LOCUS       NM_001271696            4592 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 7 (ABCB7),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001271696
VERSION     NM_001271696.3
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 4592)
  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 4592)
  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 4592)
  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 4592)
  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 4592)
  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 4592)
  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 4592)
  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 4592)
  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 4592)
  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 4592)
  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, AF133659.1,
            AA403157.1 and AL359545.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 11, 2019 this sequence version replaced NM_001271696.2.
            
            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 (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. This
            results in a shorter protein (isoform 2), compared to 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 :: SRR11853565.30546.1,
                                           SRR14038193.2082345.1 [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
            MANE Ensembl match                 :: ENST00000373394.8/
                                                  ENSP00000362492.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BP228998.1         58-68
            12-2356             AF133659.1         1-2345
            2357-2360           AA403157.1         21-24               c
            2361-4592           AL359545.12        87233-89464         c
FEATURES             Location/Qualifiers
     source          1..4592
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.3"
     gene            1..4592
                     /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..2270
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_001258625.1"
                     /db_xref="CCDS:CCDS65291.1"
                     /db_xref="GeneID:22"
                     /db_xref="HGNC:HGNC:48"
                     /db_xref="MIM:300135"
                     /translation="MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPH
                     QLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGG
                     GLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFM
                     FKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVA
                     QNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMF
                     EVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAI
                     DSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAI
                     MVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKV
                     DTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSG
                     SGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNL
                     LYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAIL
                     KDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQG
                     KVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEI
                     VNSVKGCGNCSC"
     exon            180..257
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            258..344
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            345..464
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            465..597
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            598..866
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            867..955
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1043
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1218
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1376
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1540
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1670
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1671..1842
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1843..1946
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1947..2054
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            2055..4592
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2338..2343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: ATTAAA"
     polyA_site      2360
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="major polyA site"
     regulatory      4063..4068
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      4085
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
     regulatory      4568..4573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      4592
                     /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 gcctaccaga
      181 ttccagagtc attaaaaagt atcacatggc agagattggg aaaaggcaat tcaggacagt
      241 tcttagatgc tgcaaaggct ctccaggtat ggccactgat agaaaagagg acatgttggc
      301 atggtcatgc aggaggagga ctccacacag acccaaaaga agggttaaaa gatgttgata
      361 ctcggaaaat cataaaagca atgctttctt atgtgtggcc caaagacagg ccagatctac
      421 gagctagagt tgccatttcg ctgggatttt tgggtggtgc aaaggccatg aatattgtgg
      481 ttcccttcat gtttaaatat gctgtagaca gcctcaacca gatgtcggga aacatgctga
      541 acctgagtga tgcaccaaat acagttgcaa ccatggcaac agcagttctg attggctatg
      601 gtgtatcaag agctggagct gcttttttta acgaagttcg aaatgcagta tttggcaagg
      661 tagcccagaa ttcaatccga agaatagcca aaaatgtctt tctccatctt cacaacctgg
      721 atctgggttt tcacctgagc agacagacgg gagctttatc taaggctatt gacagaggaa
      781 caaggggtat cagttttgtc ctgagtgctt tggtatttaa tcttcttccc atcatgtttg
      841 aagtgatgct tgtcagtggt gttttgtatt acaaatgcgg tgcccagttt gctttggtaa
      901 cccttggaac acttggtaca tacacagcat tcacagttgc agtcacacgg tggagaacta
      961 gatttagaat agaaatgaac aaagcagata atgatgcagg taatgctgct atagactcac
     1021 tgctgaatta tgaaactgtg aagtatttta ataatgaaag atatgaagca cagagatatg
     1081 atggattttt gaagacgtat gagactgctt cattgaaaag tacctctact ctggctatgc
     1141 tgaactttgg tcaaagtgct attttcagtg tcggtttaac agctataatg gtgctcgcca
     1201 gtcagggaat tgtggcaggt acccttactg ttggagatct agtaatggtg aatggactgc
     1261 tttttcagct ttcattaccc ctgaactttc tgggaactgt atatagagag actagacaag
     1321 cactcataga tatgaacacc ttgtttactc tactcaaggt agacacccaa attaaagaca
     1381 aagtgatggc atctcccctt cagatcacac cacagacagc taccgtggcc tttgataatg
     1441 tgcattttga atacattgag ggccagaaag tccttagtgg aatatccttt gaagtccctg
     1501 caggaaagaa agtggccatt gtaggaggta gtgggtcagg gaaaagcaca atagtgaggc
     1561 tattatttcg cttctatgag cctcaaaagg gtagcattta tcttgctggt caaaatatac
     1621 aagatgtgag cctggaaagc cttcggaggg cagtgggagt ggtacctcag gatgctgtcc
     1681 tcttccataa tactatttat tacaacctct tatatggaaa catcagtgct tcacctgagg
     1741 aagtgtatgc agtggcaaaa ttagctggac ttcatgatgc aattcttcga atgccacatg
     1801 gatatgacac ccaagtaggg gaacgaggac tcaagctttc aggaggagaa aagcaaagag
     1861 tagcaattgc aagagccatt ttgaaggacc ccccagtcat actctatgat gaagctactt
     1921 catcgttaga ttcgattact gaagagacta ttcttggtgc catgaaggat gtggtcaaac
     1981 acagaacttc tattttcatt gcacacagat tgtcaacagt ggttgatgca gatgaaatca
     2041 ttgtcttgga tcagggtaag gtagccgaac gtggtaccca ccatggtttg cttgctaacc
     2101 ctcatagtat ctattcagaa atgtggcata cacagagcag ccgtgtgcag aaccatgata
     2161 accccaaatg ggaagcaaag aaagaaaata tatccaaaga ggaggaaaga aagaaactac
     2221 aagaagaaat tgtcaatagt gtgaaaggct gtggaaactg ttcgtgctaa gtcacataag
     2281 acattttctt tttttgttgt tttggactac atatttgcac tgaagcagaa ttgttttatt
     2341 aaaaaaatca tacattccca ttttctataa tccttctttt agataagatt tatttaaaag
     2401 gggatttgag ttttacatct ttcatagtct atttaatgtg gcatctgtat ttatccccaa
     2461 attattttct tgtcactgtc ctggttgtgc tcaatgcata ctttttgcta cctgtttgat
     2521 attaccacat taccctcttg aggcctgaca ttcatttgat ctatagccag atgaatcaga
     2581 ttggtttccc aatttttata gtttttaaaa cctttatgct gacaatttag agggaaagtg
     2641 tctgtttctt aacatgaaag aaaaagagga tagtgtaggt tcattgtttc ttctccctcc
     2701 ttcgtccaat tgaaattgat gtgaaaatga atttataaac ttttaaaatt agaatgtatc
     2761 agaaatagac atgcatttat agtttgatgt cttacttgat aggttactta cttttttctt
     2821 ttttgttttg ttgttttttg ttttttgttg tttttttttt ttgagacaga ttctcattct
     2881 gtcacccagg ctggagttca gtggcacatc tcggctctct gcaacctctg tcttctgagt
     2941 tcaagcaatt atcatgcctt ggcctcccaa gtagctggaa ttacaggcgc atgacaccac
     3001 acctggctaa tttttctgtt tttagtagag acagggtttt gccatgttgg ccaggctggt
     3061 cttgaactcc tgacctcaca tgatccgccc accttggcct cccaaagttc tgggattaca
     3121 ggtgtgagcc atcatgccca gcctatactt agaatttttt tttttttttt tttgagacgg
     3181 agtctcgctc tttctcccag gctggagtgc agtggcgcga tctcggctca ctgcaagctc
     3241 cgcctcctgg gttcacgcca ttctcctgcc tcagcctcct gagtaggtgg gactacaggc
     3301 gcccgccacc atgcctggct aatttttttg tatttttagt agagatgggg cttcaccgtg
     3361 ttagccagga tggtctcaat ctcctgacct cgtgatctgc ccgcctcggc ctcccaaagt
     3421 gctgggatta caggcttgag ccaccgcacc cggccgctag aatttttgaa gtatttgcaa
     3481 ctatgtactt tttgaaggaa aaaaaccttc attctcatgt cgctatgtag aatattcttc
     3541 atcattaagc agcaccataa ctatcatcta gtgattagaa ttttattttt ccataaaaat
     3601 atgaggcact gtttttgttt tggacaaaac tacacatttt tctttaaaga tttacaaact
     3661 cctatgtaat ttgaaagttg ctatactggg agtaatctga aaagcttaga aagttcattt
     3721 ccttttatat ttccatctta aatgtgctgc tttttctatt cgaagtttac aaagaaacaa
     3781 gtaaatggga tgtcgtgcat gtatgcacat gctcacacgt gtataaatca gtgtccattt
     3841 aaaaaatatt aacatttagg taaatagagt attacatatt atactcttta gatgatcaag
     3901 actctaatct gtgttgacac ttcagaattt attaaaagat cttcccttac ttttcagtaa
     3961 tttaattagt ttctttaagc ctgacataac gaggaggagc ccaaacaaca taatcaagtt
     4021 ttaccttggg aggaaaaaaa gttttacctg ctagaaagaa ttaataaaat attgctatac
     4081 attcacttag aaagttcttc tcttttccag tatgaacttg ctttcatttg tttggtagta
     4141 atcattcaat ttgaaaacat atgcacctca tgaatggcca cataactatg taataaggtt
     4201 ttatttctca gaaaaggtcc taatatttta ttggtttata gttttaagaa atttttcatg
     4261 ataatttgat atgggagaga ttaattttag tattgttgac attggtgggt ggatagctga
     4321 acttatctaa cttaggtgtc cactcttgct atataaaggt aatttgataa gtaacatgaa
     4381 accagtattt cgtagtcttt gctgccagag taagtgatgc aagatcttgc ttttaaagct
     4441 agagttaata ctgagatgca taatcaactg aaaagtggat tagttttttt ttttttttcc
     4501 ttttcaacat ttcttactct gaaaccatag ttgttactgc tcttctgggg gtggggtgag
     4561 tacttttaat aaaccagttg cattactgga aa
//
