LOCUS       NM_007188               4656 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 8 (ABCB8),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_007188
VERSION     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  (bases 1 to 4656)
  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 4656)
  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 4656)
  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 4656)
  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 4656)
  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 4656)
  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 4656)
  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 4656)
  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 4656)
  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 4656)
  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 Jun 2, 2019 this sequence version replaced NM_007188.4.
            
            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##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2308              AK222911.1         1-2308
            2309-4656           AC010973.7         62153-64500
FEATURES             Location/Qualifiers
     source          1..4656
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..4656
                     /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..2223
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /note="isoform b is encoded by transcript variant 2;
                     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 b"
                     /protein_id="NP_009119.2"
                     /db_xref="CCDS:CCDS5913.1"
                     /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
                     LDAESERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKK
                     GGLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS"
     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..2082
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     exon            2083..4656
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2437
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /note="major polyA site"
     regulatory      4632..4637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB8"
                     /gene_synonym="EST328128; M-ABC1; MABC1; MITOSUR"
                     /note="hexamer: AATAAA"
     polyA_site      4656
                     /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 ggtgctggta attgcccacc ggctcagcac tgtccgtggg
     2041 gcccactgca ttgtcgtcat ggccgatggc cgtgtctggg aggctgggac acatgaagag
     2101 ctcctgaaga aaggcgggct atacgccgag ctcatccgga ggcaggccct ggatgccccg
     2161 aggacagcgg ccccaccgcc caaaaagcca gaaggcccca ggagccacca gcacaagtcc
     2221 tgagaagggc cccctgaggt gtggtcgctg ccaagcatca gtgttagggc tggggctcag
     2281 cctgggggag cctactgggg actgagcccc caggagggcc agcatgtgga gagtcgctgc
     2341 ggctgctcct gctcacaata aagccggggc cgagcagctg gcaggggagg ccaatccctc
     2401 cctcccctcc ccagtcctgc cggctgcctc cctcccacca gagtctgcca gagtcattgg
     2461 gctgcaatgg gcagagacag agttccacga gacacctcca ctctattctc cctttgccca
     2521 gacccctcca gacctctcaa gagacgttct ggccagtctc cctgccccac ccagcagctt
     2581 caaattggcc aggcctacag tagctccagg gaatttttaa aaatcagggt ctggaagtgg
     2641 gcctgggaat tcaaacctag gctcttccca cacccttgct aggacctcac ttccctagac
     2701 tggcgactga ctccctctcc tgtgtcccca ctccctccat gggagaagga gcctatcccc
     2761 tggctcaccc cgggacccac agtccccatc ttccaaacaa cctccctcct ttctccctgc
     2821 acagtgaaca cagtcctgat ttctagattt cacctcccct ccccacccac aagggacaca
     2881 ggcctaacag ggcccaacac ttgggtcagg gtaggaggga cggggccaca atggccagtt
     2941 cccacgagaa gcgccagcct gcctggctgt cttccaccgg ccctgccctg tgtgcctggc
     3001 gtctttcacc cactgagatt gtgaaccagc ctccatctac accaagaaca cccagcactg
     3061 aaggagatgg gaggggctga tgcccacctg gagctctctg cttcctgccc acagtgctga
     3121 cgagtacaga gctaaatgga gcagctactg cagaatccag tacagaatcg gtccaggagg
     3181 gtgcggctgt ggacaggcca gcatccccag caggttctgg gaggcgcacc ttgaaagggg
     3241 aaggcagaca tcctgagtga tgggcgcctg tggccctgag actgtggatg agggggctag
     3301 gctccagctg gcttctgagg ggcctggaaa ggcacacaag taggtccttg gctgaactgg
     3361 tgccccagca ggacctcgtg tccctgcact gctgcagatg catcagccct ccccatgttg
     3421 gtgccgctgt cacttcctac tgggatcctt cccctatcca gccacatcca ggctgtggga
     3481 ctacacggtg ccctgttccc ctgggcagga gaagaggtgg tacctgcaat gcaccttcac
     3541 agccaggcaa gcattctgga tttaccctgt gtaaagaagg gtggtaccct ctttcagggg
     3601 tgtgatacag tgcattgatg gagcagctgg tgctgctggg aggccagcct ggaagaggca
     3661 gcagtggctc aagtttgcgt gcaggagcca gagtgggacc cacgggctct tgtgggtgtg
     3721 gtttagaact agatggtgct ttggggacaa gccatccaaa aaccccaggc ccacatccac
     3781 cctgatttga tatcccactt cctgacagat cagaggctgt gtctttaagc agtggaggtc
     3841 caggagcaga gcctggggct ggttcacagc taaacccctc cttagggcag cccagagtag
     3901 ggcctcagct ggcaagtcca caagccctgc tggggccctg cttgttggcc tgacccctcc
     3961 ctcaccaggc agccagccaa ggtggttcct gcttcaccca ctcagtcatc agcctcaggc
     4021 tgcccaaaat gcctctgaca ccagatttat atcttctggg cggcttcttt aaatccagcc
     4081 cttcacccgc cccctagaga agcagtgaaa ccccttggct agtccagctg gaagagctag
     4141 accgcaggag ccgcgccgtc ttcctaacct cgcctcggcc ttcgctccac agtggagagt
     4201 gggagcctag ctgtgcttga tgctgaatgc ctgttttgag agtgtgagtg ggatcatcta
     4261 cagtaaatac ttgcaaagca tggcactgtg gctctgggga gctggtacgc ctgtgctgta
     4321 accatggtac tcagtccttc caaagtgttt attaatcaag cacctgtcat gtgccattga
     4381 gcccacgatg gggaatgagg acagtccctg cccccatgaa gcttgtgtcc tgttgggagg
     4441 acagacaggt ggcccagcag ttgcagcatg gtgtgtgcac acgtttggct ggtggaacca
     4501 tgtttctacc actcatggtc aaaaaaagcc caccaaagtc ctgggagttc acatctgtgt
     4561 gatgatacgg caacattgtt tgtaatggaa agactggaca cccccagtgc ccatcagtgg
     4621 gggagtcatt aaataaacta tggtatgtgc acataa
//
