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2024-03-29 16:31:33, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_194279               1088 bp    mRNA    linear   PRI 19-JUL-2013
DEFINITION  Homo sapiens iron-sulfur cluster assembly 2 homolog (S. cerevisiae)
            (ISCA2), transcript variant 1, mRNA.
ACCESSION   NM_194279 XM_058670
VERSION     NM_194279.3  GI:432134250
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 1088)
  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 1088)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 1088)
  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 1088)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am. J. Hum. Genet. 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX114918.1 and BX248252.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Dec 21, 2012 this sequence version replaced gi:160420327.
            
            Summary: The protein encoded by this gene is an A-type iron-sulfur
            cluster (ISC) protein found in mitochondria. The encoded protein
            appears to be involved in the maturation of mitochondrial
            iron-sulfur proteins. Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX248252.1, BQ068588.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 22323289; reported by
                                                  MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                BX114918.1         58-99
            43-1088             BX248252.1         1-1046
FEATURES             Location/Qualifiers
     source          1..1088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..1088
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /note="iron-sulfur cluster assembly 2 homolog (S.
                     cerevisiae)"
                     /db_xref="GeneID:122961"
                     /db_xref="HGNC:19857"
                     /db_xref="MIM:615317"
     exon            1..126
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /inference="alignment:Splign:1.39.8"
     variation       5
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182512647"
     variation       20
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:140219639"
     variation       50
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:186648323"
     CDS             56..520
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; iron-sulfur cluster assembly 2 homolog,
                     mitochondrial; HESB-like domain-containing protein 1"
                     /codon_start=1
                     /product="iron-sulfur cluster assembly 2 homolog,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_919255.2"
                     /db_xref="GI:160420328"
                     /db_xref="CCDS:CCDS32122.1"
                     /db_xref="GeneID:122961"
                     /db_xref="HGNC:19857"
                     /db_xref="MIM:615317"
                     /translation="
MAAAWGSSLTAATQRAVTPWPRGRLLTASLGPQARREASSSSPEAGEGQIRLTDSCVQRLLEITEGSEFLRLQVEGGGCSGFQYKFSLDTVINPDDRVFEQGGARVVVDSDSLAFVKGAQVDFSQELIRSSFQVLNNPQAQQGCSCGSSFSIKL
"
     transit_peptide 56..79
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="Mitochondrion (Potential); propagated from
                     UniProtKB/Swiss-Prot (Q86U28.2)"
     mat_peptide     80..517
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /product="Iron-sulfur cluster assembly 2 homolog,
                     mitochondrial"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86U28.2)"
     misc_feature    <203..514
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /note="Iron-sulphur cluster biosynthesis; Region:
                     Fe-S_biosyn; cl00400"
                     /db_xref="CDD:212213"
     variation       117
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372853525"
     exon            127..229
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /inference="alignment:Splign:1.39.8"
     variation       138
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371830968"
     variation       157
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:369516250"
     variation       184
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373588450"
     variation       185
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201157942"
     variation       206
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:17853112"
     exon            230..345
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /inference="alignment:Splign:1.39.8"
     variation       231
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145780483"
     variation       294
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200054853"
     variation       300
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201006924"
     variation       309
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148923908"
     variation       325
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199632894"
     exon            346..1088
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /inference="alignment:Splign:1.39.8"
     variation       368
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191915715"
     variation       400
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143682573"
     variation       406
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200583764"
     variation       412
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:184167807"
     variation       413
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200091735"
     variation       416
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201908228"
     variation       477
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:375133115"
     variation       539
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375097936"
     variation       542
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188369908"
     variation       548
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199945088"
     variation       643
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368876854"
     STS             707..841
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /standard_name="RH65075"
                     /db_xref="UniSTS:85120"
     variation       778
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146263066"
     variation       801
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:80341268"
     variation       809
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374977004"
     variation       824
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112917040"
     variation       837
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:192324488"
     polyA_site      890
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /note="The 3' most polyA site has not been determined.
                     This is the major polyA site."
     variation       991
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:184010437"
     variation       1050
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4903231"
     variation       1084
                     /gene="ISCA2"
                     /gene_synonym="c14_5557; HBLD1; ISA2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187194521"
ORIGIN      
cgaggccccgggtgagaaacgggggagacgcgaggggcggagcttgtggaggaagatggctgccgcctgggggtcgtccctaacggccgcgacgcagagagcggtcactccctggccgaggggcaggctcctcacggcctccctgggaccccaggcgcgtcgggaggcgtcgtcctccagccccgaggccggcgaagggcagatccgcctcacagacagttgcgtccagaggcttttggaaatcaccgaagggtcagaattcctcaggctgcaagtggagggaggtggatgctccggattccaatacaaattttcactggatacagttatcaaccccgacgacagggtatttgaacagggtggggcaagagtggtggttgactctgatagcttggccttcgtgaaaggggcccaggtggacttcagccaagaactgatccgaagctcatttcaagtgttgaacaatcctcaagcacagcaaggctgctcctgtgggtcatctttctctatcaaactttgatgtgatgactggtgactctgggattgtcaccagttgtaccaatttgaagaacctggaattagtagaattctagaagtttacttctaatcatgtccctctcaattttatttcccgcagtccaggagtgttatgttttgccactattattttcagaatgtgaagattttactcttggcttaatttttccctccactcagtgctaaggctgagcctccagatgctgttacctcagatttaatcactggttgaaactccgtataatctgtagagcctccatggctctaaaatttggaattaacttctcttgccttaagagctgcttgtacatatgtggatagctatgtataaaagcttcattttaaagaaggttcttattgtgttgtggatcagggtcacagattgggtagcttggacaccagttattagaggatgagaaaagtaaatgaaatgttctctttttcacttcaccctgccagaatgtgccacttgacttatctttattgtctatgcaacccatttgccacttcctgtttgataggacagatacattttactctcatgctcgtgg
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:122961 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
            GeneID:122961 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:122961 -> Molecular function: GO:0051536 [iron-sulfur cluster binding] evidence: IEA
            GeneID:122961 -> Biological process: GO:0016226 [iron-sulfur cluster assembly] evidence: IEA
            GeneID:122961 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA

by @meso_cacase at DBCLS
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