LOCUS       NP_009119                718 aa            linear   PRI 29-APR-2025
DEFINITION  mitochondrial potassium channel ATP-binding subunit isoform b [Homo
            sapiens].
ACCESSION   NP_009119
VERSION     NP_009119.2
DBSOURCE    REFSEQ: accession NM_007188.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 718)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (residues 1 to 718)
  AUTHORS   Li,S., Ren,Y., Lu,X., Shen,Y. and Yang,X.
  TITLE     Cryo-EM structure of human ABCB8 transporter in nucleotide binding
            state
  JOURNAL   Biochem Biophys Res Commun 557, 187-191 (2021)
   PUBMED   33872987
  REMARK    GeneRIF: Cryo-EM structure of human ABCB8 transporter in nucleotide
            binding state.
            Erratum:[Biochem Biophys Res Commun. 2021 Aug 6;565:100. doi:
            10.1016/j.bbrc.2021.04.110. PMID: 33985759]
REFERENCE   3  (residues 1 to 718)
  AUTHORS   Chang,H.C., Shapiro,J.S., Jiang,X., Senyei,G., Sato,T., Geier,J.,
            Sawicki,K.T. and Ardehali,H.
  TITLE     Augmenter of liver regeneration regulates cellular iron homeostasis
            by modulating mitochondrial transport of ATP-binding cassette B8
  JOURNAL   Elife 10, e65158 (2021)
   PUBMED   33835027
  REMARK    GeneRIF: Augmenter of liver regeneration regulates cellular iron
            homeostasis by modulating mitochondrial transport of ATP-binding
            cassette B8.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 718)
  AUTHORS   Paggio,A., Checchetto,V., Campo,A., Menabo,R., Di Marco,G., Di
            Lisa,F., Szabo,I., Rizzuto,R. and De Stefani,D.
  TITLE     Identification of an ATP-sensitive potassium channel in
            mitochondria
  JOURNAL   Nature 572 (7771), 609-613 (2019)
   PUBMED   31435016
REFERENCE   5  (residues 1 to 718)
  AUTHORS   Yang,X., Yang,J., Li,L., Sun,L., Yi,X., Han,X., Si,W., Yan,R.,
            Chen,Z., Xie,G., Li,W., Shang,Y. and Liang,J.
  TITLE     PAAT, a novel ATPase and trans-regulator of mitochondrial ABC
            transporters, is critically involved in the maintenance of
            mitochondrial homeostasis
  JOURNAL   FASEB J 28 (11), 4821-4834 (2014)
   PUBMED   25063848
REFERENCE   6  (residues 1 to 718)
  AUTHORS   Yasui,K., Mihara,S., Zhao,C., Okamoto,H., Saito-Ohara,F.,
            Tomida,A., Funato,T., Yokomizo,A., Naito,S., Imoto,I., Tsuruo,T.
            and Inazawa,J.
  TITLE     Alteration in copy numbers of genes as a mechanism for acquired
            drug resistance
  JOURNAL   Cancer Res 64 (4), 1403-1410 (2004)
   PUBMED   14973057
REFERENCE   7  (residues 1 to 718)
  AUTHORS   Saito,S., Iida,A., Sekine,A., Miura,Y., Ogawa,C., Kawauchi,S.,
            Higuchi,S. and Nakamura,Y.
  TITLE     Three hundred twenty-six genetic variations in genes encoding nine
            members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the
            Japanese population
  JOURNAL   J Hum Genet 47 (1), 38-50 (2002)
   PUBMED   11829140
REFERENCE   8  (residues 1 to 718)
  AUTHORS   Hogue,D.L., Liu,L. and Ling,V.
  TITLE     Identification and characterization of a mammalian mitochondrial
            ATP-binding cassette membrane protein
  JOURNAL   J Mol Biol 285 (1), 379-389 (1999)
   PUBMED   9878413
REFERENCE   9  (residues 1 to 718)
  AUTHORS   Allikmets,R., Gerrard,B., Hutchinson,A. and Dean,M.
  TITLE     Characterization of the human ABC superfamily: isolation and
            mapping of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
REFERENCE   10 (residues 1 to 718)
  AUTHORS   Wang,C. and Brennan,W.A. Jr.
  TITLE     Rat skeletal muscle, liver and brain have different fetal and adult
            forms of the glucose transporter
  JOURNAL   Biochim Biophys Acta 946 (1), 11-18 (1988)
   PUBMED   3145016
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK222911.1 and AC010973.7.
            
            On Aug 17, 2007 this sequence version replaced NP_009119.1.
            
            Summary: This nuclear gene encodes a multi-pass membrane protein
            that is targeted to the mitochondrial inner membrane. The encoded
            protein is an ATP-dependent transporter that may mediate the
            passage of organic and inorganic molecules out of the mitochondria.
            Loss of function of the related gene in mouse results in a
            disruption of iron homeostasis between the mitochondria and
            cytosol. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The encoded
            isoform (b) is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.19273.1,
                                           SRR7410570.423181.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000358849.9/
                                                  ENSP00000351717.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..718
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     Protein         1..718
                     /product="mitochondrial potassium channel ATP-binding
                     subunit isoform b"
                     /note="mitochondrial ABC protein; ATP-binding cassette
                     sub-family B member 8, mitochondrial; mitochondrial
                     ATP-binding cassette 1; ATP-binding cassette, sub-family B
                     (MDR/TAP), member 8; mitochondrial sulfonylurea-receptor;
                     mitochondrial potassium channel ATP-binding subunit"
                     /calculated_mol_wt=77950
     Region          117..697
                     /region_name="MdlB"
                     /note="ABC-type multidrug transport system, ATPase and
                     permease component [Defense mechanisms]; COG1132"
                     /db_xref="CDD:440747"
     CDS             1..718
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /coded_by="NM_007188.5:67..2223"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS5913.1"
                     /db_xref="GeneID:11194"
                     /db_xref="HGNC:HGNC:49"
                     /db_xref="MIM:605464"
ORIGIN      
        1 mlvhlfrvgi rggpfpgrll pplrfqtfsa vrysdgyrss sllravahlr sqlwahlpra
       61 plaprwspsa wcwvggallg pmvlskhphl clvalceaee appasstphv vgsrfnwklf
      121 wqflhphllv lgvavvlalg aalvnvqipl llgqlvevva kytrdhvgsf mtesqnlsth
      181 llilygvqgl ltfgylvlls hvgermavdm rralfssllr qditffdank tgqlvsrltt
      241 dvqefkssfk lvisqglrsc tqvagclvsl smlstrltll lmvatpalmg vgtlmgsglr
      301 klsrqcqeqi aramgvadea lgnvrtvraf ameqreeery gaeleacrcr aeelgrgial
      361 fqglsniafn cmvlgtlfig gslvagqqlt ggdlmsflva sqtvqrsman lsvlfgqvvr
      421 glsagarvfe ymalnpcipl sggccvpkeq lrgsvtfqnv cfsypcrpgf evlkdftltl
      481 ppgkivalvg qsgggkttva sllerfydpt agvvmldgrd lrtldpswlr gqvvgfisqe
      541 pvlfgttime nirfgkleas deevytaare anahefitsf pegyntvvge rgttlsggqk
      601 qrlaiarali kqptvlilde atsaldaese rvvqealdra sagrtvlvia hrlstvrgah
      661 civvmadgrv weagtheell kkgglyaeli rrqaldaprt aapppkkpeg prshqhks
//
