LOCUS       NM_172002               1106 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens HscB mitochondrial iron-sulfur cluster cochaperone
            (HSCB), transcript variant 1, mRNA.
ACCESSION   NM_172002
VERSION     NM_172002.5
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 1106)
  AUTHORS   Liu,G., Hou,Y., Jin,X., Zhang,Y., Sun,C., Huang,C., Ren,Y., Gao,J.,
            Wang,X. and Jiang,X.
  TITLE     PI3K/HSCB axis facilitates FOG1 nuclear translocation to promote
            erythropoiesis and megakaryopoiesis
  JOURNAL   Elife 13, 95815 (2024)
   PUBMED   38757931
  REMARK    GeneRIF: PI3K/HSCB axis facilitates FOG1 nuclear translocation to
            promote erythropoiesis and megakaryopoiesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1106)
  AUTHORS   Coto,A.L.S., Pereira,A.A., Oliveira,S.D., Moritz,M.N.O., Franco da
            Rocha,A.M., Dores-Silva,P.R., da Silva,N.S.M., de Araujo
            Nogueira,A.R., Gava,L.M., Seraphim,T.V. and Borges,J.C.
  TITLE     Structural characterization of the human DjC20/HscB cochaperone in
            solution
  JOURNAL   Biochim Biophys Acta Proteins Proteom 1872 (1), 140970 (2024)
   PUBMED   37871810
  REMARK    GeneRIF: Structural characterization of the human DjC20/HscB
            cochaperone in solution.
REFERENCE   3  (bases 1 to 1106)
  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 1106)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1106)
  AUTHORS   Kim,K.S., Maio,N., Singh,A. and Rouault,T.A.
  TITLE     Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis
            with the CIAO1-mediated transfer to recipients
  JOURNAL   Hum Mol Genet 27 (5), 837-852 (2018)
   PUBMED   29309586
  REMARK    GeneRIF: Cytosolic HSC20 is indispensable for cytoplasmic Fe-S
            assembly and delivery, which is initiated de novo in the cytosol.
REFERENCE   6  (bases 1 to 1106)
  AUTHORS   Bitto,E., Bingman,C.A., Bittova,L., Kondrashov,D.A., Bannen,R.M.,
            Fox,B.G., Markley,J.L. and Phillips,G.N. Jr.
  TITLE     Structure of human J-type co-chaperone HscB reveals a tetracysteine
            metal-binding domain
  JOURNAL   J Biol Chem 283 (44), 30184-30192 (2008)
   PUBMED   18713742
  REMARK    GeneRIF: structural analysis of human J-type co-chaperone HscB
            reveals a tetracysteine metal-binding domain
REFERENCE   7  (bases 1 to 1106)
  AUTHORS   Qiu,X.B., Shao,Y.M., Miao,S. and Wang,L.
  TITLE     The diversity of the DnaJ/Hsp40 family, the crucial partners for
            Hsp70 chaperones
  JOURNAL   Cell Mol Life Sci 63 (22), 2560-2570 (2006)
   PUBMED   16952052
  REMARK    Review article
REFERENCE   8  (bases 1 to 1106)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   9  (bases 1 to 1106)
  AUTHORS   Sun,G., Gargus,J.J., Ta,D.T. and Vickery,L.E.
  TITLE     Identification of a novel candidate gene in the iron-sulfur pathway
            implicated in ataxia-susceptibility: human gene encoding HscB, a
            J-type co-chaperone
  JOURNAL   J Hum Genet 48 (8), 415-419 (2003)
   PUBMED   12938016
REFERENCE   10 (bases 1 to 1106)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000004.1.
            
            On Nov 22, 2018 this sequence version replaced NM_172002.4.
            
            Summary: This gene encodes a DnaJ-type co-chaperone and member of
            the heat shock cognate B (HscB) family of proteins. The encoded
            protein plays a role in the synthesis of iron-sulfur clusters,
            protein cofactors that are involved in the redox reactions of
            mitochondrial electron transport and other processes. Cells in
            which this gene is knocked down exhibit reduced activity of
            iron-sulfur cluster-dependent enzymes including succinate
            dehydrogenase and aconitase. The encoded protein may stimulate the
            ATPase activity of the mitochondrial stress-70 protein. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: BC000004.1, SRR1163655.137764.1
                                           [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                 :: ENST00000216027.8/
                                                  ENSP00000216027.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1106              BC000004.1         17-1122
FEATURES             Location/Qualifiers
     source          1..1106
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..1106
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /note="HscB mitochondrial iron-sulfur cluster cochaperone"
                     /db_xref="GeneID:150274"
                     /db_xref="HGNC:HGNC:28913"
                     /db_xref="MIM:608142"
     exon            1..293
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..765
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; DnaJ (Hsp40) homolog, subfamily C, member 20;
                     iron-sulfur cluster co-chaperone protein HscB,
                     mitochondrial; J-type co-chaperone HSC20; HscB iron-sulfur
                     cluster co-chaperone homolog; HscB mitochondrial
                     iron-sulfur cluster co-chaperone; epididymis secretory
                     sperm binding protein"
                     /codon_start=1
                     /product="iron-sulfur cluster co-chaperone protein HscB
                     isoform 1 precursor"
                     /protein_id="NP_741999.3"
                     /db_xref="CCDS:CCDS13845.1"
                     /db_xref="GeneID:150274"
                     /db_xref="HGNC:HGNC:28913"
                     /db_xref="MIM:608142"
                     /translation="MWRGRAGALLRVWGFWPTGVPRRRPLSCDAASQAGSNYPRCWNC
                     GGPWGPGREDRFFCPQCRALQAPDPTRDYFSLMDCNRSFRVDTAKLQHRYQQLQRLVH
                     PDFFSQRSQTEKDFSEKHSTLVNDAYKTLLAPLSRGLYLLKLHGIEIPERTDYEMDRQ
                     FLIEIMEINEKLAEAESEAAMKEIESIVKAKQKEFTDNVSSAFEQDDFEEAKEILTKM
                     RYFSNIEEKIKLKKIPL"
     exon            294..390
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /inference="alignment:Splign:2.1.0"
     exon            391..480
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /inference="alignment:Splign:2.1.0"
     exon            481..625
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /inference="alignment:Splign:2.1.0"
     exon            626..673
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /inference="alignment:Splign:2.1.0"
     exon            674..1106
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      790..795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /note="hexamer: AATAAA"
     polyA_site      809
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /note="major polyA site"
     regulatory      1100..1105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /note="hexamer: AATAAA"
     polyA_site      1106
                     /gene="HSCB"
                     /gene_synonym="DNAJC20; HSC20; JAC1; SIDBA5"
                     /note="major polyA site"
ORIGIN      
        1 agacgctctc tttgcttttc cccacgagtg accacggcta gataggccgc cggccagatg
       61 tggcggggga gagccggggc tttgctccgg gtgtgggggt tttggccgac aggggttccc
      121 agaaggagac cgctaagctg cgatgctgcg tcgcaggcgg gaagcaatta tccccgctgt
      181 tggaactgcg gcggcccatg gggccccggg cgggaggaca ggttcttctg cccacagtgc
      241 cgagcgctgc aggcacctga ccccactcga gactacttca gccttatgga ctgcaaccgt
      301 tccttcagag ttgatacagc gaagctccag cacaggtacc agcaactgca gcgtcttgtc
      361 cacccagatt tcttcagcca gaggtctcag actgaaaagg acttctcaga gaagcattcg
      421 accctggtga atgatgccta taagaccctc ctggcccccc tgagcagagg actgtacctt
      481 ctaaagctcc atggaataga gattcctgaa aggacagatt atgaaatgga caggcaattc
      541 ctcatagaaa taatggaaat caatgaaaaa ctcgcagaag ctgaaagtga agctgccatg
      601 aaagagattg aatccattgt caaagctaaa cagaaagaat ttactgacaa tgtgagcagt
      661 gcttttgaac aagatgactt tgaagaagcc aaggaaattt tgacaaagat gagatacttt
      721 tcaaatatag aagaaaagat caagttaaag aagattcccc tttaattgtg gatagtttaa
      781 agtttaaaaa ataaagttct tgctgggcac agtggctcac acctgtaatc ccagcacttt
      841 gggaggctga ggtgggtgga tgacaaggtc aggagttcaa gaccagcttg gccaacatag
      901 tgaaaccccg tctctgctga aaatacaaaa attagccggg catggtggcg cgtgcctgta
      961 atcccagcta cttggtaggc cgaggcagga gaatcgctta aacccgtgag gtggaggttg
     1021 cagtgagcag agatcacgca actgcactcc agcttgggca acagagtgag acttaatctt
     1081 gaaaaataaa taaatgaaaa ataaaa
//
