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    ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 [ Homo sapiens ]

    Gene ID: 22, updated on 11-May-2012

    Summary

    Official Symbol
    ABCB7provided by HGNC
    Official Full Name
    ATP-binding cassette, sub-family B (MDR/TAP), member 7provided by HGNC
    Primary source
    HGNC:48
    See related
    Ensembl:ENSG00000131269; HPRD:02137; MIM:300135; Vega:OTTHUMG00000021862
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABC7; ASAT; Atm1p; EST140535
    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 implicated in X-linked sideroblastic anemia with ataxia. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    Xq13.3
    Sequence :
    Chromosome: X; NC_000023.10 (74273105..74376132, complement)
    See ABCB7 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein, cytoplasmic 1 pseudogene 3 Neighboring gene ring finger protein, LIM domain interacting Neighboring gene KIAA2022 Neighboring gene telomeric repeat-binding factor 1-like Neighboring gene uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Phenotypes

    Anemia, sideroblastic, with ataxia

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Sideroblastic anemia and ataxia (XLSA/A) is characterized by moderate anemia and early-onset spinocerebellar syndrome in males manifesting primarily as ataxia, dysmetria, and dysdiadochokinesis. Dysarthria and intention tremor are mild when present. The ataxia has been described to be either non-progressive or slowly progressive. Upper motor neuron (UMN) signs in the legs, manifest by brisk deep tendon reflexes, unsustained ankle clonus, and equivocal or extensor plantar responses, are present in some males. Need for crutches or a wheelchair has been reported. Strabismus is seen in some males. Nystagmus and hypometric saccades may occur. Mild learning disability and depression are seen. The anemia is mild and does not cause symptoms. Carrier females have a normal neurologic examination.
    Diagnosis Testing
    The diagnosis of XLSA/A is made in males by neurologic examination and presence of moderate hypochromic and microcytic anemia, ring sideroblasts on bone marrow examination, and elevated free erythrocyte protoporphyrin levels. Brain MRI shows cerebellar atrophy/hypoplasia. Females may have a dimorphic blood smear with both hypochromic microcytic red blood cells and normal red blood cells; they may have ring sideroblasts on bone marrow examination. Molecular genetic testing of ABCB7, the only gene known to be associated with XLSA/A, is available clinically.
    Genetic Counseling
    XLSA/A is inherited in an X-linked manner. Carrier females have a 50% chance of transmitting the mutation in each pregnancy. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will usually not be affected. Males with XLSA/A will pass the disease-causing mutation to all of their daughters and none of their sons. Carrier testing of at-risk female relatives is possible if the disease-causing mutation in the family is known. Prenatal testing may be available through laboratories offering custom prenatal testing if the disease-causing mutation in the family is known.
    References

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O75027 P22830 FECH    HPRD  PubMed  
    BioGRID:106540 BioGRID:108526 FECH    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106540 BioGRID:109622 ICT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106540 BioGRID:111136 PCK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106540 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    • Homologs of the ABCB7 gene: The ABCB7 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and A.thaliana.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Mitochondrial ABC transporters, organism-specific biosystem (from REACTOME)
      Mitochondrial ABC transporters, organism-specific biosystemMammalian ABC transporters are usually found on the plasma membrane and on organelles such as the ER and peroxisome but a small number are also located on the mitochondria. Here they are thought to p...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heme transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heme transport TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ATP-binding cassette sub-family B member 7, mitochondrial
    Names
    ATP-binding cassette sub-family B member 7, mitochondrial
    ATP-binding cassette 7
    ABC transporter 7 protein
    ATP-binding cassette transporter 7

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007980.1 RefSeqGene

      Range
      5001..108028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004299.3NP_004290.2  ATP-binding cassette sub-family B member 7, mitochondrial

      Status: REVIEWED

      Source sequence(s)
      AF038950, BC006323, BG722908, BQ630948
      Consensus CDS
      CCDS14428.1
      UniProtKB/Swiss-Prot
      O75027
      Related
      ENSP00000253577, OTTHUMP00000023578, ENST00000253577, OTTHUMT00000057273
      Conserved Domains (3) summary
      COG5265
      Location:211706
      Blast Score: 1516
      ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
      cd03253
      Location:473709
      Blast Score: 969
      ABCC_ATM1_transporter; ATM1 is an ABC transporter that is expressed in the mitochondria. Although the specific function of ATM1 is unknown, its disruption results in the accumulation of excess mitochondrial iron, loss of mitochondrial cytochromes, oxidative damage to ...
      cl00549
      Location:141412
      Blast Score: 265
      ABC_membrane; ABC transporter transmembrane region

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      74273105..74376132, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      67906657..68009965, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF241887.1 AAK20173.1
    genomic AL359545.12 CAI41573.1
      CAI41574.1
    genomic AL360179.8 CAH70564.1
      CAH70565.1
    genomic AL590232.3 (100..193) None
    genomic CH471104.2 EAW98632.1
      EAW98633.1
      EAW98634.1
      EAW98635.1
      EAW98636.1
      EAW98637.1
    mRNA AF038950.1 AAC39865.1
    mRNA AF078777.1 AAD47141.1
    mRNA AF133659.1 AAD33045.1
    mRNA AK001418.1 BAG50910.1
    mRNA AK294657.1 BAG57829.1
    mRNA AK307414.1 None
    mRNA BC006323.2 AAH06323.1
    mRNA BG722908.1 None
    mRNA BQ630948.1 None
    mRNA BT009918.1 AAP88920.1
    mRNA BX537833.1 CAD97847.1
    other-genetic DQ890692.2 ABM81618.1
    other-genetic EU176476.1 ABW03277.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75027.2 GenPept UniProtKB/Swiss-Prot:O75027
    Q7Z3K5 GenPept UniProtKB/TrEMBL:Q7Z3K5

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