LOCUS       NM_001271697            4472 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 7 (ABCB7),
            transcript variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001271697
VERSION     NM_001271697.3
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 4472)
  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 4472)
  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 4472)
  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 4472)
  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 4472)
  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 4472)
  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 4472)
  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 4472)
  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 4472)
  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 4472)
  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, BX537833.1,
            AL359545.12 and AA403157.1.
            
            On May 31, 2019 this sequence version replaced NM_001271697.2.
            
            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 (3) uses an alternate in-frame
            splice site in the 5' coding region and lacks an alternate in-frame
            exon, compared to variant 1. This results in a shorter protein
            (isoform 3), 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 :: BX537833.1, SRR14038193.1362136.1
                                           [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
            1-4                 BP228998.1         58-61
            5-509               BX537833.1         1-505
            510-974             BX537833.1         507-971
            975-975             AL359545.12        107817-107817       c
            976-2238            BX537833.1         973-2235
            2239-2240           AA403157.1         21-22               c
            2241-4472           AL359545.12        87233-89464         c
FEATURES             Location/Qualifiers
     source          1..4472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.3"
     gene            1..4472
                     /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..2150
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="isoform 3 is encoded by transcript variant 3;
                     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 3"
                     /protein_id="NP_001258626.1"
                     /db_xref="CCDS:CCDS65290.1"
                     /db_xref="GeneID:22"
                     /db_xref="HGNC:HGNC:48"
                     /db_xref="MIM:300135"
                     /translation="MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPH
                     QLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGG
                     GLHTDPKEGAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSR
                     AGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTR
                     GISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRT
                     RFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTL
                     AMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYR
                     ETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSG
                     ISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAV
                     GVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERG
                     LKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIA
                     HRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEA
                     KKENISKEEERKKLQEEIVNSVKGCGNCSC"
     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..477
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            478..746
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            747..835
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            836..923
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1098
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1256
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1420
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1550
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1722
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1723..1826
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1827..1934
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..4472
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2218..2223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: ATTAAA"
     polyA_site      2240
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="major polyA site"
     regulatory      3943..3948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      3965
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
     regulatory      4448..4453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCB7"
                     /gene_synonym="ABC7; ASAT; Atm1p; EST140535"
                     /note="hexamer: AATAAA"
     polyA_site      4472
                     /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 aggggccatg aatattgtgg
      361 ttcccttcat gtttaaatat gctgtagaca gcctcaacca gatgtcggga aacatgctga
      421 acctgagtga tgcaccaaat acagttgcaa ccatggcaac agcagttctg attggctatg
      481 gtgtatcaag agctggagct gcttttttta acgaagttcg aaatgcagta tttggcaagg
      541 tagcccagaa ttcaatccga agaatagcca aaaatgtctt tctccatctt cacaacctgg
      601 atctgggttt tcacctgagc agacagacgg gagctttatc taaggctatt gacagaggaa
      661 caaggggtat cagttttgtc ctgagtgctt tggtatttaa tcttcttccc atcatgtttg
      721 aagtgatgct tgtcagtggt gttttgtatt acaaatgcgg tgcccagttt gctttggtaa
      781 cccttggaac acttggtaca tacacagcat tcacagttgc agtcacacgg tggagaacta
      841 gatttagaat agaaatgaac aaagcagata atgatgcagg taatgctgct atagactcac
      901 tgctgaatta tgaaactgtg aagtatttta ataatgaaag atatgaagca cagagatatg
      961 atggattttt gaagacgtat gagactgctt cattgaaaag tacctctact ctggctatgc
     1021 tgaactttgg tcaaagtgct attttcagtg tcggtttaac agctataatg gtgctcgcca
     1081 gtcagggaat tgtggcaggt acccttactg ttggagatct agtaatggtg aatggactgc
     1141 tttttcagct ttcattaccc ctgaactttc tgggaactgt atatagagag actagacaag
     1201 cactcataga tatgaacacc ttgtttactc tactcaaggt agacacccaa attaaagaca
     1261 aagtgatggc atctcccctt cagatcacac cacagacagc taccgtggcc tttgataatg
     1321 tgcattttga atacattgag ggccagaaag tccttagtgg aatatccttt gaagtccctg
     1381 caggaaagaa agtggccatt gtaggaggta gtgggtcagg gaaaagcaca atagtgaggc
     1441 tattatttcg cttctatgag cctcaaaagg gtagcattta tcttgctggt caaaatatac
     1501 aagatgtgag cctggaaagc cttcggaggg cagtgggagt ggtacctcag gatgctgtcc
     1561 tcttccataa tactatttat tacaacctct tatatggaaa catcagtgct tcacctgagg
     1621 aagtgtatgc agtggcaaaa ttagctggac ttcatgatgc aattcttcga atgccacatg
     1681 gatatgacac ccaagtaggg gaacgaggac tcaagctttc aggaggagaa aagcaaagag
     1741 tagcaattgc aagagccatt ttgaaggacc ccccagtcat actctatgat gaagctactt
     1801 catcgttaga ttcgattact gaagagacta ttcttggtgc catgaaggat gtggtcaaac
     1861 acagaacttc tattttcatt gcacacagat tgtcaacagt ggttgatgca gatgaaatca
     1921 ttgtcttgga tcagggtaag gtagccgaac gtggtaccca ccatggtttg cttgctaacc
     1981 ctcatagtat ctattcagaa atgtggcata cacagagcag ccgtgtgcag aaccatgata
     2041 accccaaatg ggaagcaaag aaagaaaata tatccaaaga ggaggaaaga aagaaactac
     2101 aagaagaaat tgtcaatagt gtgaaaggct gtggaaactg ttcgtgctaa gtcacataag
     2161 acattttctt tttttgttgt tttggactac atatttgcac tgaagcagaa ttgttttatt
     2221 aaaaaaatca tacattccca ttttctataa tccttctttt agataagatt tatttaaaag
     2281 gggatttgag ttttacatct ttcatagtct atttaatgtg gcatctgtat ttatccccaa
     2341 attattttct tgtcactgtc ctggttgtgc tcaatgcata ctttttgcta cctgtttgat
     2401 attaccacat taccctcttg aggcctgaca ttcatttgat ctatagccag atgaatcaga
     2461 ttggtttccc aatttttata gtttttaaaa cctttatgct gacaatttag agggaaagtg
     2521 tctgtttctt aacatgaaag aaaaagagga tagtgtaggt tcattgtttc ttctccctcc
     2581 ttcgtccaat tgaaattgat gtgaaaatga atttataaac ttttaaaatt agaatgtatc
     2641 agaaatagac atgcatttat agtttgatgt cttacttgat aggttactta cttttttctt
     2701 ttttgttttg ttgttttttg ttttttgttg tttttttttt ttgagacaga ttctcattct
     2761 gtcacccagg ctggagttca gtggcacatc tcggctctct gcaacctctg tcttctgagt
     2821 tcaagcaatt atcatgcctt ggcctcccaa gtagctggaa ttacaggcgc atgacaccac
     2881 acctggctaa tttttctgtt tttagtagag acagggtttt gccatgttgg ccaggctggt
     2941 cttgaactcc tgacctcaca tgatccgccc accttggcct cccaaagttc tgggattaca
     3001 ggtgtgagcc atcatgccca gcctatactt agaatttttt tttttttttt tttgagacgg
     3061 agtctcgctc tttctcccag gctggagtgc agtggcgcga tctcggctca ctgcaagctc
     3121 cgcctcctgg gttcacgcca ttctcctgcc tcagcctcct gagtaggtgg gactacaggc
     3181 gcccgccacc atgcctggct aatttttttg tatttttagt agagatgggg cttcaccgtg
     3241 ttagccagga tggtctcaat ctcctgacct cgtgatctgc ccgcctcggc ctcccaaagt
     3301 gctgggatta caggcttgag ccaccgcacc cggccgctag aatttttgaa gtatttgcaa
     3361 ctatgtactt tttgaaggaa aaaaaccttc attctcatgt cgctatgtag aatattcttc
     3421 atcattaagc agcaccataa ctatcatcta gtgattagaa ttttattttt ccataaaaat
     3481 atgaggcact gtttttgttt tggacaaaac tacacatttt tctttaaaga tttacaaact
     3541 cctatgtaat ttgaaagttg ctatactggg agtaatctga aaagcttaga aagttcattt
     3601 ccttttatat ttccatctta aatgtgctgc tttttctatt cgaagtttac aaagaaacaa
     3661 gtaaatggga tgtcgtgcat gtatgcacat gctcacacgt gtataaatca gtgtccattt
     3721 aaaaaatatt aacatttagg taaatagagt attacatatt atactcttta gatgatcaag
     3781 actctaatct gtgttgacac ttcagaattt attaaaagat cttcccttac ttttcagtaa
     3841 tttaattagt ttctttaagc ctgacataac gaggaggagc ccaaacaaca taatcaagtt
     3901 ttaccttggg aggaaaaaaa gttttacctg ctagaaagaa ttaataaaat attgctatac
     3961 attcacttag aaagttcttc tcttttccag tatgaacttg ctttcatttg tttggtagta
     4021 atcattcaat ttgaaaacat atgcacctca tgaatggcca cataactatg taataaggtt
     4081 ttatttctca gaaaaggtcc taatatttta ttggtttata gttttaagaa atttttcatg
     4141 ataatttgat atgggagaga ttaattttag tattgttgac attggtgggt ggatagctga
     4201 acttatctaa cttaggtgtc cactcttgct atataaaggt aatttgataa gtaacatgaa
     4261 accagtattt cgtagtcttt gctgccagag taagtgatgc aagatcttgc ttttaaagct
     4321 agagttaata ctgagatgca taatcaactg aaaagtggat tagttttttt ttttttttcc
     4381 ttttcaacat ttcttactct gaaaccatag ttgttactgc tcttctgggg gtggggtgag
     4441 tacttttaat aaaccagttg cattactgga aa
//
