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2025-05-09 19:25:55, 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 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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