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O75027

- ABCB7_HUMAN

UniProt

O75027 - ABCB7_HUMAN

Protein

ATP-binding cassette sub-family B member 7, mitochondrial

Gene

ABCB7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    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.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei481 – 4811ATPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi505 – 51612ATPPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: RefGenome
    2. ATP binding Source: ProtInc
    3. heme transporter activity Source: ProtInc

    GO - Biological processi

    1. cellular iron ion homeostasis Source: RefGenome
    2. heme transport Source: GOC
    3. small molecule metabolic process Source: Reactome
    4. transmembrane transport Source: RefGenome
    5. transport Source: ProtInc

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_111108. Mitochondrial ABC transporters.
    REACT_160176. Cytosolic iron-sulfur cluster assembly.

    Protein family/group databases

    TCDBi3.A.1.210.4. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family B member 7, mitochondrial
    Alternative name(s):
    ATP-binding cassette transporter 7
    Short name:
    ABC transporter 7 protein
    Gene namesi
    Name:ABCB7
    Synonyms:ABC7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:48. ABCB7.

    Subcellular locationi

    Mitochondrion inner membrane Curated; Multi-pass membrane protein PROSITE-ProRule annotation

    GO - Cellular componenti

    1. integral component of membrane Source: RefGenome
    2. mitochondrial inner membrane Source: UniProtKB
    3. mitochondrion Source: HPA

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti208 – 2081E → D in ASAT. 1 Publication
    VAR_067354
    Natural varianti400 – 4001I → M in ASAT. 1 Publication
    VAR_009156
    Natural varianti411 – 4111V → L in ASAT. 1 Publication
    VAR_022874
    Natural varianti433 – 4331E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 Publication
    VAR_012640

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi301310. phenotype.
    Orphaneti2802. X-linked sideroblastic anemia - ataxia.
    PharmGKBiPA24389.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2222MitochondrionSequence AnalysisAdd
    BLAST
    Chaini23 – 752730ATP-binding cassette sub-family B member 7, mitochondrialPRO_0000000249Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei216 – 2161N6-acetyllysine1 Publication
    Modified residuei251 – 2511N6-acetyllysine1 Publication
    Modified residuei336 – 3361PhosphoserineBy similarity
    Modified residuei340 – 3401PhosphotyrosineBy similarity
    Modified residuei342 – 3421PhosphothreonineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiO75027.
    PaxDbiO75027.
    PRIDEiO75027.

    PTM databases

    PhosphoSiteiO75027.

    Expressioni

    Gene expression databases

    ArrayExpressiO75027.
    BgeeiO75027.
    CleanExiHS_ABCB7.
    GenevestigatoriO75027.

    Organism-specific databases

    HPAiHPA034982.

    Interactioni

    Subunit structurei

    Homodimer or heterodimer.Curated

    Protein-protein interaction databases

    BioGridi106540. 11 interactions.
    IntActiO75027. 2 interactions.
    STRINGi9606.ENSP00000253577.

    Structurei

    3D structure databases

    ProteinModelPortaliO75027.
    SMRiO75027. Positions 127-738.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei141 – 16121HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei186 – 20621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei260 – 28021HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei291 – 31121HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei383 – 40321HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei410 – 43021HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini140 – 436297ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST
    Domaini472 – 706235ABC transporterPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
    Contains 1 ABC transporter domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5265.
    HOVERGENiHBG080194.
    KOiK05662.
    OMAiMHQLSLR.
    OrthoDBiEOG7Z69BT.
    PhylomeDBiO75027.
    TreeFamiTF105195.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O75027-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG    50
    TARAYQIPES LKSITWQRLG KGNSGQFLDA AKALQVWPLI EKRTCWHGHA 100
    GGGLHTDPKE GLKDVDTRKI IKAMLSYVWP KDRPDLRARV AISLGFLGGA 150
    KAMNIVVPFM FKYAVDSLNQ MSGNMLNLSD APNTVATMAT AVLIGYGVSR 200
    AGAAFFNEVR NAVFGKVAQN SIRRIAKNVF LHLHNLDLGF HLSRQTGALS 250
    KAIDRGTRGI SFVLSALVFN LLPIMFEVML VSGVLYYKCG AQFALVTLGT 300
    LGTYTAFTVA VTRWRTRFRI EMNKADNDAG NAAIDSLLNY ETVKYFNNER 350
    YEAQRYDGFL KTYETASLKS TSTLAMLNFG QSAIFSVGLT AIMVLASQGI 400
    VAGTLTVGDL VMVNGLLFQL SLPLNFLGTV YRETRQALID MNTLFTLLKV 450
    DTQIKDKVMA SPLQITPQTA TVAFDNVHFE YIEGQKVLSG ISFEVPAGKK 500
    VAIVGGSGSG KSTIVRLLFR FYEPQKGSIY LAGQNIQDVS LESLRRAVGV 550
    VPQDAVLFHN TIYYNLLYGN ISASPEEVYA VAKLAGLHDA ILRMPHGYDT 600
    QVGERGLKLS GGEKQRVAIA RAILKDPPVI LYDEATSSLD SITEETILGA 650
    MKDVVKHRTS IFIAHRLSTV VDADEIIVLD QGKVAERGTH HGLLANPHSI 700
    YSEMWHTQSS RVQNHDNPKW EAKKENISKE EERKKLQEEI VNSVKGCGNC 750
    SC 752
    Length:752
    Mass (Da):82,641
    Last modified:December 1, 2000 - v2
    Checksum:iB1FFA57ABD24FB90
    GO
    Isoform 2 (identifier: O75027-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         56-56: Q → QQ

    Show »
    Length:753
    Mass (Da):82,769
    Checksum:i9B96042C55C3C62F
    GO
    Isoform 3 (identifier: O75027-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         112-151: Missing.

    Note: No experimental confirmation available. Gene prediction based on EST data.

    Show »
    Length:712
    Mass (Da):78,160
    Checksum:i17AA3D7FBE4F9531
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti141 – 1411A → P in AAC39865. (PubMed:9653160)Curated
    Sequence conflicti258 – 2581R → K in BAA28861. (PubMed:9621516)Curated
    Sequence conflicti271 – 2766LLPIMF → PLPNHV in AAC39865. (PubMed:9653160)Curated
    Sequence conflicti280 – 2801L → LL in AAC39865. (PubMed:9653160)Curated
    Sequence conflicti290 – 2901G → C in AAC39865. (PubMed:9653160)Curated
    Sequence conflicti293 – 2975FALVT → LLGN in AAC39865. (PubMed:9653160)Curated
    Sequence conflicti320 – 3245IEMNK → LEIDQ in AAC39865. (PubMed:9653160)Curated
    Sequence conflicti542 – 5421E → V in AAD47141. (PubMed:9883897)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti208 – 2081E → D in ASAT. 1 Publication
    VAR_067354
    Natural varianti315 – 3151R → G.2 Publications
    VAR_022872
    Natural varianti346 – 3461F → I.2 Publications
    VAR_022873
    Natural varianti400 – 4001I → M in ASAT. 1 Publication
    VAR_009156
    Natural varianti411 – 4111V → L in ASAT. 1 Publication
    VAR_022874
    Natural varianti433 – 4331E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 Publication
    VAR_012640
    Natural varianti580 – 5801A → V.
    Corresponds to variant rs1340989 [ dbSNP | Ensembl ].
    VAR_055471
    Natural varianti581 – 5811V → A.
    Corresponds to variant rs1340989 [ dbSNP | Ensembl ].
    VAR_037972

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei56 – 561Q → QQ in isoform 2. 2 PublicationsVSP_014635
    Alternative sequencei112 – 15140Missing in isoform 3. CuratedVSP_054700Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB005289 mRNA. Translation: BAA28861.1.
    AF133659 mRNA. Translation: AAD33045.1.
    AF241887
    , AF241872, AF241873, AF241874, AF241875, AF241876, AF241877, AF241878, AF241879, AF241880, AF241881, AF241882, AF241883, AF241884, AF241885, AF241886 Genomic DNA. Translation: AAK20173.1.
    AF038950 mRNA. Translation: AAC39865.1.
    BT009918 mRNA. Translation: AAP88920.1.
    AL360179, AL359545 Genomic DNA. Translation: CAH70564.1.
    AL360179, AL359545 Genomic DNA. Translation: CAH70565.1.
    AL359545, AL360179 Genomic DNA. Translation: CAI41573.1.
    AL359545, AL360179 Genomic DNA. Translation: CAI41574.1.
    CH471104 Genomic DNA. Translation: EAW98635.1.
    BC006323 mRNA. Translation: AAH06323.1.
    AF078777 mRNA. Translation: AAD47141.1.
    CCDSiCCDS14428.1. [O75027-2]
    CCDS65290.1. [O75027-3]
    CCDS65291.1. [O75027-1]
    RefSeqiNP_001258625.1. NM_001271696.1. [O75027-1]
    NP_001258626.1. NM_001271697.1. [O75027-3]
    NP_001258627.1. NM_001271698.1.
    NP_004290.2. NM_004299.4. [O75027-2]
    UniGeneiHs.370480.

    Genome annotation databases

    EnsembliENST00000253577; ENSP00000253577; ENSG00000131269. [O75027-2]
    ENST00000339447; ENSP00000343849; ENSG00000131269. [O75027-3]
    ENST00000373394; ENSP00000362492; ENSG00000131269. [O75027-1]
    GeneIDi22.
    KEGGihsa:22.
    UCSCiuc004ebz.4. human. [O75027-2]
    uc004eca.4. human. [O75027-1]
    uc010nlt.4. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB005289 mRNA. Translation: BAA28861.1 .
    AF133659 mRNA. Translation: AAD33045.1 .
    AF241887
    , AF241872 , AF241873 , AF241874 , AF241875 , AF241876 , AF241877 , AF241878 , AF241879 , AF241880 , AF241881 , AF241882 , AF241883 , AF241884 , AF241885 , AF241886 Genomic DNA. Translation: AAK20173.1 .
    AF038950 mRNA. Translation: AAC39865.1 .
    BT009918 mRNA. Translation: AAP88920.1 .
    AL360179 , AL359545 Genomic DNA. Translation: CAH70564.1 .
    AL360179 , AL359545 Genomic DNA. Translation: CAH70565.1 .
    AL359545 , AL360179 Genomic DNA. Translation: CAI41573.1 .
    AL359545 , AL360179 Genomic DNA. Translation: CAI41574.1 .
    CH471104 Genomic DNA. Translation: EAW98635.1 .
    BC006323 mRNA. Translation: AAH06323.1 .
    AF078777 mRNA. Translation: AAD47141.1 .
    CCDSi CCDS14428.1. [O75027-2 ]
    CCDS65290.1. [O75027-3 ]
    CCDS65291.1. [O75027-1 ]
    RefSeqi NP_001258625.1. NM_001271696.1. [O75027-1 ]
    NP_001258626.1. NM_001271697.1. [O75027-3 ]
    NP_001258627.1. NM_001271698.1.
    NP_004290.2. NM_004299.4. [O75027-2 ]
    UniGenei Hs.370480.

    3D structure databases

    ProteinModelPortali O75027.
    SMRi O75027. Positions 127-738.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106540. 11 interactions.
    IntActi O75027. 2 interactions.
    STRINGi 9606.ENSP00000253577.

    Protein family/group databases

    TCDBi 3.A.1.210.4. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei O75027.

    Proteomic databases

    MaxQBi O75027.
    PaxDbi O75027.
    PRIDEi O75027.

    Protocols and materials databases

    DNASUi 22.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000253577 ; ENSP00000253577 ; ENSG00000131269 . [O75027-2 ]
    ENST00000339447 ; ENSP00000343849 ; ENSG00000131269 . [O75027-3 ]
    ENST00000373394 ; ENSP00000362492 ; ENSG00000131269 . [O75027-1 ]
    GeneIDi 22.
    KEGGi hsa:22.
    UCSCi uc004ebz.4. human. [O75027-2 ]
    uc004eca.4. human. [O75027-1 ]
    uc010nlt.4. human.

    Organism-specific databases

    CTDi 22.
    GeneCardsi GC0XM074189.
    GeneReviewsi ABCB7.
    H-InvDB HIX0028475.
    HGNCi HGNC:48. ABCB7.
    HPAi HPA034982.
    MIMi 300135. gene.
    301310. phenotype.
    neXtProti NX_O75027.
    Orphaneti 2802. X-linked sideroblastic anemia - ataxia.
    PharmGKBi PA24389.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5265.
    HOVERGENi HBG080194.
    KOi K05662.
    OMAi MHQLSLR.
    OrthoDBi EOG7Z69BT.
    PhylomeDBi O75027.
    TreeFami TF105195.

    Enzyme and pathway databases

    Reactomei REACT_111108. Mitochondrial ABC transporters.
    REACT_160176. Cytosolic iron-sulfur cluster assembly.

    Miscellaneous databases

    GeneWikii ABCB7.
    GenomeRNAii 22.
    NextBioi 35517837.
    PROi O75027.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75027.
    Bgeei O75027.
    CleanExi HS_ABCB7.
    Genevestigatori O75027.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia."
      Shimada Y., Okuno S., Kawai A., Shinomiya H., Saito A., Suzuki M., Omori Y., Nishino N., Kanemoto N., Fujiwara T., Horie M., Takahashi E.
      J. Hum. Genet. 43:115-122(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-315 AND ILE-346.
      Tissue: Placenta.
    2. "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)."
      Allikmets R., Raskind W.H., Hutchinson A., Schueck N.D., Dean M., Koeller D.M.
      Hum. Mol. Genet. 8:743-749(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASAT MET-400.
    3. "Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation."
      Bekri S., Kispal G., Lange H., Fitzsimons E., Tolmie J., Lill R., Bishop D.F.
      Blood 96:3256-3264(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASAT LYS-433.
    4. "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
      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.
      Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Umbilical cord blood.
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    6. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Muscle.
    9. "Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p."
      Csere P., Lill R., Kispal G.
      FEBS Lett. 441:266-270(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-752 (ISOFORM 1).
    10. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-216 AND LYS-251, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L."
      Maguire A., Hellier K., Hammans S., May A.
      Br. J. Haematol. 115:910-917(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASAT LEU-411, VARIANTS GLY-315 AND ILE-346.
    13. "X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation."
      D'Hooghe M., Selleslag D., Mortier G., Van Coster R., Vermeersch P., Billiet J., Bekri S.
      Eur. J. Paediatr. Neurol. 16:730-735(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASAT ASP-208.

    Entry informationi

    Entry nameiABCB7_HUMAN
    AccessioniPrimary (citable) accession number: O75027
    Secondary accession number(s): G3XAC4
    , O75345, Q5VWY7, Q5VWY8, Q9BRE1, Q9UND1, Q9UP01
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 143 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3