LOCUS       NM_001282292            4581 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 8 (ABCB8),
            transcript variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001282292 XM_005249936
VERSION     NM_001282292.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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  (bases 1 to 4581)
  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 (bases 1 to 4581)
  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 HY000407.1, BC141836.1 and
            AC010973.7.
            
            On Jun 2, 2019 this sequence version replaced NM_001282292.1.
            
            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 (3) lacks an alternate in-frame
            exon in the 5' coding region and uses an alternate in-frame splice
            site in the 3' coding region, compared to variant 1. The encoded
            isoform (c) 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 :: SRR1803616.30673.1, BC141836.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                HY000407.1         29-40
            13-2362             BC141836.1         1-2350
            2363-4581           AC010973.7         62282-64500
FEATURES             Location/Qualifiers
     source          1..4581
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..4581
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /note="ATP binding cassette subfamily B member 8"
                     /db_xref="GeneID:11194"
                     /db_xref="HGNC:HGNC:49"
                     /db_xref="MIM:605464"
     exon            1..161
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..2148
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /note="isoform c is encoded by transcript variant 3;
                     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"
                     /codon_start=1
                     /product="mitochondrial potassium channel ATP-binding
                     subunit isoform c"
                     /protein_id="NP_001269221.1"
                     /db_xref="CCDS:CCDS64800.1"
                     /db_xref="GeneID:11194"
                     /db_xref="HGNC:HGNC:49"
                     /db_xref="MIM:605464"
                     /translation="MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRYSDGYRSSSLLR
                     AVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEEAP
                     PASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQLVEVVA
                     KYTRDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSL
                     LRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTR
                     LTLLLMVATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQ
                     REEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGG
                     DLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQ
                     LRGSVTFQNVCFSYPCRPGFEVLKDFTLTLPPGKIVALVGQSGGGKTTVASLLERFYD
                     PTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYT
                     AAREANAHEFITSFPEGYNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSA
                     LDAESERVVQEALDRASAGRTVLAGTHEELLKKGGLYAELIRRQALDAPRTAAPPPKK
                     PEGPRSHQHKS"
     exon            162..474
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            475..630
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            631..725
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            726..831
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            832..993
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1079
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1177
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1283
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1317
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1454
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1549
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1550..1683
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1831
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            1832..2007
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            2008..4581
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2362
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /note="major polyA site"
     regulatory      4557..4562
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /note="hexamer: AATAAA"
     polyA_site      4581
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
ORIGIN      
        1 atagagccct cagtgggatg agggtgaaac tgctattgcc ggcggctcct gttttaccgc
       61 gtcagcatgc tggtgcattt atttcgggtc gggattcggg gtggcccatt cccaggcagg
      121 ctgctaccgc ccctccgctt ccagacattc tcagctgtca ggtactctga tggctaccgc
      181 agctcctccc tcctccgggc cgtggcccac ctgcggtccc agctctgggc ccacctccct
      241 cgagcccccc tagctcccag atggagcccc tctgcctggt gctgggttgg gggagccctg
      301 ctaggcccca tggtactgag taagcatccc cacctctgcc ttgtggccct gtgtgaggca
      361 gaagaggccc ctcctgccag ctccacaccc catgtcgtgg ggtctcgctt taactggaag
      421 ctcttctggc agtttctgca cccccacctg ctggtcctgg gggtagccgt cgtgctggcc
      481 ttgggtgcgg cactcgtgaa tgtacagatc cccctgctcc tgggccagct ggtagaggtc
      541 gtggccaagt acacaaggga ccacgtaggg agtttcatga ctgagtccca gaatctcagc
      601 acccacctgc ttatcctcta tggtgtccag ggactgctga ccttcgggta cctggtgctg
      661 ctgtcccacg ttggcgagcg catggctgtg gacatgcgga gggccctctt cagctccctg
      721 ctccgacaag acatcacctt ctttgacgcc aataagacag ggcagctggt gagccgcttg
      781 acaactgacg tgcaggagtt taagtcatcc ttcaagcttg tcatctccca ggggctgcga
      841 agctgcaccc aggtggcagg ctgcctggtg tccctgtcca tgctgtcgac acgcctcacg
      901 ctgctgctga tggtggccac accagccctg atgggagtgg gcaccctgat gggctcaggc
      961 ctccgaaaat tgtctcgcca gtgtcaggag cagatcgcca gggcaatggg cgtagcagac
     1021 gaggccctgg gcaatgtgcg gactgtgcgt gccttcgcca tggagcaacg ggaagaggag
     1081 cgctatgggg cagagctgga agcctgccgc tgccgggcag aggagctggg ccgcggcatc
     1141 gccttgttcc aagggctttc caacatcgcc ttcaactgca tggtcttggg taccctattt
     1201 attgggggct cccttgtggc cggacagcag ctgacagggg gagacctcat gtccttcctg
     1261 gtggcctccc agacagtgca aaggtccatg gccaacctct ctgtcctgtt tgggcaggtg
     1321 gtccgggggc tgagtgcagg tgcccgggtc tttgagtaca tggccctgaa cccctgcatc
     1381 ccactgtctg ggggctgctg cgtccccaaa gagcagctgc gtggctccgt tacatttcag
     1441 aacgtctgct tcagctaccc ctgccgcccc ggcttcgagg tgctgaaaga cttcaccctg
     1501 acgctgcccc ctggcaagat cgtggccctc gtgggccagt ctggcggagg aaagaccacc
     1561 gtggcttccc tgctggagcg cttctacgac cccacggcag gcgtggtgat gctggatggg
     1621 cgggacctgc gcacccttga cccctcctgg ctccggggcc aggttgtcgg cttcatcagc
     1681 caggagcccg tcctgtttgg gacgaccatc atggaaaaca tccgctttgg gaagctggaa
     1741 gcttccgatg aagaggtgta cacagccgcc cgggaagcga atgctcacga gttcatcacc
     1801 agcttccccg agggctacaa cacggtcgtc ggtgaacggg gcactaccct gtctgggggc
     1861 cagaagcagc gcctggccat cgcccgagcc cttatcaagc agcccacggt gctgatactg
     1921 gatgaagcta ccagcgcgct ggatgcagag tccgagcggg ttgtacagga ggccctggac
     1981 cgggccagtg caggccgcac ggtgctggct gggacacatg aagagctcct gaagaaaggc
     2041 gggctatacg ccgagctcat ccggaggcag gccctggatg ccccgaggac agcggcccca
     2101 ccgcccaaaa agccagaagg ccccaggagc caccagcaca agtcctgaga agggccccct
     2161 gaggtgtggt cgctgccaag catcagtgtt agggctgggg ctcagcctgg gggagcctac
     2221 tggggactga gcccccagga gggccagcat gtggagagtc gctgcggctg ctcctgctca
     2281 caataaagcc ggggccgagc agctggcagg ggaggccaat ccctccctcc cctccccagt
     2341 cctgccggct gcctccctcc caccagagtc tgccagagtc attgggctgc aatgggcaga
     2401 gacagagttc cacgagacac ctccactcta ttctcccttt gcccagaccc ctccagacct
     2461 ctcaagagac gttctggcca gtctccctgc cccacccagc agcttcaaat tggccaggcc
     2521 tacagtagct ccagggaatt tttaaaaatc agggtctgga agtgggcctg ggaattcaaa
     2581 cctaggctct tcccacaccc ttgctaggac ctcacttccc tagactggcg actgactccc
     2641 tctcctgtgt ccccactccc tccatgggag aaggagccta tcccctggct caccccggga
     2701 cccacagtcc ccatcttcca aacaacctcc ctcctttctc cctgcacagt gaacacagtc
     2761 ctgatttcta gatttcacct cccctcccca cccacaaggg acacaggcct aacagggccc
     2821 aacacttggg tcagggtagg agggacgggg ccacaatggc cagttcccac gagaagcgcc
     2881 agcctgcctg gctgtcttcc accggccctg ccctgtgtgc ctggcgtctt tcacccactg
     2941 agattgtgaa ccagcctcca tctacaccaa gaacacccag cactgaagga gatgggaggg
     3001 gctgatgccc acctggagct ctctgcttcc tgcccacagt gctgacgagt acagagctaa
     3061 atggagcagc tactgcagaa tccagtacag aatcggtcca ggagggtgcg gctgtggaca
     3121 ggccagcatc cccagcaggt tctgggaggc gcaccttgaa aggggaaggc agacatcctg
     3181 agtgatgggc gcctgtggcc ctgagactgt ggatgagggg gctaggctcc agctggcttc
     3241 tgaggggcct ggaaaggcac acaagtaggt ccttggctga actggtgccc cagcaggacc
     3301 tcgtgtccct gcactgctgc agatgcatca gccctcccca tgttggtgcc gctgtcactt
     3361 cctactggga tccttcccct atccagccac atccaggctg tgggactaca cggtgccctg
     3421 ttcccctggg caggagaaga ggtggtacct gcaatgcacc ttcacagcca ggcaagcatt
     3481 ctggatttac cctgtgtaaa gaagggtggt accctctttc aggggtgtga tacagtgcat
     3541 tgatggagca gctggtgctg ctgggaggcc agcctggaag aggcagcagt ggctcaagtt
     3601 tgcgtgcagg agccagagtg ggacccacgg gctcttgtgg gtgtggttta gaactagatg
     3661 gtgctttggg gacaagccat ccaaaaaccc caggcccaca tccaccctga tttgatatcc
     3721 cacttcctga cagatcagag gctgtgtctt taagcagtgg aggtccagga gcagagcctg
     3781 gggctggttc acagctaaac ccctccttag ggcagcccag agtagggcct cagctggcaa
     3841 gtccacaagc cctgctgggg ccctgcttgt tggcctgacc cctccctcac caggcagcca
     3901 gccaaggtgg ttcctgcttc acccactcag tcatcagcct caggctgccc aaaatgcctc
     3961 tgacaccaga tttatatctt ctgggcggct tctttaaatc cagcccttca cccgccccct
     4021 agagaagcag tgaaacccct tggctagtcc agctggaaga gctagaccgc aggagccgcg
     4081 ccgtcttcct aacctcgcct cggccttcgc tccacagtgg agagtgggag cctagctgtg
     4141 cttgatgctg aatgcctgtt ttgagagtgt gagtgggatc atctacagta aatacttgca
     4201 aagcatggca ctgtggctct ggggagctgg tacgcctgtg ctgtaaccat ggtactcagt
     4261 ccttccaaag tgtttattaa tcaagcacct gtcatgtgcc attgagccca cgatggggaa
     4321 tgaggacagt ccctgccccc atgaagcttg tgtcctgttg ggaggacaga caggtggccc
     4381 agcagttgca gcatggtgtg tgcacacgtt tggctggtgg aaccatgttt ctaccactca
     4441 tggtcaaaaa aagcccacca aagtcctggg agttcacatc tgtgtgatga tacggcaaca
     4501 ttgtttgtaa tggaaagact ggacaccccc agtgcccatc agtgggggag tcattaaata
     4561 aactatggta tgtgcacata a
//
