{ "uniprot_canonical_ac": "O75027-1", "uniprot_ac": "O75027", "uniprot_id": "ABCB7_HUMAN", "mass": { "chemical_mass": 82641.0, "monoisotopic_mass": 82641.0 }, "refseq": { "ac": "NP_001258625", "name": "iron-sulfur clusters transporter ABCB7, mitochondrial isoform 2", "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" }, "gene_names": [ { "name": "ABCB7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75027", "id": "O75027" }, { "name": "ABC7; ASAT; Atm1p; EST140535", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625", "id": "NP_001258625" }, { "name": "ABC7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75027", "id": "O75027" }, { "name": "ABCB7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625", "id": "NP_001258625" } ], "protein_names": [ { "name": "Iron-sulfur clusters transporter ABCB7, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75027" }, { "name": "ABC transporter 7 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75027" }, { "name": "ATP-binding cassette sub-family B member 7, mitochondrial; ABC transporter 7 protein; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; iron-sulfur clusters transporter ABCB7, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625", "id": "NP_001258625" }, { "name": "ATP-binding cassette sub-family B member 7, mitochondrial", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75027" }, { "name": "ATP-binding cassette transporter 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75027" }, { "name": "iron-sulfur clusters transporter ABCB7, mitochondrial isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625", "id": "NP_001258625" } ], "function": [ { "annotation": "ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1alpha-driven NFkappaB signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" }, { "database": "PubMed", "id": "31772327", "url": "https://glygen.org/publication/PubMed/31772327" } ] }, { "annotation": "Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" }, { "database": "PubMed", "id": "34861039", "url": "https://glygen.org/publication/PubMed/34861039" } ] }, { "annotation": "Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" }, { "database": "PubMed", "id": "33157103", "url": "https://glygen.org/publication/PubMed/33157103" } ] }, { "annotation": "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:33157103, PubMed:17192393, PubMed:10196363). 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).", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027#function" }, { "database": "UniProtKB", "id": "Q704E8", "url": "https://www.uniprot.org/uniprot/Q704E8#function" }, { "database": "PubMed", "id": "10196363", "url": "https://glygen.org/publication/PubMed/10196363" }, { "database": "PubMed", "id": "30765471", "url": "https://glygen.org/publication/PubMed/30765471" }, { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprot/Q61102#function" }, { "database": "PubMed", "id": "17192393", "url": "https://glygen.org/publication/PubMed/17192393" }, { "database": "PubMed", "id": "33157103", "url": "https://glygen.org/publication/PubMed/33157103" } ] }, { "annotation": "Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" }, { "database": "PubMed", "id": "33689857", "url": "https://glygen.org/publication/PubMed/33689857" } ] }, { "annotation": "Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-beta/Smad signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" }, { "database": "PubMed", "id": "37142077", "url": "https://glygen.org/publication/PubMed/37142077" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" } ] } ], "disease": [ { "disease_id": "DOID:0050554", "recommended_name": { "id": "DOID:0050554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050554", "name": "X-linked sideroblastic anemia with ataxia", "description": "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene." }, "synonyms": [ { "id": "DOID:0050554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050554", "name": "Anemia, sideroblastic, spinocerebellar ataxia", "description": "" }, { "id": "DOID:0050554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050554", "name": "Anemia sideroblastic and spinocerebellar ataxia", "description": "" }, { "id": "DOID:0050554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050554", "name": "X-linked sideroblastic anaemia and ataxia", "description": "" }, { "id": "DOID:0050554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050554", "name": "X-linked sideroblastic anaemia with ataxia", "description": "" }, { "id": "DOID:0050554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050554", "name": "X-linked sideroblastic anemia and ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anemia with ataxia", "description": "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "ASAT", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "Pagon-Bird-Detter syndrome", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anaemia and ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anaemia with spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anemia and ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anemia with ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anemia with spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "XLSA-A", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "anaemia sideroblastic and spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "anemia sideroblastic and spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "anemia, sideroblastic, with ataxia, X-linked recessive", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "sideroblastic anaemia with spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "sideroblastic anemia with spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "Pagon Bird Detter syndrome", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic Anaemia and ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic Anemia and ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anaemia and spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "X-linked sideroblastic anemia and spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "Xlsa-A", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "anemia, Sex-linked hypochromic Siderobla", "description": "" }, { "id": "MONDO:0010524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010524", "name": "anemia, sideroblastic, and spinocerebellar ataxia", "description": "" }, { "id": "MIM:301310", "resource": "MIM", "url": "https://www.omim.org/entry/301310", "name": "Anemia, sideroblastic, spinocerebellar ataxia", "description": "Anemia, sideroblastic, spinocerebellar ataxia" } ], "evidence": [ { "id": "301310", "database": "MIM", "url": "https://www.omim.org/entry/301310" } ] } ], "snv": [ { "evidence": [ { "id": "O75027", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75027" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 350, "end_pos": 350, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NER->NET).", "chr_id": "X", "chr_pos": "75071667", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R350", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs866224748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866224748" }, { "id": "rs866224748", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866224748" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 444, "end_pos": 444, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTL->NTS).", "chr_id": "X", "chr_pos": "75070399", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L444", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs750001347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750001347" }, { "id": "rs750001347", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750001347" }, { "id": "rs750001347", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750001347" } ], "glycoeffect": [ 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZA98-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZA98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DGL8", "url": "https://www.uniprot.org/uniprot/B4DGL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DGL8-1", "url": "https://www.uniprot.org/uniprot/B4DGL8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJR8", "url": "https://www.uniprot.org/uniprot/E9PJR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJR8-1", "url": "https://www.uniprot.org/uniprot/E9PJR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNQ5", "url": "https://www.uniprot.org/uniprot/E9PNQ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNQ5-1", "url": "https://www.uniprot.org/uniprot/E9PNQ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75027-1", "url": "https://www.uniprot.org/uniprot/O75027-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75027-2", "url": "https://www.uniprot.org/uniprot/O75027-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75027-3", "url": "https://www.uniprot.org/uniprot/O75027-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC", "length": 752, "header": "sp|O75027-1|ABCB7_HUMAN Isoform 1 of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=2 CANONICAL=O75027-1" }, "isoforms": [ { "isoform_ac": "A0A087WW65-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC", "length": 713, "header": "tr|A0A087WW65-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75053373, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620875.5", "url": "https://www.ensembl.org/id/ENST00000620875.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000479985.1", "url": "https://www.ensembl.org/id/ENSP00000479985.1" } ] } }, { "isoform_ac": "A0A2R8Y3N2-1", "url": "", "sequence": { "sequence": "XSLKMALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKSVQI", "length": 159, "header": "tr|A0A2R8Y3N2-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156282, "end_pos": 75097525, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643632.1", "url": "https://www.ensembl.org/id/ENST00000643632.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493617.1", "url": "https://www.ensembl.org/id/ENSP00000493617.1" } ] } }, { "isoform_ac": "A0A2R8Y473-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEEIVNSG", "length": 651, "header": "tr|A0A2R8Y473-1|A0A2R8Y473_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75060254, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644766.1", "url": "https://www.ensembl.org/id/ENST00000644766.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493713.1", "url": "https://www.ensembl.org/id/ENSP00000493713.1" } ] } }, { "isoform_ac": "A0A2R8YF35-1", "url": "", "sequence": { "sequence": "YTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKLFLYIL", "length": 47, "header": "tr|A0A2R8YF35-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75073902, "end_pos": 75071687, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534570.5", "url": "https://www.ensembl.org/id/ENST00000534570.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000494779.1", "url": "https://www.ensembl.org/id/ENSP00000494779.1" } ] } }, { "isoform_ac": "A0A590UJS8-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC", "length": 693, "header": "tr|A0A590UJS8-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75053373, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000669573.1", "url": "https://www.ensembl.org/id/ENST00000669573.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499543.1", "url": "https://www.ensembl.org/id/ENSP00000499543.1" } ] } }, { "isoform_ac": "A0A5F9ZA98-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQQIPESLKSITWQRLGKGNSGQFLDAAKMNKKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC", "length": 757, "header": "tr|A0A5F9ZA98-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75053373, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645829.3", "url": "https://www.ensembl.org/id/ENST00000645829.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000496526.2", "url": "https://www.ensembl.org/id/ENSP00000496526.2" } ] } }, { "isoform_ac": "B4DGL8-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENIS", "length": 702, "header": "tr|B4DGL8-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75053445, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529949.5", "url": "https://www.ensembl.org/id/ENST00000529949.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436586.1", "url": "https://www.ensembl.org/id/ENSP00000436586.1" } ] } }, { "isoform_ac": "E9PJR8-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLS", "length": 188, "header": "tr|E9PJR8-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=1 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75075488, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534524.5", "url": "https://www.ensembl.org/id/ENST00000534524.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435521.1", "url": "https://www.ensembl.org/id/ENSP00000435521.1" } ] } }, { "isoform_ac": "E9PNQ5-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVP", "length": 159, "header": "tr|E9PNQ5-1|ABCB7_HUMAN Computationally mapped isoform of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=2 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75076634, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526404.2", "url": "https://www.ensembl.org/id/ENST00000526404.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000432813.2", "url": "https://www.ensembl.org/id/ENSP00000432813.2" } ] } }, { "isoform_ac": "O75027-1", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC", "length": 752, "header": "sp|O75027-1|ABCB7_HUMAN Isoform 1 of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=2 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75053373, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373394.8", "url": "https://www.ensembl.org/id/ENST00000373394.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000362492.3", "url": "https://www.ensembl.org/id/ENSP00000362492.3" } ] } }, { "isoform_ac": "O75027-2", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC", "length": 753, "header": "sp|O75027-2|ABCB7_HUMAN Isoform 2 of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=2 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75053373, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000253577.9", "url": "https://www.ensembl.org/id/ENST00000253577.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000253577.3", "url": "https://www.ensembl.org/id/ENSP00000253577.3" } ] } }, { "isoform_ac": "O75027-3", "url": "", "sequence": { "sequence": "MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC", "length": 712, "header": "sp|O75027-3|ABCB7_HUMAN Isoform 3 of Iron-sulfur clusters transporter ABCB7, mitochondrial OS=Homo sapiens OX=9606 GN=ABCB7 PE=1 SV=2 CANONICAL=O75027-1" }, "locus": { "chromosome": "X", "start_pos": 75156272, "end_pos": 75053373, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000339447.8", "url": "https://www.ensembl.org/id/ENST00000339447.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000343849.4", "url": "https://www.ensembl.org/id/ENSP00000343849.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 461, "start_aa": "Ser", "end_pos": 461, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser461", "evidence": [ { "id": "O75027", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75027" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75027", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75027" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 466, "start_aa": "Thr", "end_pos": 466, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr466", "evidence": [ { "id": "O75027", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75027" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75027", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75027" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 509, "start_aa": "Ser", "end_pos": 509, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser509", "evidence": [ { "id": "O75027", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75027" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75027", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75027" } ] } ], "phosphorylation": [ { "start_pos": 336, "end_pos": 336, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "site_lbl": "Ser336" }, { "start_pos": 340, "end_pos": 340, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "site_lbl": "Tyr340" }, { "start_pos": 342, "end_pos": 342, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "site_lbl": "Thr342" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).", "journal": "Human molecular genetics", "date": "1999", "authors": "Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" }, { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "10196363", "url": "https://glygen.org/publication/PubMed/10196363" } ] }, { "title": "MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Mitsuhashi N, Miki T, Senbongi H, Yokoi N, Yano H, Miyazaki M, Nakajima N, Iwanaga T, Yokoyama Y, Shibata T, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "10837493", "url": "https://glygen.org/publication/PubMed/10837493" } ] }, { "title": "M-ABC2, a new human mitochondrial ATP-binding cassette membrane protein.", "journal": "FEBS letters", "date": "2000", "authors": "Zhang F, Hogue DL, Liu L, Fisher CL, Hui D, Childs S, Ling V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "10922475", "url": "https://glygen.org/publication/PubMed/10922475" } ] }, { "title": "Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.", "journal": "Blood", "date": "2000", "authors": "Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "11050011", "url": "https://glygen.org/publication/PubMed/11050011" } ] }, { "title": "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.", "journal": "British journal of haematology", "date": "2001", "authors": "Maguire A, Hellier K, Hammans S, May A", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "11843825", "url": "https://glygen.org/publication/PubMed/11843825" } ] }, { "title": "Stable dimeric assembly of the second membrane-spanning domain of CFTR (cystic fibrosis transmembrane conductance regulator) reconstitutes a chloride-selective pore.", "journal": "The Biochemical journal", "date": "2003", "authors": "Ramjeesingh M, Ugwu F, Li C, Dhani S, Huan LJ, Wang Y, Bear CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "12892562", "url": "https://glygen.org/publication/PubMed/12892562" } ] }, { "title": "Targeting, import, and dimerization of a mammalian mitochondrial ATP binding cassette (ABC) transporter, ABCB10 (ABC-me).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Graf SA, Haigh SE, Corson ED, Shirihai OS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "15215243", "url": "https://glygen.org/publication/PubMed/15215243" } ] }, { "title": "The mitochondrial ABC transporter Atm1p functions as a homodimer.", "journal": "FEBS letters", "date": "2004", "authors": "Chloupkova M, Reaves SK, LeBard LM, Koeller DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "15225610", "url": "https://glygen.org/publication/PubMed/15225610" } ] }, { "title": "Identification of a mammalian mitochondrial porphyrin transporter.", "journal": "Nature", "date": "2006", "authors": "Krishnamurthy PC, Du G, Fukuda Y, Sun D, Sampath J, Mercer KE, Wang J, Sosa-Pineda B, Murti KG, Schuetz JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "17006453", "url": "https://glygen.org/publication/PubMed/17006453" } ] }, { "title": "RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.", "journal": "Blood", "date": "2007-04-15", "authors": "Cavadini Patrizia, Biasiotto Giorgio, Poli Maura, Levi Sonia, Verardi Rosanna, Zanella Isabella, Derosas Manuela, Ingrassia Rosaria, Corrado Marcella, Arosio Paolo", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "17192393", "url": "https://glygen.org/publication/PubMed/17192393" } ] }, { "title": "Human Nbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasis.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Stehling O, Netz DJ, Niggemeyer B, Rosser R, Eisenstein RS, Puccio H, Pierik AJ, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "18573874", "url": "https://glygen.org/publication/PubMed/18573874" } ] }, { "title": "Dre2, a conserved eukaryotic Fe/S cluster protein, functions in cytosolic Fe/S protein biogenesis.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Zhang Y, Lyver ER, Nakamaru-Ogiso E, Yoon H, Amutha B, Lee DW, Bi E, Ohnishi T, Daldal F, Pain D, Dancis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "18625724", "url": "https://glygen.org/publication/PubMed/18625724" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Tah18 transfers electrons to Dre2 in cytosolic iron-sulfur protein biogenesis.", "journal": "Nature chemical biology", "date": "2010", "authors": "Netz DJ, Stumpfig M, Dore C, Muhlenhoff U, Pierik AJ, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "20802492", "url": "https://glygen.org/publication/PubMed/20802492" } ] }, { "title": "X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.", "journal": "European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society", "date": "2012", "authors": "D'Hooghe M, Selleslag D, Mortier G, Van Coster R, Vermeersch P, Billiet J, Bekri S", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "22398176", "url": "https://glygen.org/publication/PubMed/22398176" } ] }, { "title": "MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Gari K, Leon Ortiz AM, Borel V, Flynn H, Skehel JM, Boulton SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "22678361", "url": "https://glygen.org/publication/PubMed/22678361" } ] }, { "title": "MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Stehling O, Vashisht AA, Mascarenhas J, Jonsson ZO, Sharma T, Netz DJ, Pierik AJ, Wohlschlegel JA, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "22678362", "url": "https://glygen.org/publication/PubMed/22678362" } ] }, { "title": "The mammalian proteins MMS19, MIP18, and ANT2 are involved in cytoplasmic iron-sulfur cluster protein assembly.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "van Wietmarschen N, Moradian A, Morin GB, Lansdorp PM, Uringa EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "23150669", "url": "https://glygen.org/publication/PubMed/23150669" } ] }, { "title": "PAAT, a novel ATPase and trans-regulator of mitochondrial ABC transporters, is critically involved in the maintenance of mitochondrial homeostasis.", "journal": "FASEB J.", "date": "2014", "authors": "Yang X, Yang J, Li L, Sun L, Yi X, Han X, Si W, Yan R, Chen Z, Xie G, Li W, Shang Y, Liang J", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "25063848", "url": "https://glygen.org/publication/PubMed/25063848" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75027" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75027" }, { "database": "O-GlcNAc Atlas", "id": "O75027", "url": "https://oglcnac.org/atlas/detail/O75027" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75027", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75027" }, { "database": "O-GlcNAc Atlas", "id": "O75027", "url": "https://oglcnac.org/atlas/detail/O75027" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.", "journal": "Haematologica", "date": "2019", "authors": "Maio N, Kim KS, Holmes-Hampton G, Singh A, Rouault TA", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "30765471", "url": "https://glygen.org/publication/PubMed/30765471" } ] }, { "title": "ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1alpha-driven NFkappaB signaling.", "journal": "Oncogene", "date": "2020", "authors": "Kim JY, Kim JK, Kim H", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" } ], "reference": [ { "type": "PubMed", "id": "31772327", "url": "https://glygen.org/publication/PubMed/31772327" } ] }, { "title": "Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.", "journal": "Archives of biochemistry and biophysics", "date": "2021", "authors": "Pearson SA, Cowan JA", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" }, { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" } ], "reference": [ { "type": "PubMed", "id": "33157103", "url": "https://glygen.org/publication/PubMed/33157103" } ] }, { "title": "Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.", "journal": "Protein expression and purification", "date": "2021", "authors": "Nie Z, Yan Q, Shen Y, Yang X", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" } ], "reference": [ { "type": "PubMed", "id": "33689857", "url": "https://glygen.org/publication/PubMed/33689857" } ] }, { "title": "Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.", "journal": "Blood", "date": "2022", "authors": "Clough CA, Pangallo J, Sarchi M, Ilagan JO, North K, Bergantinos R, Stolla MC, Naru J, Nugent P, Kim E, Stirewalt DL, Subramaniam AR, Abdel-Wahab O, Abkowitz JL, Bradley RK, Doulatov S", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" } ], "reference": [ { "type": "PubMed", "id": "34861039", "url": "https://glygen.org/publication/PubMed/34861039" } ] }, { "title": "Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-\u03b2/Smad signaling.", "journal": "Archives of biochemistry and biophysics", "date": "2023-05-02", "authors": "Feng Shiyun, Jia Jiabao, Lv Guangchao, Wang Yue", "evidence": [ { "database": "RefSeq", "id": "NP_001258625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258625" } ], "reference": [ { "type": "PubMed", "id": "37142077", "url": "https://glygen.org/publication/PubMed/37142077" } ] }, { "title": "Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.", "journal": "J. Hum. Genet.", "date": "1998", "authors": "Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, Suzuki M, Omori Y, Nishino N, Kanemoto N, Fujiwara T, Horie M, Takahashi E", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "9621516", "url": "https://glygen.org/publication/PubMed/9621516" } ] }, { "title": "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Mao M, Fu G, Wu J S, Zhang Q H, Zhou J, Kan L X, Huang Q H, He K L, Gu B W, Han Z G, Shen Y, Gu J, Yu Y P, Xu S H, Wang Y X, Chen S J, Chen Z", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "reference": [ { "type": "PubMed", "id": "9653160", "url": "https://glygen.org/publication/PubMed/9653160" } ] }, { "title": "Identification and characterization of a mammalian mitochondrial ATP-binding cassette membrane protein.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Hogue DL, Liu L, Ling V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "9878413", "url": "https://glygen.org/publication/PubMed/9878413" } ] }, { "title": "Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p.", "journal": "FEBS Lett.", "date": "1998", "authors": "Csere P, Lill R, Kispal G", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" }, { "database": "Reactome", "id": "R-HSA-1369007", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007" } ], "reference": [ { "type": "PubMed", "id": "9883897", "url": "https://glygen.org/publication/PubMed/9883897" } ] } ], "pathway": [ { "id": "hsa:22", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22", "resource": "KEGG Pathway" }, { "id": "R-HSA-1369007", "name": "Mitochondrial ABC transporters", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1369007", "resource": "Reactome", "description": "Mitochondrial ABC transporters" }, { "id": "R-HSA-2564830", "name": "Cytosolic iron-sulfur cluster assembly", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830", "resource": "Reactome", "description": "Cytosolic iron-sulfur cluster assembly" } ], "orthologs": [ { "uniprot_canonical_ac": "P40416-1", "protein_name": "Iron-sulfur clusters transporter ATM1, mitochondrial", "gene_name": "ATM1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MLLLPRCPVIGRIVRSKFRSGLIRNHSPVIFTVSKLSTQRPLLFNSAVNLWNQAQKDITHKKSVEQFSSAPKVKTQVKKTSKAPTLSELKILKDLFRYIWPKGNNKVRIRVLIALGLLISAKILNVQVPFFFKQTIDSMNIAWDDPTVALPAAIGLTILCYGVARFGSVLFGELRNAVFAKVAQNAIRTVSLQTFQHLMKLDLGWHLSRQTGGLTRAMDRGTKGISQVLTAMVFHIIPISFEISVVCGILTYQFGASFAAITFSTMLLYSIFTIKTTAWRTHFRRDANKADNKAASVALDSLINFEAVKYFNNEKYLADKYNGSLMNYRDSQIKVSQSLAFLNSGQNLIFTTALTAMMYMGCTGVIGGNLTVGDLVLINQLVFQLSVPLNFLGSVYRDLKQSLIDMETLFKLRKNEVKIKNAERPLMLPENVPYDITFENVTFGYHPDRKILKNASFTIPAGWKTAIVGSSGSGKSTILKLVFRFYDPESGRILINGRDIKEYDIDALRKVIGVVPQDTPLFNDTIWENVKFGRIDATDEEVITVVEKAQLAPLIKKLPQGFDTIVGERGLMISGGEKQRLAIARVLLKNARIMFFDEATSALDTHTEQALLRTIRDNFTSGSRTSVYIAHRLRTIADADKIIVLDNGRVREEGKHLELLAMPGSLYRELWTIQEDLDHLENELKDQQEL", "length": 690 }, "evidence": [ { "id": "O75027", "url": "https://omabrowser.org/oma/group/O75027/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q61102-1", "protein_name": "Iron-sulfur clusters transporter ABCB7, mitochondrial", "gene_name": "Abcb7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALLAIHSWRWAAAAVAFEKHKHSAVLTRALVSMCGSGPRWSSSQRGASGSARLSQTTESLRNTTQQRWGKDNSRQLLDATKALQTWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPEDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIVFEMMLVSSVLYYKCGAQFALVTLGTLGAYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNEKYEAQRYDGFLKTYETASLKSTSTLAMLNFGQNAIFSVGLTAIMVLASQGIVAGALTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTRIKDKVMAPPLQITPQTATVAFDNVHFEYIEGQKVLNGVSFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNLQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNINASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKNPPVILYDEATSSLDSITEETILGAMRDVVKHRTSIFIAHRLSTVVDADEIIVLSQGKVAERGTHYGLLANSSSIYSEMWHTQSNRVQNQDSLGWDAKKESLSKEEERKKLQEEIVNSVKGCGNCSC", "length": 752 }, "evidence": [ { "id": "45926233", "url": "http://www.informatics.jax.org/homology/45926233", "database": "MGI" }, { "id": "O75027", "url": "https://omabrowser.org/oma/group/O75027/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q704E8-1", "protein_name": "Iron-sulfur clusters transporter ABCB7, mitochondrial", "gene_name": "Abcb7", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALLAIHSWRWAAAAVAFEKHKHSAVLTRSLVSICGSGLRWSSYQSGASGSARLSQTTESLRNSTQQRWEKNNSRQLLDASKVLQAWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIVFEMTLVSSVLYYKCGAQFALVTLGTLGAYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNEKYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGALTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTRIKDKAMASPLQITPQTATVAFDNVHFEYIEGQKVLSGVSFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNINASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMRDVVKHRTSIFIAHRLSTVVDADEIIVLSQGKVAERGTHYGLLANSSSIYSEMWHTQSTRIQNHDNLGWDAKKESLSKEEERKKLQEEIVNSVKGCGNCSC", "length": 752 }, "evidence": [ { "id": "45926233", "url": "http://www.informatics.jax.org/homology/45926233", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9W0C5-1", "protein_name": "Iron-sulfur clusters transporter ABCB7, mitochondrial", "gene_name": "ABCB7", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAGLLHLTKQCSIHLPAHLGRAKCYTLAKGPGTHVQARVLYSSLTKVDDKNSSDAKRKKITPFTPTPGSKLLGGVFGKKAKGGAPAAAAAKTTTLQRQRPYRPQQQQSRLCHVHIGGGSDGGSGLGKLDAPEVTSKDMLRAMMAYIWPKEDPLVRKRVGISLGLLAGSKLLTVCVPFLFKGAVDTMTTLNMDTAPDAVLSAATALMLGYGIARASAAGFNELRNAVFAKVAHHSIRKIASNVFLHLHNLDLAFHLNKQTGALSKTIDRGSRGINFVLSAMVFNIVPTIFELALVSSILGVKCGLAFAGVSMGCVGIYAAYTLSVTQWRTQFRVFMNQAENEAGNKAVDSLINYETVKYFNNEKYEAGCYNEVLKKYEAASLKTSSSLALLNFGQNAIFSSALSLIMVLAAKEIAQGNMTVGDLVMVNALLFQLSIPLGFLGSVYREVRQALLDMRAMFTLMNVDSSIQTAANAQPLFVDTTNSSIEFRNVSFEYEPGKPIFRDLSFTIPAGKNVAIVGGSGSGKSSMVRLLFRFFEPNSGKVLIGGQDISAVDLESLRKVIAVVPQDSVLFHNTIEHNIHYGNLSKSHAEVQNAARMADLHDSIMSWPGQYSTQVGERGLKLSGGEKQRVAIARAILKNTPILIFDEATSSLDSITEHNILQALTRATSGRTSICIAHRLSTVKDADEILVLENGRVGERGTHSELLRQNGLYARLWETQTQQFDPSREINEEVAAKKTRGVA", "length": 743 }, "evidence": [ { "id": "O75027", "url": "https://omabrowser.org/oma/group/O75027/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "heme transmembrane transporter activity", "id": "GO:0015232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015232", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "ABC-type iron-sulfur cluster transporter activity", "id": "GO:0140481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140481", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "iron-sulfur cluster assembly", "id": "GO:0016226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016226", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "iron ion transmembrane transport", "id": "GO:0034755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034755", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "iron-sulfur cluster export from the mitochondrion", "id": "GO:0140466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140466", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "positive regulation of heme biosynthetic process", "id": "GO:0070455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070455", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" }, { "name": "positive regulation of iron-sulfur cluster assembly", "id": "GO:1903331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903331", "evidence": [ { "database": "UniProtKB", "id": "O75027", "url": "https://www.uniprot.org/uniprot/O75027" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 177, "end_pos": 179, "annotation": "n_glycosylation_sequon" }, { "start_pos": 570, "end_pos": 572, "annotation": "n_glycosylation_sequon" }, { "start_pos": 726, "end_pos": 728, "annotation": "n_glycosylation_sequon" }, { "start_pos": 749, "end_pos": 751, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], 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