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Index > Protein center > ABCB6(Gene name) > Human
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  • ABCB6 (Gene name),
  • ATP-binding cassette sub-family B member 6, mitochondrial (Protein name ),  ABCB6_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    ABCB6(MTABC3;PRP;UMAT);
    Protein name:
    ATP-binding cassette sub-family B member 6, mitochondrial;
    Alternative:
    P-glycoprotein-related protein;Mitochondrial ABC transporter 3(Mt-ABC transporter 3);Ubiquitously-expressed mammalian ABC half transporter;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homodimer.
    Function:
    Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.
    Subcellular Location:
    Mitochondrion outer membrane Multi-pass membrane protein
    Protein Attributes:
    Sequence length:
    842
    Sequence:
    50:
    MVTVGNYCEA | EGPVGPAWMQ | DGLSPCFFFT | LVPSTRMALG | TLALVLALPC | 
    100:
    RRRERPAGAD | SLSWGAGPRI | SPYVLQLLLA | TLQAALPLAG | LAGRVGTARG | 
    150:
    APLPSYLLLA | SVLESLAGAC | GLWLLVVERS | QARQRLAMGI | WIKFRHSPGL | 
    200:
    LLLWTVAFAA | ENLALVSWNS | PQWWWARADL | GQQVQFSLWV | LRYVVSGGLF | 
    250:
    VLGLWAPGLR | PQSYTLQVHE | EDQDVERSQV | RSAAQQSTWR | DFGRKLRLLS | 
    300:
    GYLWPRGSPA | LQLVVLICLG | LMGLERALNV | LVPIFYRNIV | NLLTEKAPWN | 
    350:
    SLAWTVTSYV | FLKFLQGGGT | GSTGFVSNLR | TFLWIRVQQF | TSRRVELLIF | 
    400:
    SHLHELSLRW | HLGRRTGEVL | RIADRGTSSV | TGLLSYLVFN | VIPTLADIII | 
    450:
    GIIYFSMFFN | AWFGLIVFLC | MSLYLTLTIV | VTEWRTKFRR | AMNTQENATR | 
    500:
    ARAVDSLLNF | ETVKYYNAES | YEVERYREAI | IKYQGLEWKS | SASLVLLNQT | 
    550:
    QNLVIGLGLL | AGSLLCAYFV | TEQKLQVGDY | VLFGTYIIQL | YMPLNWFGTY | 
    600:
    YRMIQTNFID | MENMFDLLKE | ETEVKDLPGA | GPLRFQKGRI | EFENVHFSYA | 
    650:
    DGRETLQDVS | FTVMPGQTLA | LVGPSGAGKS | TILRLLFRFY | DISSGCIRID | 
    700:
    GQDISQVTQA | SLRSHIGVVP | QDTVLFNDTI | ADNIRYGRVT | AGNDEVEAAA | 
    750:
    QAAGIHDAIM | AFPEGYRTQV | GERGLKLSGG | EKQRVAIART | ILKAPGIILL | 
    800:
    DEATSALDTS | NERAIQASLA | KVCANRTTIV | VAHRLSTVVN | ADQILVIKDG | 
    842:
    CIVERGRHEA | LLSRGGVYAD | MWQLQQGQEE | TSEDTKPQTM | ER
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    SMR:
    MIM:
    KEGG:
    Pfam:
    UniGene:
    String:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human ATP-binding cassette sub-family B member 6, mitochondrial
    ELISA Kit for Human ATP-binding cassette sub-family B member 6, mitochondrial
    ELISA Kit for Human ATP-binding cassette sub-family B member 6, mitochondrial
    CLIA Kit for Human ATP-binding cassette sub-family B member 6, mitochondrial
    CLIA Kit for Human ATP-binding cassette sub-family B member 6, mitochondrial
    CLIA Kit for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Polyclonal Antibody for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Polyclonal Antibody for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Polyclonal Antibody for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Monoclonal Antibody for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Monoclonal Antibody for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Monoclonal Antibody for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Protein for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Protein for Human ATP-binding cassette sub-family B member 6, mitochondrial
    Protein for Human ATP-binding cassette sub-family B member 6, mitochondrial

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis."
      Mitsuhashi N. , Miki T. , Senbongi H. , Yokoi N. , Yano H. , Miyazaki M. , Nakajima N. , Iwanaga T. , Yokoyama Y. , Shibata T. , Seino S.
      J. Biol. Chem.275:17536-17540(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1);FUNCTION;TISSUE SPECIFICITY;SUBCELLULAR LOCATION
    2. 2.
      "Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6."
      Emadi-Konjin H.-P. , Zhang H. , Anandan V. , Sun D. , Schuetz J.D. , Furuya K.N.
      Biochim. Biophys. Acta1574:117-130(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-229
      tissue: Colon.
      tissue: Liver.
    3. 3.
      "Subcellular localization of the ABC transporter umat."
      Hirsch-Ernst K.I. , Schaefer A. , Ernst B.-P. , Schmitz-Salue C. , Awuah D. , Kahl G.F.
      Submitted (2000-07) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    4. 4.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2);NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 112-842 (ISOFORM 1)
      tissue: Hepatoma.
      tissue: Neuroepithelium.
    5. 5.
      Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S. , Ohara O. , Nagase T. , Kikuno R.F.
      Submitted (2005-03) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
      tissue: Brain.
    6. 6.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
      tissue: Brain.
    7. 7.
      Yu W. , Gibbs R.A.
      Submitted (1998-06) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 332-842 (ISOFORM 1)
      tissue: Brain.
    8. 8.
      "Identification of a mammalian mitochondrial porphyrin transporter."
      Krishnamurthy P.C. , Du G. , Fukuda Y. , Sun D. , Sampath J. , Mercer K.E. , Wang J. , Sosa-Pineda B. , Murti K.G. , Schuetz J.D.
      Nature443:586-589(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;DEVELOPMENTAL STAGE;INDUCTION BY CELLULAR PORPHYRINS;SUBUNIT;SUBCELLULAR LOCATION;INTERACTION WITH HEMIN
    9. 9.
      "Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane."
      Paterson J.K. , Shukla S. , Black C.M. , Tachiwada T. , Garfield S. , Wincovitch S. , Ernst D.N. , Agadir A. , Li X. , Ambudkar S.V. , Szakacs G. , Akiyama S. , Gottesman M.M.
      Biochemistry46:9443-9452(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
    10. 10.
      "Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus."
      Tsuchida M. , Emi Y. , Kida Y. , Sakaguchi M.
      Biochem. Biophys. Res. Commun.369:369-375(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
    11. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;TISSUE SPECIFICITY;VARIANTS MCOPCB7 THR-57 AND VAL-811;CHARACTERIZATION OF VARIANTS MCOPCB7 THR-57 AND VAL-811
    12. 12.
      "ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis."
      Helias V. , Saison C. , Ballif B.A. , Peyrard T. , Takahashi J. , Takahashi H. , Tanaka M. , Deybach J.C. , Puy H. , Le Gall M. , Sureau C. , Pham B.N. , Le Pennec P.Y. , Tani Y. , Cartron J.P. , Arnaud L.
      Nat. Genet.44:170-173(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN LANGEREIS BLOOD GROUP SYSTEM
    13. 13.
      "Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia."
      Andolfo I. , Alper S.L. , Delaunay J. , Auriemma C. , Russo R. , Asci R. , Esposito M.R. , Sharma A.K. , Shmukler B.E. , Brugnara C. , De Franceschi L. , Iolascon A.
      Am. J. Hematol.88:66-72(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;INDUCTION;VARIANTS GLN-375 AND TRP-375;INVOLVEMENT IN FAMILIAL PSEUDOHYPERKALEMIA
    14. 14.
      "Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6."
      Kurashima-Ito K. , Ikeya T. , Senbongi H. , Tochio H. , Mikawa T. , Shibata T. , Ito Y.
      J. Biomol. NMR35:53-71(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 558-842 IN COMPLEX WITH ADP
    15. 15.
      "Structures of the nucleotide-binding domain of the human ABCB6 transporter and its complexes with nucleotides."
      Haffke M. , Menzel A. , Carius Y. , Jahn D. , Heinz D.W.
      Acta Crystallogr. D66:979-987(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 558-842 IN COMPLEXES WITH ADP; ATP AND PHOSPHATE
    16. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-69
    17. 17.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579;CHARACTERIZATION OF VARIANTS DUH3 GLY-170; PRO-356 AND GLU-579
    18. 18.
      "Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."
      Cui Y.X. , Xia X.Y. , Zhou Y. , Gao L. , Shang X.J. , Ni T. , Wang W.P. , Fan X.B. , Yin H.L. , Jiang S.J. , Yao B. , Hu Y.A. , Wang G. , Li X.J.
      PLoS ONE8:E79808-E79808(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DUH3 LYS-555
    19. 19.
      "Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria."
      Liu H. , Li Y. , Hung K.K. , Wang N. , Wang C. , Chen X. , Sheng D. , Fu X. , See K. , Foo J.N. , Low H. , Liany H. , Irwan I.D. , Liu J. , Yang B. , Chen M. , Yu Y. , Yu G. , more...
      PLoS ONE9:E87250-E87250(2014) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT DUH3 VAL-453
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