LOCUS       NM_030940               1967 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens iron-sulfur cluster assembly 1 (ISCA1), mRNA; nuclear
            gene for mitochondrial product.
ACCESSION   NM_030940
VERSION     NM_030940.4
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 1967)
  AUTHORS   Du,J., Huang,Z., Li,Y., Ren,X., Zhou,C., Liu,R., Zhang,P., Lei,G.,
            Lyu,J., Li,J. and Tan,G.
  TITLE     Copper exerts cytotoxicity through inhibition of iron-sulfur
            cluster biogenesis on ISCA1/ISCA2/ISCU assembly proteins
  JOURNAL   Free Radic Biol Med 204, 359-373 (2023)
   PUBMED   37225108
  REMARK    GeneRIF: Copper exerts cytotoxicity through inhibition of
            iron-sulfur cluster biogenesis on ISCA1/ISCA2/ISCU assembly
            proteins.
REFERENCE   2  (bases 1 to 1967)
  AUTHORS   Zhou,R., Peng,N. and Li,W.
  TITLE     Identification of ISCA1 as novel immunological and prognostic
            biomarker for bladder cancer
  JOURNAL   Front Immunol 13, 975503 (2022)
   PUBMED   36072584
  REMARK    GeneRIF: Identification of ISCA1 as novel immunological and
            prognostic biomarker for bladder cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1967)
  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 1967)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1967)
  AUTHORS   Suraci,D., Saudino,G., Nasta,V., Ciofi-Baffoni,S. and Banci,L.
  TITLE     ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human
            Mitochondrial [4Fe-4S] Proteins
  JOURNAL   J Mol Biol 433 (10), 166924 (2021)
   PUBMED   33711344
  REMARK    GeneRIF: ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of
            Human Mitochondrial [4Fe-4S] Proteins.
REFERENCE   6  (bases 1 to 1967)
  AUTHORS   Song,D., Tu,Z. and Lee,F.S.
  TITLE     Human ISCA1 interacts with IOP1/NARFL and functions in both
            cytosolic and mitochondrial iron-sulfur protein biogenesis
  JOURNAL   J Biol Chem 284 (51), 35297-35307 (2009)
   PUBMED   19864422
  REMARK    GeneRIF: human IscA1 plays an important role in both mitochondrial
            and cytosolic iron-sulfur cluster biogenesis, and a notable
            component of the latter is the interaction between IscA1 and IOP1.
REFERENCE   7  (bases 1 to 1967)
  AUTHORS   Nilsson,R., Schultz,I.J., Pierce,E.L., Soltis,K.A.,
            Naranuntarat,A., Ward,D.M., Baughman,J.M., Paradkar,P.N.,
            Kingsley,P.D., Culotta,V.C., Kaplan,J., Palis,J., Paw,B.H. and
            Mootha,V.K.
  TITLE     Discovery of genes essential for heme biosynthesis through
            large-scale gene expression analysis
  JOURNAL   Cell Metab 10 (2), 119-130 (2009)
   PUBMED   19656490
  REMARK    GeneRIF: Required for functional heme biosynthesis in erythroid
            cells.
REFERENCE   8  (bases 1 to 1967)
  AUTHORS   Cozar-Castellano,I., del Valle Machargo,M., Trujillo,E.,
            Arteaga,M.F., Gonzalez,T., Martin-Vasallo,P. and Avila,J.
  TITLE     hIscA: a protein implicated in the biogenesis of iron-sulfur
            clusters
  JOURNAL   Biochim Biophys Acta 1700 (2), 179-188 (2004)
   PUBMED   15262227
  REMARK    GeneRIF: screening a human brain cDNA expression library with serum
            from a patient suffering from the autoimmune Sjogren's syndrome
            yielded a gene product called hIscA implicated in iron-sulfur
            cluster biogenesis
REFERENCE   9  (bases 1 to 1967)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   10 (bases 1 to 1967)
  AUTHORS   Shukla,A., Narayanan,D.L., Kaur,P. and Girisha,K.M.
  TITLE     ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31580634
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG772866.1, BC002675.2, BC071621.1, AI436792.1 and AA745613.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030940.3.
            
            Summary: ISCA1 is a mitochondrial protein involved in the
            biogenesis and assembly of iron-sulfur clusters, which play a role
            in electron-transfer reactions (Cozar-Castellano et al., 2004
            [PubMed 15262227]).[supplied by OMIM, Mar 2008].
            
            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 :: AK225937.1, SRR3476690.915749.1
                                           [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                 :: ENST00000375991.9/
                                                  ENSP00000365159.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BG772866.1         43-51
            10-1165             BC002675.2         1-1156
            1166-1902           BC071621.1         1137-1873
            1903-1912           AI436792.1         55-64               c
            1913-1967           AA745613.1         9-63                c
FEATURES             Location/Qualifiers
     source          1..1967
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.33"
     gene            1..1967
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /note="iron-sulfur cluster assembly 1"
                     /db_xref="GeneID:81689"
                     /db_xref="HGNC:HGNC:28660"
                     /db_xref="MIM:611006"
     exon            1..161
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..470
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /EC_number="2.7.7.52"
                     /note="HESB like domain containing 2; iron-sulfur cluster
                     assembly 1 homolog, mitochondrial; HESB-like
                     domain-containing protein 2; iron-sulfur assembly protein
                     IscA"
                     /codon_start=1
                     /product="iron-sulfur cluster assembly 1 homolog,
                     mitochondrial precursor"
                     /protein_id="NP_112202.2"
                     /db_xref="CCDS:CCDS35056.1"
                     /db_xref="GeneID:81689"
                     /db_xref="HGNC:HGNC:28660"
                     /db_xref="MIM:611006"
                     /translation="MSASLVRATVRAVSKRKLQPTRAALTLTPSAVNKIKQLLKDKPE
                     HVGVKVGVRTRGCNGLSYTLEYTKTKGDSDEEVIQDGVRVFIEKKAQLTLLGTEMDYV
                     EDKLSSEFVFNNPNIKGTCGCGESFNI"
     exon            162..215
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /inference="alignment:Splign:2.1.0"
     exon            216..321
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /inference="alignment:Splign:2.1.0"
     exon            322..1967
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      713..718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /note="hexamer: ATTAAA"
     polyA_site      746
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
     regulatory      1933..1938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /note="hexamer: ATTAAA"
     polyA_site      1967
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; hIscA1; ISA1; MMDS5"
                     /note="major polyA site"
ORIGIN      
        1 aatgcgcccg ccgtgtccat ggagagaagc tgaggcggcc gaccttcggc ccgaggcacc
       61 ggggcgccgg gacggcgaag atgtcggctt ccttagtccg ggcaactgtc cgggctgtga
      121 gcaagaggaa gctgcagccc acccgggcag ccctcaccct gacaccttca gcagtaaaca
      181 agataaaaca acttcttaaa gataagcctg agcatgtagg tgtaaaagtt ggtgtccgaa
      241 ccaggggctg taatggcctt tcttatactc tagaatatac aaagacaaaa ggagattctg
      301 atgaagaagt tattcaagat ggagtcagag tattcatcga aaagaaagca cagctaacac
      361 ttttaggaac agaaatggac tatgttgaag acaaattatc cagtgagttt gtgttcaata
      421 acccaaacat caaagggact tgtggctgtg gagaaagctt taatatttga aatctcagga
      481 ctcttctggc cgtaggttcc aggaaagctc gtggaagctt tggggctcac tgcagaaatc
      541 atgtgactgt cacgtgctgg aaaataaagt gatacatctt gaaaatgaat ccagtgtgtt
      601 ggattccaga agaaatgata tttatattct ctatagggga cagaaaatga gaagccatca
      661 ctctttttgg atcatttagg tctcttgtat cctttgtttt agaaccagtt tcattaaagt
      721 tgccttcctg ggcacctgtt tatccatttc ctgaactgtg tgcactcctt agatcgctat
      781 tgatggcttg atcatccctc agcatttctc ccaaccagat cggtgactcc taaaatctga
      841 gacaggacat cgtgactgct ggtagtaata tggtggtgca ttgttttttc cacccaaact
      901 taacatagcc tttttataca tttttatgaa aaatttcatt gtcagctgcc tcactgcata
      961 ctctttaata gtaccaggca aagattttct tcaactatag tacagattag ttctgagtga
     1021 tggtatcaaa aggtgagaaa gacgtcatcc gccttttttt aatccatttc ttttgccacc
     1081 ctatatgtct gttcagagat gggctctcaa gctgactttg attcttttag ttgagaagtc
     1141 tcttaaagcc atctagccca cctccatcaa ttccctatgt gaggaagcaa aaccccaggg
     1201 aagccaaagg gctcctgtcc accctgacac cacaggccgg gggagagtag ggactctacc
     1261 cccctctccc cttgtaggtg acacatgctc tgccctctga ggcagtcagc gaaggcaaat
     1321 ggtctgactt ctttatgtgg tcaacatttt gatagaattt ctttataatt tgatagagat
     1381 tatattattt ttattttatt ttgagtggga agaattttaa aaccttttta tgtcaattac
     1441 catcttgttt ctttcacctt tgaaacaatg gtttgtagca gagatgacat tgtagcaacc
     1501 cagaattatg cttttggaat gtggtcctca ctgtacagga gaatgtgtaa tcttttgtta
     1561 aaattcccag tgtgcataca ttttctggtt cctcggtcca gttgctaaag ttcttagtat
     1621 tttagcctaa catatttatc accaactttt ctttaaaagt gttccttttg tcacttagtt
     1681 actgattttc ctgggtttga cataagtatt ctatgagatg atatatatgc tttttttgaa
     1741 agctgattct catgaattca agtagctgag ttcctttatg tttcgtttat tcactaaagt
     1801 agctgacaca aaacacacca aaacctagag cggtagtttt atgtaaatgc tcatgagttt
     1861 gtatcaataa tataattgtt gatccactta taattcgtgc aacactgtat gtatgtagag
     1921 attgagttgt caattaaaaa aaatgtggcc tctttgtgat cataaaa
//
