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2025-05-09 19:29:17, 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 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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