LOCUS       NM_004299               4595 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 7 (ABCB7),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004299
VERSION     NM_004299.6
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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 AK001418.1, AL359545.12 and
            AA403157.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 16, 2018 this sequence version replaced NM_004299.5.
            
            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 (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: SRR14038197.578813.1,
                                           SRR14038191.4378710.1 [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
            1-1389              AK001418.1         15-1403
            1390-1390           AL359545.12        105629-105629       c
            1391-2179           AK001418.1         1405-2193
            2180-2363           AA403157.1         21-204              c
            2364-4595           AL359545.12        87233-89464         c
FEATURES             Location/Qualifiers
     source          1..4595
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.3"
     gene            1..4595
                     /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..2273
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_004290.2"
                     /db_xref="CCDS:CCDS14428.1"
                     /db_xref="GeneID:22"
                     /db_xref="HGNC:HGNC:48"
                     /db_xref="MIM:300135"
                     /translation="MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPH
                     QLGALGTARAYQQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAG
                     GGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPF
                     MFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKV
                     AQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIM
                     FEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAA
                     IDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTA
                     IMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLK
                     VDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGS
                     GSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYN
                     LLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAI
                     LKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQ
                     GKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEE
                     IVNSVKGCGNCSC"
     exon            180..260
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            261..347
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            348..467
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            468..600
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            601..869
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            870..958
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1046
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1221
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1379
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1543
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1673
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1845
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..1949
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1950..2057
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            2058..4595
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2341..2346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: ATTAAA"
     polyA_site      2363
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="major polyA site"
     regulatory      4066..4071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      4088
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
     regulatory      4571..4576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      4595
                     /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 gcctaccagc
      181 agattccaga gtcattaaaa agtatcacat ggcagagatt gggaaaaggc aattcaggac
      241 agttcttaga tgctgcaaag gctctccagg tatggccact gatagaaaag aggacatgtt
      301 ggcatggtca tgcaggagga ggactccaca cagacccaaa agaagggtta aaagatgttg
      361 atactcggaa aatcataaaa gcaatgcttt cttatgtgtg gcccaaagac aggccagatc
      421 tacgagctag agttgccatt tcgctgggat ttttgggtgg tgcaaaggcc atgaatattg
      481 tggttccctt catgtttaaa tatgctgtag acagcctcaa ccagatgtcg ggaaacatgc
      541 tgaacctgag tgatgcacca aatacagttg caaccatggc aacagcagtt ctgattggct
      601 atggtgtatc aagagctgga gctgcttttt ttaacgaagt tcgaaatgca gtatttggca
      661 aggtagccca gaattcaatc cgaagaatag ccaaaaatgt ctttctccat cttcacaacc
      721 tggatctggg ttttcacctg agcagacaga cgggagcttt atctaaggct attgacagag
      781 gaacaagggg tatcagtttt gtcctgagtg ctttggtatt taatcttctt cccatcatgt
      841 ttgaagtgat gcttgtcagt ggtgttttgt attacaaatg cggtgcccag tttgctttgg
      901 taacccttgg aacacttggt acatacacag cattcacagt tgcagtcaca cggtggagaa
      961 ctagatttag aatagaaatg aacaaagcag ataatgatgc aggtaatgct gctatagact
     1021 cactgctgaa ttatgaaact gtgaagtatt ttaataatga aagatatgaa gcacagagat
     1081 atgatggatt tttgaagacg tatgagactg cttcattgaa aagtacctct actctggcta
     1141 tgctgaactt tggtcaaagt gctattttca gtgtcggttt aacagctata atggtgctcg
     1201 ccagtcaggg aattgtggca ggtaccctta ctgttggaga tctagtaatg gtgaatggac
     1261 tgctttttca gctttcatta cccctgaact ttctgggaac tgtatataga gagactagac
     1321 aagcactcat agatatgaac accttgttta ctctactcaa ggtagacacc caaattaaag
     1381 acaaagtgat ggcatctccc cttcagatca caccacagac agctaccgtg gcctttgata
     1441 atgtgcattt tgaatacatt gagggccaga aagtccttag tggaatatcc tttgaagtcc
     1501 ctgcaggaaa gaaagtggcc attgtaggag gtagtgggtc agggaaaagc acaatagtga
     1561 ggctattatt tcgcttctat gagcctcaaa agggtagcat ttatcttgct ggtcaaaata
     1621 tacaagatgt gagcctggaa agccttcgga gggcagtggg agtggtacct caggatgctg
     1681 tcctcttcca taatactatt tattacaacc tcttatatgg aaacatcagt gcttcacctg
     1741 aggaagtgta tgcagtggca aaattagctg gacttcatga tgcaattctt cgaatgccac
     1801 atggatatga cacccaagta ggggaacgag gactcaagct ttcaggagga gaaaagcaaa
     1861 gagtagcaat tgcaagagcc attttgaagg accccccagt catactctat gatgaagcta
     1921 cttcatcgtt agattcgatt actgaagaga ctattcttgg tgccatgaag gatgtggtca
     1981 aacacagaac ttctattttc attgcacaca gattgtcaac agtggttgat gcagatgaaa
     2041 tcattgtctt ggatcagggt aaggtagccg aacgtggtac ccaccatggt ttgcttgcta
     2101 accctcatag tatctattca gaaatgtggc atacacagag cagccgtgtg cagaaccatg
     2161 ataaccccaa atgggaagca aagaaagaaa atatatccaa agaggaggaa agaaagaaac
     2221 tacaagaaga aattgtcaat agtgtgaaag gctgtggaaa ctgttcgtgc taagtcacat
     2281 aagacatttt ctttttttgt tgttttggac tacatatttg cactgaagca gaattgtttt
     2341 attaaaaaaa tcatacattc ccattttcta taatccttct tttagataag atttatttaa
     2401 aaggggattt gagttttaca tctttcatag tctatttaat gtggcatctg tatttatccc
     2461 caaattattt tcttgtcact gtcctggttg tgctcaatgc atactttttg ctacctgttt
     2521 gatattacca cattaccctc ttgaggcctg acattcattt gatctatagc cagatgaatc
     2581 agattggttt cccaattttt atagttttta aaacctttat gctgacaatt tagagggaaa
     2641 gtgtctgttt cttaacatga aagaaaaaga ggatagtgta ggttcattgt ttcttctccc
     2701 tccttcgtcc aattgaaatt gatgtgaaaa tgaatttata aacttttaaa attagaatgt
     2761 atcagaaata gacatgcatt tatagtttga tgtcttactt gataggttac ttactttttt
     2821 cttttttgtt ttgttgtttt ttgttttttg ttgttttttt tttttgagac agattctcat
     2881 tctgtcaccc aggctggagt tcagtggcac atctcggctc tctgcaacct ctgtcttctg
     2941 agttcaagca attatcatgc cttggcctcc caagtagctg gaattacagg cgcatgacac
     3001 cacacctggc taatttttct gtttttagta gagacagggt tttgccatgt tggccaggct
     3061 ggtcttgaac tcctgacctc acatgatccg cccaccttgg cctcccaaag ttctgggatt
     3121 acaggtgtga gccatcatgc ccagcctata cttagaattt tttttttttt ttttttgaga
     3181 cggagtctcg ctctttctcc caggctggag tgcagtggcg cgatctcggc tcactgcaag
     3241 ctccgcctcc tgggttcacg ccattctcct gcctcagcct cctgagtagg tgggactaca
     3301 ggcgcccgcc accatgcctg gctaattttt ttgtattttt agtagagatg gggcttcacc
     3361 gtgttagcca ggatggtctc aatctcctga cctcgtgatc tgcccgcctc ggcctcccaa
     3421 agtgctggga ttacaggctt gagccaccgc acccggccgc tagaattttt gaagtatttg
     3481 caactatgta ctttttgaag gaaaaaaacc ttcattctca tgtcgctatg tagaatattc
     3541 ttcatcatta agcagcacca taactatcat ctagtgatta gaattttatt tttccataaa
     3601 aatatgaggc actgtttttg ttttggacaa aactacacat ttttctttaa agatttacaa
     3661 actcctatgt aatttgaaag ttgctatact gggagtaatc tgaaaagctt agaaagttca
     3721 tttcctttta tatttccatc ttaaatgtgc tgctttttct attcgaagtt tacaaagaaa
     3781 caagtaaatg ggatgtcgtg catgtatgca catgctcaca cgtgtataaa tcagtgtcca
     3841 tttaaaaaat attaacattt aggtaaatag agtattacat attatactct ttagatgatc
     3901 aagactctaa tctgtgttga cacttcagaa tttattaaaa gatcttccct tacttttcag
     3961 taatttaatt agtttcttta agcctgacat aacgaggagg agcccaaaca acataatcaa
     4021 gttttacctt gggaggaaaa aaagttttac ctgctagaaa gaattaataa aatattgcta
     4081 tacattcact tagaaagttc ttctcttttc cagtatgaac ttgctttcat ttgtttggta
     4141 gtaatcattc aatttgaaaa catatgcacc tcatgaatgg ccacataact atgtaataag
     4201 gttttatttc tcagaaaagg tcctaatatt ttattggttt atagttttaa gaaatttttc
     4261 atgataattt gatatgggag agattaattt tagtattgtt gacattggtg ggtggatagc
     4321 tgaacttatc taacttaggt gtccactctt gctatataaa ggtaatttga taagtaacat
     4381 gaaaccagta tttcgtagtc tttgctgcca gagtaagtga tgcaagatct tgcttttaaa
     4441 gctagagtta atactgagat gcataatcaa ctgaaaagtg gattagtttt tttttttttt
     4501 tccttttcaa catttcttac tctgaaacca tagttgttac tgctcttctg ggggtggggt
     4561 gagtactttt aataaaccag ttgcattact ggaaa
//
