Details for: ABCB7

Gene ID: 22

Symbol: ABCB7

Ensembl ID: ENSG00000131269

Description: ATP binding cassette subfamily B member 7

Associated with

Other Information

Genular Protein ID: 3165009232

Symbol: ABCB7_HUMAN

Name: ATP-binding cassette transporter 7

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9621516

Title: Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.

PubMed ID: 9621516

DOI: 10.1007/s100380050051

PubMed ID: 10196363

Title: Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

PubMed ID: 10196363

DOI: 10.1093/hmg/8.5.743

PubMed ID: 11050011

Title: Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.

PubMed ID: 11050011

PubMed ID: 9653160

Title: Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.

PubMed ID: 9653160

DOI: 10.1073/pnas.95.14.8175

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9883897

Title: Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p.

PubMed ID: 9883897

DOI: 10.1016/s0014-5793(98)01560-9

PubMed ID: 17192393

Title: RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.

PubMed ID: 17192393

DOI: 10.1182/blood-2006-08-041632

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25063848

Title: PAAT, a novel ATPase and trans-regulator of mitochondrial ABC transporters, is critically involved in the maintenance of mitochondrial homeostasis.

PubMed ID: 25063848

DOI: 10.1096/fj.14-254045

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30765471

Title: Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.

PubMed ID: 30765471

DOI: 10.3324/haematol.2018.214320

PubMed ID: 33157103

Title: Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.

PubMed ID: 33157103

DOI: 10.1016/j.abb.2020.108661

PubMed ID: 11843825

Title: X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.

PubMed ID: 11843825

DOI: 10.1046/j.1365-2141.2001.03015.x

PubMed ID: 22398176

Title: X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation.

PubMed ID: 22398176

DOI: 10.1016/j.ejpn.2012.02.003

Sequence Information:

  • Length: 752
  • Mass: 82641
  • Checksum: B1FFA57ABD24FB90
  • Sequence:
  • MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQIPES 
    LKSITWQRLG KGNSGQFLDA AKALQVWPLI EKRTCWHGHA GGGLHTDPKE GLKDVDTRKI 
    IKAMLSYVWP KDRPDLRARV AISLGFLGGA KAMNIVVPFM FKYAVDSLNQ MSGNMLNLSD 
    APNTVATMAT AVLIGYGVSR AGAAFFNEVR NAVFGKVAQN SIRRIAKNVF LHLHNLDLGF 
    HLSRQTGALS KAIDRGTRGI SFVLSALVFN LLPIMFEVML VSGVLYYKCG AQFALVTLGT 
    LGTYTAFTVA VTRWRTRFRI EMNKADNDAG NAAIDSLLNY ETVKYFNNER YEAQRYDGFL 
    KTYETASLKS TSTLAMLNFG QSAIFSVGLT AIMVLASQGI VAGTLTVGDL VMVNGLLFQL 
    SLPLNFLGTV YRETRQALID MNTLFTLLKV DTQIKDKVMA SPLQITPQTA TVAFDNVHFE 
    YIEGQKVLSG ISFEVPAGKK VAIVGGSGSG KSTIVRLLFR FYEPQKGSIY LAGQNIQDVS 
    LESLRRAVGV VPQDAVLFHN TIYYNLLYGN ISASPEEVYA VAKLAGLHDA ILRMPHGYDT 
    QVGERGLKLS GGEKQRVAIA RAILKDPPVI LYDEATSSLD SITEETILGA MKDVVKHRTS 
    IFIAHRLSTV VDADEIIVLD QGKVAERGTH HGLLANPHSI YSEMWHTQSS RVQNHDNPKW 
    EAKKENISKE EERKKLQEEI VNSVKGCGNC SC

Genular Protein ID: 2345728475

Symbol: A0A087WW65_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 713
  • Mass: 78288
  • Checksum: D7D9854F432DDB96
  • Sequence:
  • MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQQIPE 
    SLKSITWQRL GKGNSGQFLD AAKALQVWPL IEKRTCWHGH AGGGLHTDPK EGAMNIVVPF 
    MFKYAVDSLN QMSGNMLNLS DAPNTVATMA TAVLIGYGVS RAGAAFFNEV RNAVFGKVAQ 
    NSIRRIAKNV FLHLHNLDLG FHLSRQTGAL SKAIDRGTRG ISFVLSALVF NLLPIMFEVM 
    LVSGVLYYKC GAQFALVTLG TLGTYTAFTV AVTRWRTRFR IEMNKADNDA GNAAIDSLLN 
    YETVKYFNNE RYEAQRYDGF LKTYETASLK STSTLAMLNF GQSAIFSVGL TAIMVLASQG 
    IVAGTLTVGD LVMVNGLLFQ LSLPLNFLGT VYRETRQALI DMNTLFTLLK VDTQIKDKVM 
    ASPLQITPQT ATVAFDNVHF EYIEGQKVLS GISFEVPAGK KVAIVGGSGS GKSTIVRLLF 
    RFYEPQKGSI YLAGQNIQDV SLESLRRAVG VVPQDAVLFH NTIYYNLLYG NISASPEEVY 
    AVAKLAGLHD AILRMPHGYD TQVGERGLKL SGGEKQRVAI ARAILKDPPV ILYDEATSSL 
    DSITEETILG AMKDVVKHRT SIFIAHRLST VVDADEIIVL DQGKVAERGT HHGLLANPHS 
    IYSEMWHTQS SRVQNHDNPK WEAKKENISK EEERKKLQEE IVNSVKGCGN CSC

Genular Protein ID: 2192703443

Symbol: A0A0S2Z2Z3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 753
  • Mass: 82769
  • Checksum: 9B96042C55C3C62F
  • Sequence:
  • MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQQIPE 
    SLKSITWQRL GKGNSGQFLD AAKALQVWPL IEKRTCWHGH AGGGLHTDPK EGLKDVDTRK 
    IIKAMLSYVW PKDRPDLRAR VAISLGFLGG AKAMNIVVPF MFKYAVDSLN QMSGNMLNLS 
    DAPNTVATMA TAVLIGYGVS RAGAAFFNEV RNAVFGKVAQ NSIRRIAKNV FLHLHNLDLG 
    FHLSRQTGAL SKAIDRGTRG ISFVLSALVF NLLPIMFEVM LVSGVLYYKC GAQFALVTLG 
    TLGTYTAFTV AVTRWRTRFR IEMNKADNDA GNAAIDSLLN YETVKYFNNE RYEAQRYDGF 
    LKTYETASLK STSTLAMLNF GQSAIFSVGL TAIMVLASQG IVAGTLTVGD LVMVNGLLFQ 
    LSLPLNFLGT VYRETRQALI DMNTLFTLLK VDTQIKDKVM ASPLQITPQT ATVAFDNVHF 
    EYIEGQKVLS GISFEVPAGK KVAIVGGSGS GKSTIVRLLF RFYEPQKGSI YLAGQNIQDV 
    SLESLRRAVG VVPQDAVLFH NTIYYNLLYG NISASPEEVY AVAKLAGLHD AILRMPHGYD 
    TQVGERGLKL SGGEKQRVAI ARAILKDPPV ILYDEATSSL DSITEETILG AMKDVVKHRT 
    SIFIAHRLST VVDADEIIVL DQGKVAERGT HHGLLANPHS IYSEMWHTQS SRVQNHDNPK 
    WEAKKENISK EEERKKLQEE IVNSVKGCGN CSC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.