LOCUS       NM_001271698            4514 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 7 (ABCB7),
            transcript variant 4, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001271698
VERSION     NM_001271698.3
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 4514)
  AUTHORS   Feng,S., Jia,J., Lv,G. and Wang,Y.
  TITLE     Knockdown of ABCB7 inhibits esophageal cancer progression by
            inhibiting the TGF-beta/Smad signaling
  JOURNAL   Arch Biochem Biophys 742, 109620 (2023)
   PUBMED   37142077
  REMARK    GeneRIF: Knockdown of ABCB7 inhibits esophageal cancer progression
            by inhibiting the TGF-beta/Smad signaling.
REFERENCE   2  (bases 1 to 4514)
  AUTHORS   Clough,C.A., Pangallo,J., Sarchi,M., Ilagan,J.O., North,K.,
            Bergantinos,R., Stolla,M.C., Naru,J., Nugent,P., Kim,E.,
            Stirewalt,D.L., Subramaniam,A.R., Abdel-Wahab,O., Abkowitz,J.L.,
            Bradley,R.K. and Doulatov,S.
  TITLE     Coordinated missplicing of TMEM14C and ABCB7 causes ring
            sideroblast formation in SF3B1-mutant myelodysplastic syndrome
  JOURNAL   Blood 139 (13), 2038-2049 (2022)
   PUBMED   34861039
  REMARK    GeneRIF: Coordinated missplicing of TMEM14C and ABCB7 causes ring
            sideroblast formation in SF3B1-mutant myelodysplastic syndrome.
REFERENCE   3  (bases 1 to 4514)
  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   4  (bases 1 to 4514)
  AUTHORS   Nie,Z., Yan,Q., Shen,Y. and Yang,X.
  TITLE     Expression, purification and microscopic characterization of human
            ATP-binding cassette sub-family B member 7 protein
  JOURNAL   Protein Expr Purif 183, 105860 (2021)
   PUBMED   33689857
  REMARK    GeneRIF: Expression, purification and microscopic characterization
            of human ATP-binding cassette sub-family B member 7 protein.
REFERENCE   5  (bases 1 to 4514)
  AUTHORS   Pearson,S.A. and Cowan,J.A.
  TITLE     Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster
            exporter and the molecular mechanism of an E433K disease-causing
            mutation
  JOURNAL   Arch Biochem Biophys 697, 108661 (2021)
   PUBMED   33157103
  REMARK    GeneRIF: Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4
            cluster exporter and the molecular mechanism of an E433K
            disease-causing mutation.
REFERENCE   6  (bases 1 to 4514)
  AUTHORS   Csere,P., Lill,R. and Kispal,G.
  TITLE     Identification of a human mitochondrial ABC transporter, the
            functional orthologue of yeast Atm1p
  JOURNAL   FEBS Lett 441 (2), 266-270 (1998)
   PUBMED   9883897
REFERENCE   7  (bases 1 to 4514)
  AUTHORS   Shimada,Y., Okuno,S., Kawai,A., Shinomiya,H., Saito,A., Suzuki,M.,
            Omori,Y., Nishino,N., Kanemoto,N., Fujiwara,T., Horie,M. and
            Takahashi,E.
  TITLE     Cloning and chromosomal mapping of a novel ABC transporter gene
            (hABC7), a candidate for X-linked sideroblastic anemia with
            spinocerebellar ataxia
  JOURNAL   J Hum Genet 43 (2), 115-122 (1998)
   PUBMED   9621516
REFERENCE   8  (bases 1 to 4514)
  AUTHORS   Savary,S., Allikmets,R., Denizot,F., Luciani,M.F., Mattei,M.G.,
            Dean,M. and Chimini,G.
  TITLE     Isolation and chromosomal mapping of a novel ATP-binding cassette
            transporter conserved in mouse and human
  JOURNAL   Genomics 41 (2), 275-278 (1997)
   PUBMED   9143506
REFERENCE   9  (bases 1 to 4514)
  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 4514)
  AUTHORS   Bekri,S., D'Hooghe,M. and Vermeersch,P.
  TITLE     X-Linked Sideroblastic Anemia and Ataxia - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301496
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP228998.1, AK294657.1,
            AA403157.1 and AL359545.12.
            
            On May 31, 2019 this sequence version replaced NM_001271698.2.
            
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters. ABC proteins transport various molecules across
            extra- and intra-cellular membranes. ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            White). This protein is a member of the MDR/TAP subfamily. Members
            of the MDR/TAP subfamily are involved in multidrug resistance as
            well as antigen presentation. This gene encodes a half-transporter
            involved in the transport of heme from the mitochondria to the
            cytosol. With iron/sulfur cluster precursors as its substrates,
            this protein may play a role in metal homeostasis. Mutations in
            this gene have been associated with mitochondrial iron accumulation
            and isodicentric (X)(q13) and sideroblastic anemia. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (4) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. This results
            in a shorter protein (isoform 4), compared to isoform 1.
            
            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 :: SRR14038196.399405.1,
                                           SRR14038193.25671.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 BP228998.1         58-58
            2-2117              AK294657.1         1-2116
            2118-2282           AA403157.1         21-185              c
            2283-4514           AL359545.12        87233-89464         c
FEATURES             Location/Qualifiers
     source          1..4514
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.3"
     gene            1..4514
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="ATP binding cassette subfamily B member 7"
                     /db_xref="GeneID:22"
                     /db_xref="HGNC:HGNC:48"
                     /db_xref="MIM:300135"
     exon            1..179
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..2192
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="isoform 4 is encoded by transcript variant 4;
                     ATP-binding cassette sub-family B member 7, mitochondrial;
                     ABC transporter 7 protein; ATP-binding cassette
                     transporter 7; ATP-binding cassette, sub-family B
                     (MDR/TAP), member 7; iron-sulfur clusters transporter
                     ABCB7, mitochondrial"
                     /codon_start=1
                     /product="iron-sulfur clusters transporter ABCB7,
                     mitochondrial isoform 4"
                     /protein_id="NP_001258627.1"
                     /db_xref="GeneID:22"
                     /db_xref="HGNC:HGNC:48"
                     /db_xref="MIM:300135"
                     /translation="MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPH
                     QLGALGTARAYQALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYV
                     WPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVA
                     TMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSR
                     QTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLG
                     TYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFL
                     KTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLF
                     QLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDN
                     VHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQ
                     NIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAIL
                     RMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGA
                     MKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQ
                     SSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC"
     exon            180..266
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            267..386
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            387..519
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            520..788
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            789..877
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            878..965
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1140
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1298
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1462
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1592
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1764
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1765..1868
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1869..1976
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1977..4514
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2260..2265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: ATTAAA"
     polyA_site      2282
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="major polyA site"
     regulatory      3985..3990
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      4007
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
     regulatory      4490..4495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      4514
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
ORIGIN      
        1 cctcgctcaa gatggcgctg ctcgcgatgc attcttggcg ctgggcggcc gcggcggctg
       61 ctttcgaaaa gcgccggcac tccgcgattc tgatccggcc tttagtctct gttagcggct
      121 caggtccgca gtggaggcca catcaactcg gcgccttggg aaccgctcga gcctaccagg
      181 ctctccaggt atggccactg atagaaaaga ggacatgttg gcatggtcat gcaggaggag
      241 gactccacac agacccaaaa gaagggttaa aagatgttga tactcggaaa atcataaaag
      301 caatgctttc ttatgtgtgg cccaaagaca ggccagatct acgagctaga gttgccattt
      361 cgctgggatt tttgggtggt gcaaaggcca tgaatattgt ggttcccttc atgtttaaat
      421 atgctgtaga cagcctcaac cagatgtcgg gaaacatgct gaacctgagt gatgcaccaa
      481 atacagttgc aaccatggca acagcagttc tgattggcta tggtgtatca agagctggag
      541 ctgctttttt taacgaagtt cgaaatgcag tatttggcaa ggtagcccag aattcaatcc
      601 gaagaatagc caaaaatgtc tttctccatc ttcacaacct ggatctgggt tttcacctga
      661 gcagacagac gggagcttta tctaaggcta ttgacagagg aacaaggggt atcagttttg
      721 tcctgagtgc tttggtattt aatcttcttc ccatcatgtt tgaagtgatg cttgtcagtg
      781 gtgttttgta ttacaaatgc ggtgcccagt ttgctttggt aacccttgga acacttggta
      841 catacacagc attcacagtt gcagtcacac ggtggagaac tagatttaga atagaaatga
      901 acaaagcaga taatgatgca ggtaatgctg ctatagactc actgctgaat tatgaaactg
      961 tgaagtattt taataatgaa agatatgaag cacagagata tgatggattt ttgaagacgt
     1021 atgagactgc ttcattgaaa agtacctcta ctctggctat gctgaacttt ggtcaaagtg
     1081 ctattttcag tgtcggttta acagctataa tggtgctcgc cagtcaggga attgtggcag
     1141 gtacccttac tgttggagat ctagtaatgg tgaatggact gctttttcag ctttcattac
     1201 ccctgaactt tctgggaact gtatatagag agactagaca agcactcata gatatgaaca
     1261 ccttgtttac tctactcaag gtagacaccc aaattaaaga caaagtgatg gcatctcccc
     1321 ttcagatcac accacagaca gctaccgtgg cctttgataa tgtgcatttt gaatacattg
     1381 agggccagaa agtccttagt ggaatatcct ttgaagtccc tgcaggaaag aaagtggcca
     1441 ttgtaggagg tagtgggtca gggaaaagca caatagtgag gctattattt cgcttctatg
     1501 agcctcaaaa gggtagcatt tatcttgctg gtcaaaatat acaagatgtg agcctggaaa
     1561 gccttcggag ggcagtggga gtggtacctc aggatgctgt cctcttccat aatactattt
     1621 attacaacct cttatatgga aacatcagtg cttcacctga ggaagtgtat gcagtggcaa
     1681 aattagctgg acttcatgat gcaattcttc gaatgccaca tggatatgac acccaagtag
     1741 gggaacgagg actcaagctt tcaggaggag aaaagcaaag agtagcaatt gcaagagcca
     1801 ttttgaagga ccccccagtc atactctatg atgaagctac ttcatcgtta gattcgatta
     1861 ctgaagagac tattcttggt gccatgaagg atgtggtcaa acacagaact tctattttca
     1921 ttgcacacag attgtcaaca gtggttgatg cagatgaaat cattgtcttg gatcagggta
     1981 aggtagccga acgtggtacc caccatggtt tgcttgctaa ccctcatagt atctattcag
     2041 aaatgtggca tacacagagc agccgtgtgc agaaccatga taaccccaaa tgggaagcaa
     2101 agaaagaaaa tatatccaaa gaggaggaaa gaaagaaact acaagaagaa attgtcaata
     2161 gtgtgaaagg ctgtggaaac tgttcgtgct aagtcacata agacattttc tttttttgtt
     2221 gttttggact acatatttgc actgaagcag aattgtttta ttaaaaaaat catacattcc
     2281 cattttctat aatccttctt ttagataaga tttatttaaa aggggatttg agttttacat
     2341 ctttcatagt ctatttaatg tggcatctgt atttatcccc aaattatttt cttgtcactg
     2401 tcctggttgt gctcaatgca tactttttgc tacctgtttg atattaccac attaccctct
     2461 tgaggcctga cattcatttg atctatagcc agatgaatca gattggtttc ccaattttta
     2521 tagtttttaa aacctttatg ctgacaattt agagggaaag tgtctgtttc ttaacatgaa
     2581 agaaaaagag gatagtgtag gttcattgtt tcttctccct ccttcgtcca attgaaattg
     2641 atgtgaaaat gaatttataa acttttaaaa ttagaatgta tcagaaatag acatgcattt
     2701 atagtttgat gtcttacttg ataggttact tacttttttc ttttttgttt tgttgttttt
     2761 tgttttttgt tgtttttttt ttttgagaca gattctcatt ctgtcaccca ggctggagtt
     2821 cagtggcaca tctcggctct ctgcaacctc tgtcttctga gttcaagcaa ttatcatgcc
     2881 ttggcctccc aagtagctgg aattacaggc gcatgacacc acacctggct aatttttctg
     2941 tttttagtag agacagggtt ttgccatgtt ggccaggctg gtcttgaact cctgacctca
     3001 catgatccgc ccaccttggc ctcccaaagt tctgggatta caggtgtgag ccatcatgcc
     3061 cagcctatac ttagaatttt tttttttttt tttttgagac ggagtctcgc tctttctccc
     3121 aggctggagt gcagtggcgc gatctcggct cactgcaagc tccgcctcct gggttcacgc
     3181 cattctcctg cctcagcctc ctgagtaggt gggactacag gcgcccgcca ccatgcctgg
     3241 ctaatttttt tgtattttta gtagagatgg ggcttcaccg tgttagccag gatggtctca
     3301 atctcctgac ctcgtgatct gcccgcctcg gcctcccaaa gtgctgggat tacaggcttg
     3361 agccaccgca cccggccgct agaatttttg aagtatttgc aactatgtac tttttgaagg
     3421 aaaaaaacct tcattctcat gtcgctatgt agaatattct tcatcattaa gcagcaccat
     3481 aactatcatc tagtgattag aattttattt ttccataaaa atatgaggca ctgtttttgt
     3541 tttggacaaa actacacatt tttctttaaa gatttacaaa ctcctatgta atttgaaagt
     3601 tgctatactg ggagtaatct gaaaagctta gaaagttcat ttccttttat atttccatct
     3661 taaatgtgct gctttttcta ttcgaagttt acaaagaaac aagtaaatgg gatgtcgtgc
     3721 atgtatgcac atgctcacac gtgtataaat cagtgtccat ttaaaaaata ttaacattta
     3781 ggtaaataga gtattacata ttatactctt tagatgatca agactctaat ctgtgttgac
     3841 acttcagaat ttattaaaag atcttccctt acttttcagt aatttaatta gtttctttaa
     3901 gcctgacata acgaggagga gcccaaacaa cataatcaag ttttaccttg ggaggaaaaa
     3961 aagttttacc tgctagaaag aattaataaa atattgctat acattcactt agaaagttct
     4021 tctcttttcc agtatgaact tgctttcatt tgtttggtag taatcattca atttgaaaac
     4081 atatgcacct catgaatggc cacataacta tgtaataagg ttttatttct cagaaaaggt
     4141 cctaatattt tattggttta tagttttaag aaatttttca tgataatttg atatgggaga
     4201 gattaatttt agtattgttg acattggtgg gtggatagct gaacttatct aacttaggtg
     4261 tccactcttg ctatataaag gtaatttgat aagtaacatg aaaccagtat ttcgtagtct
     4321 ttgctgccag agtaagtgat gcaagatctt gcttttaaag ctagagttaa tactgagatg
     4381 cataatcaac tgaaaagtgg attagttttt tttttttttt ccttttcaac atttcttact
     4441 ctgaaaccat agttgttact gctcttctgg gggtggggtg agtactttta ataaaccagt
     4501 tgcattactg gaaa
//
