial cds; nuclear gene for mitochondrial product. AF133659 - Homo sapiens ATP-binding cassette 7 iron transporter (ABC7) mRNA, complete cds; nuclear gene for mitochondrial product. BT009918 - Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 mRNA, complete cds. DQ890692 - Synthetic construct clone IMAGE:100003322; FLH165176.01X; RZPDo839G11158D ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7) gene, encodes complete protein. EU176476 - Synthetic construct Homo sapiens clone IMAGE:100011340; FLH165175.01L; RZPDo839E01253D ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7) gene, encodes complete protein. KU177872 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 1 (ABCB7) mRNA, partial cds. KU177873 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 3 (ABCB7) mRNA, complete cds, alternatively spliced. KU177874 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 4 (ABCB7) mRNA, partial cds, alternatively spliced. KU177875 - Homo sapiens ATP-binding cassette sub-family B member 7 isoform 5 (ABCB7) mRNA, complete cds, alternatively spliced. AK294657 - Homo sapiens cDNA FLJ53391 partial cds, highly similar to ATP-binding cassette sub-family B member 7, mitochondrial precursor. AK307414 - Homo sapiens cDNA, FLJ97362. AK001418 - Homo sapiens cDNA FLJ10556 fis, clone NT2RP2002479, highly similar to ATP-binding cassette sub-family B member 7, mitochondrial precursor. CU675349 - Synthetic construct Homo sapiens gateway clone IMAGE:100020541 5' read ABCB7 mRNA. U66679 - Homo sapiens clone EST140535 mRNA sequence.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O75027 (Reactome details) participates in the following event(s):
R-HSA-382560 ABC7, mABC1 and mABC2 mediate heme transport R-HSA-1369007 Mitochondrial ABC transporters R-HSA-382556 ABC-family proteins mediated transport R-HSA-382551 Transport of small molecules
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
