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2024-03-28 17:12:27, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_030940               2012 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens iron-sulfur cluster assembly 1 homolog (S. cerevisiae)
            (ISCA1), mRNA.
ACCESSION   NM_030940
VERSION     NM_030940.3  GI:52426767
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 2012)
  AUTHORS   Sheftel,A.D., Wilbrecht,C., Stehling,O., Niggemeyer,B.,
            Elsasser,H.P., Muhlenhoff,U. and Lill,R.
  TITLE     The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are
            required for [4Fe-4S] protein maturation
  JOURNAL   Mol. Biol. Cell 23 (7), 1157-1166 (2012)
   PUBMED   22323289
  REMARK    GeneRIF: ISCA1, ISCA2, and IBA57 were depleted by RNA interference.
            Depleted cells contained massively swollen and enlarged
            mitochondria that were virtually devoid of cristae membranes,
            demonstrating the importance of these proteins for mitochondrial
            biogenesis.
REFERENCE   2  (bases 1 to 2012)
  AUTHORS   Lu,J., Bitoun,J.P., Tan,G., Wang,W., Min,W. and Ding,H.
  TITLE     Iron-binding activity of human iron-sulfur cluster assembly protein
            hIscA1
  JOURNAL   Biochem. J. 428 (1), 125-131 (2010)
   PUBMED   20302570
  REMARK    GeneRIF: Iron-binding activity of human iron-sulfur cluster
            assembly protein hIscA1
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2012)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS ONE 5 (9), E12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2012)
  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   5  (bases 1 to 2012)
  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   6  (bases 1 to 2012)
  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   7  (bases 1 to 2012)
  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
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 Sep 22, 2004 this sequence version replaced gi:24475709.
            
            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].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC002675.2, AK225937.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-46                BG772866.1         6-51
            47-1202             BC002675.2         1-1156
            1203-1939           BC071621.1         1137-1873
            1940-1949           AI436792.1         55-64               c
            1950-2012           AA745613.1         1-63                c
FEATURES             Location/Qualifiers
     source          1..2012
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.33"
     gene            1..2012
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /note="iron-sulfur cluster assembly 1 homolog (S.
                     cerevisiae)"
                     /db_xref="GeneID:81689"
                     /db_xref="HGNC:28660"
                     /db_xref="HPRD:17091"
                     /db_xref="MIM:611006"
     exon            1..198
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /inference="alignment:Splign:1.39.8"
     CDS             118..507
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /EC_number="2.7.7.52"
                     /note="HESB like domain containing 2; iron-sulfur cluster
                     assembly 1 homolog, mitochondrial; iron sulfur assembly
                     protein IscA; 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="GI:52426768"
                     /db_xref="CCDS:CCDS35056.1"
                     /db_xref="GeneID:81689"
                     /db_xref="HGNC:28660"
                     /db_xref="HPRD:17091"
                     /db_xref="MIM:611006"
                     /translation="
MSASLVRATVRAVSKRKLQPTRAALTLTPSAVNKIKQLLKDKPEHVGVKVGVRTRGCNGLSYTLEYTKTKGDSDEEVIQDGVRVFIEKKAQLTLLGTEMDYVEDKLSSEFVFNNPNIKGTCGCGESFNI
"
     transit_peptide 118..153
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Mitochondrion (Potential); propagated from
                     UniProtKB/Swiss-Prot (Q9BUE6.1)"
     mat_peptide     154..504
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /product="Iron-sulfur cluster assembly 1 homolog,
                     mitochondrial"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BUE6.1)"
     misc_feature    193..504
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /note="Iron-sulfur cluster assembly accessory protein;
                     Region: TIGR00049"
                     /db_xref="CDD:161681"
     exon            199..252
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /inference="alignment:Splign:1.39.8"
     exon            253..358
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /inference="alignment:Splign:1.39.8"
     exon            359..2004
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    750..755
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
     polyA_site      783
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /experiment="experimental evidence, no additional details
                     recorded"
     variation       1508
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:9907"
     STS             1863..1968
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /standard_name="G34941"
                     /db_xref="UniSTS:117653"
     STS             1863..1968
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /standard_name="RH66922"
                     /db_xref="UniSTS:88376"
     variation       1940
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1059144"
     polyA_signal    1970..1975
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
     polyA_site      2004
                     /gene="ISCA1"
                     /gene_synonym="HBLD2; hIscA; ISA1; RP11-507D14.2"
                     /experiment="experimental evidence, no additional details
                     recorded"
ORIGIN      
aggactgagggcgccgtgcgccgaagcttgtggcgtcaatgcgcccgccgtgtccatggagagaagctgaggcggccgaccttcggcccgaggcaccggggcgccgggacggcgaagatgtcggcttccttagtccgggcaactgtccgggctgtgagcaagaggaagctgcagcccacccgggcagccctcaccctgacaccttcagcagtaaacaagataaaacaacttcttaaagataagcctgagcatgtaggtgtaaaagttggtgtccgaaccaggggctgtaatggcctttcttatactctagaatatacaaagacaaaaggagattctgatgaagaagttattcaagatggagtcagagtattcatcgaaaagaaagcacagctaacacttttaggaacagaaatggactatgttgaagacaaattatccagtgagtttgtgttcaataacccaaacatcaaagggacttgtggctgtggagaaagctttaatatttgaaatctcaggactcttctggccgtaggttccaggaaagctcgtggaagctttggggctcactgcagaaatcatgtgactgtcacgtgctggaaaataaagtgatacatcttgaaaatgaatccagtgtgttggattccagaagaaatgatatttatattctctataggggacagaaaatgagaagccatcactctttttggatcatttaggtctcttgtatcctttgttttagaaccagtttcattaaagttgccttcctgggcacctgtttatccatttcctgaactgtgtgcactccttagatcgctattgatggcttgatcatccctcagcatttctcccaaccagatcggtgactcctaaaatctgagacaggacatcgtgactgctggtagtaatatggtggtgcattgttttttccacccaaacttaacatagcctttttatacatttttatgaaaaatttcattgtcagctgcctcactgcatactctttaatagtaccaggcaaagattttcttcaactatagtacagattagttctgagtgatggtatcaaaaggtgagaaagacgtcatccgcctttttttaatccatttcttttgccaccctatatgtctgttcagagatgggctctcaagctgactttgattcttttagttgagaagtctcttaaagccatctagcccacctccatcaattccctatgtgaggaagcaaaaccccagggaagccaaagggctcctgtccaccctgacaccacaggccgggggagagtagggactctacccccctctccccttgtaggtgacacatgctctgccctctgaggcagtcagcgaaggcaaatggtctgacttctttatgtggtcaacattttgatagaatttctttataatttgatagagattatattatttttattttattttgagtgggaagaattttaaaacctttttatgtcaattaccatcttgtttctttcacctttgaaacaatggtttgtagcagagatgacattgtagcaacccagaattatgcttttggaatgtggtcctcactgtacaggagaatgtgtaatcttttgttaaaattcccagtgtgcatacattttctggttcctcggtccagttgctaaagttcttagtattttagcctaacatatttatcaccaacttttctttaaaagtgttccttttgtcacttagttactgattttcctgggtttgacataagtattctatgagatgatatatatgctttttttgaaagctgattctcatgaattcaagtagctgagttcctttatgtttcgtttattcactaaagtagctgacacaaaacacaccaaaacctagagcggtagttttatgtaaatgctcatgagtttgtatcaataatataattgttgatccacttataattcgtgcaacactgtatgtatgtagagattgagttgtcaattaaaaaaaatgtggcctctttgtgatcataaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:81689 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
            GeneID:81689 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:81689 -> Molecular function: GO:0051536 [iron-sulfur cluster binding] evidence: IEA
            GeneID:81689 -> Biological process: GO:0016226 [iron-sulfur cluster assembly] evidence: IEA
            GeneID:81689 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_112202 -> EC 2.7.7.52

by @meso_cacase at DBCLS
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