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Identification
HMDB Protein ID HMDBP08627
Secondary Accession Numbers
  • 14342
Name ATP-binding cassette sub-family B member 7, mitochondrial
Synonyms
  1. ABC transporter 7 protein
  2. ATP-binding cassette transporter 7
Gene Name ABCB7
Protein Type Unknown
Biological Properties
General Function Involved in ATP binding
Specific Function Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
active transmembrane transporter activity
primary active transmembrane transporter activity
p-p-bond-hydrolysis-driven transmembrane transporter activity
atpase activity, coupled to transmembrane movement of substances
binding
nucleotide binding
catalytic activity
hydrolase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
transmembrane transporter activity
atpase activity
transporter activity
nucleoside-triphosphatase activity
hydrolase activity, acting on acid anhydrides
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
Process
establishment of localization
transport
transmembrane transport
Cellular Location
  1. Multi-pass membrane protein (Potential)
  2. Mitochondrion inner membrane
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs ABCB7
Gene Sequence
>2259 bp
ATGGCGCTGCTCGCGATGCATTCTTGGCGCTGGGCGGCCGCGGCGGCTGCTTTCGAAAAG
CGCCGGCACTCCGCGATTCTGATCCGGCCTTTAGTCTCTGTTAGCGGCTCAGGTCCGCAG
TGGAGGCCACATCAACTCGGCGCCTTGGGAACCGCTCGAGCCTACCAGATTCCAGAGTCA
TTAAAAAGTATCACATGGCAGAGATTGGGAAAAGGCAATTCAGGACAGTTCTTAGATGCT
GCAAAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCA
GGAGGAGGACTCCACACAGACCCAAAAGAAGGGTTAAAAGATGTTGATACTCGGAAAATC
ATAAAAGCAATGCTTTCTTATGTGTGGCCCAAAGACAGGCCAGATCTACGAGCTAGAGTT
GCCATTTCGCTGGGATTTTTGGGTGGTGCAAAGGCCATGAATATTGTGGTTCCCTTCATG
TTTAAATATGCTGTAGACAGCCTCAACCAGATGTCGGGAAACATGCTGAACCTGAGTGAT
GCACCAAATACAGTTGCAACCATGGCAACAGCAGTTCTGATTGGCTATGGTGTATCAAGA
GCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGTAGCCCAGAAT
TCAATCCGAAGAATAGCCAAAAATGTCTTTCTCCATCTTCACAACCTGGATCTGGGTTTT
CACCTGAGCAGACAGACGGGAGCTTTATCTAAGGCTATTGACAGAGGAACAAAGGGTATC
AGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGAAGTGATGCTT
GTCAGTGGTGTTTTGTATTACAAATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGAACA
CTTGGTACATACACAGCATTCACAGTTGCAGTCACACGGTGGGGAACTAGATTTAGAATA
GAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACTGCTGAATTAT
GAAACTGTGAAGTATATTAATAATGAAAGATATGAAGCACAGAGATATGATGGATTTTTG
AAGACGTATGAGACTGCTTCATTGAAAAGTACCTCTACTCTGGCTATGCTGAACTTTGGT
CAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAGTCAGGGAATT
GTGGCAGGTACCCTTACTGTTGGAGATCTAGTAATGGTGAATGGACTGCTTTTTCAGCTT
TCATTACCCCTGAACTTTCTGGGAACTGTATATAGAGAGACTAGACAAGCACTCATAGAT
ATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAAGACAAAGTGATGGCA
TCTCCCCTTCAGATCACACCACAGACAGCTACCGTGGCCTTTGATAATGTGCATTTTGAA
TACATTGAGGGCCAGAAAGTCCTTAGTGGAATATCCTTTGAAGTCCCTGCAGGAAAGAAA
GTGGCCATTGTAGGAGGTAGTGGGTCAGGGAAAAGCACAATAGTGAGGCTATTATTTCGC
TTCTATGAGCCTCAAAAGGGTAGCATTTATCTTGCTGGTCAAAATATACAAGATGTGAGC
CTGGAAAGCCTTCGGAGGGCAGTGGGAGTGGTACCTCAGGATGCTGTCCTCTTCCATAAT
ACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGAAGTGTATGCA
GTGGCAAAATTAGCTGGACTTCATGATGCAATTCTTCGAATGCCACATGGATATGACACC
CAAGTAGGGGAACGAGGACTCAAGCTTTCAGGAGGAGAAAAGCAAAGAGTAGCAATTGCA
AGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTCATCGTTAGAT
TCGATTACTGAAGAGACTATTCTTGGTGCCATGAAGGATGTGGTCAAACACAGAACTTCT
ATTTTCATTGCACACAGATTGTCAACAGTGGTTGATGCAGATGAAATCATTGTCTTGGAT
CAGGGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCCTCATAGTATC
TATTCAGAAATGTGGCATACACAGAGCAGCCGTGTGCAGAACCATGATAACCCCAAATGG
GAAGCAAAGAAAGAAAATATATCCAAAGAGGAGGAAAGAAAGAAACTACAAGAAGAAATT
GTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAA
Protein Properties
Number of Residues 752
Molecular Weight 82640.6
Theoretical pI 9.79
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 141-161
  • 186-206
  • 260-280
  • 291-311
  • 383-403
  • 410-430
Protein Sequence
>ATP-binding cassette sub-family B member 7, mitochondrial
MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPES
LKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKI
IKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSD
APNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGF
HLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGT
LGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFL
KTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQL
SLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFE
YIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVS
LESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDT
QVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTS
IFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKW
EAKKENISKEEERKKLQEEIVNSVKGCGNCSC
GenBank ID Protein 3228279
UniProtKB/Swiss-Prot ID O75027
UniProtKB/Swiss-Prot Entry Name ABCB7_HUMAN
PDB IDs Not Available
GenBank Gene ID AB005289
GeneCard ID ABCB7
GenAtlas ID ABCB7
HGNC ID HGNC:48
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  3. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, 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 KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  4. Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z: Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8175-80. [PubMed:9653160 ]
  5. Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, Suzuki M, Omori Y, Nishino N, Kanemoto N, Fujiwara T, Horie M, Takahashi E: Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J Hum Genet. 1998;43(2):115-22. [PubMed:9621516 ]
  6. Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM: Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999 May;8(5):743-9. [PubMed:10196363 ]
  7. Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF: Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood. 2000 Nov 1;96(9):3256-64. [PubMed:11050011 ]
  8. Csere P, Lill R, Kispal G: Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. FEBS Lett. 1998 Dec 18;441(2):266-70. [PubMed:9883897 ]
  9. Maguire A, Hellier K, Hammans S, May A: X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Br J Haematol. 2001 Dec;115(4):910-7. [PubMed:11843825 ]