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ISCA1 Gene

protein-coding GIFtS: 53
GCID: GC09M088879

Iron-Sulfur Cluster Assembly 1

(Previous names: HESB like domain containing 2, iron-sulfur cluster assembly...)
(Previous symbol: HBLD2)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Iron-Sulfur Cluster Assembly 1¹ ²		Iron-Sulfur Cluster Assembly 1 Homolog (S. Cerevisiae)¹
HBLD2¹ ² ³ ⁵		ISA1²
HESB Like Domain Containing 2¹ ²		Iron Sulfur Assembly Protein IscA²
Iron-Sulfur Assembly Protein IscA² ³		Iron-Sulfur Cluster Assembly 1 Homolog, Mitochondrial²
hIscA² ³		HISCA⁵
HESB-Like Domain-Containing Protein 2² ³

External Ids:	HGNC: 28660¹	Entrez Gene: 81689²	Ensembl: ENSG00000135070⁷	OMIM: 611006⁵	UniProtKB: Q9BUE6³

Export aliases for ISCA1 gene to outside databases

Previous GC identifers: GC09M088070 GC09M058702

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ISCA1 Gene:

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)

GeneCards Summary for ISCA1 Gene:

ISCA1 (iron-sulfur cluster assembly 1) is a protein-coding gene. GO annotations related to this gene include iron-sulfur cluster binding and structural molecule activity.

UniProtKB/Swiss-Prot: ISCA1_HUMAN, Q9BUE6

Function: Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster

assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly

Gene Wiki entry for ISCA1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000009.11 NC_018920.2 NT_008470.20

Regulatory elements:

Regulatory transcription factor binding sites in the ISCA1 gene promoter:
HOXA9 HOXA9B NF-1/L NF-1 AML1a Lmo2 HEN1 FOXO4 Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ISCA1 promoter sequence

Search Chromatin IP Primers for ISCA1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ISCA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.33 Ensembl cytogenetic band: 9q21.33 HGNC cytogenetic band: 9q22.1

ISCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISCA1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M088879: view genomic region (about GC identifiers)

Start:	88,879,461 bp from pter	End:	88,897,676 bp from pter
Size:	18,216 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ISCA1_HUMAN, Q9BUE6 (See protein sequence)

Recommended Name: Iron-sulfur cluster assembly 1 homolog, mitochondrial precursor

Size: 129 amino acids; 14179 Da

Sequence caution: Sequence=AAG59854.1; Type=Erroneous initiation; Sequence=CAD39021.1; Type=Erroneous initiation;

Secondary accessions: B3KP34 Q8ND75 Q9BZR2

Explore the universe of human proteins at neXtProt for ISCA1: NX_Q9BUE6

Explore proteomics data for ISCA1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See ISCA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_112202.2

ENSEMBL proteins:

ENSP00000365159 ENSP00000339003 ENSP00000365157 ENSP00000409332

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR016092 FeS_cluster_insertion

IPR017870 FeS_cluster_insertion_CS

IPR000361 FeS_biogenesis

Graphical View of Domain Structure for InterPro Entry Q9BUE6

ProtoNet protein and cluster: Q9BUE6

1 Blocks protein domain: IPB000361 Protein of unknown function

UniProtKB/Swiss-Prot: ISCA1_HUMAN, Q9BUE6

Similarity: Belongs to the HesB/IscA family

Find genes that share domains with ISCA1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ISCA1_HUMAN, Q9BUE6

Function: Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster

assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	IEA	--
GO:0046872	metal ion binding	IEA	--
GO:0051536	iron-sulfur cluster binding	IEA	--

Find genes that share ontologies with ISCA1 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for ISCA1:

Decreased viability of wild-ty

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for ISCA1

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

ISCA1_HUMAN, Q9BUE6: Mitochondrion

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	2
nucleus	1

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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--

Find genes that share ontologies with ISCA1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for ISCA1
Interactions:

Search GeneGlobe Interaction Network for ISCA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ISCA1 (Q9BUE6^{2, 3} ENSP00000365159⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 279)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
EIF3L	Q9Y262³	I2D: score=5
RAE1	P78406³	I2D: score=5
RPS20	P60866³	I2D: score=5
ZNF800	Q2TB10³	I2D: score=5

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Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016226	iron-sulfur cluster assembly	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ISCA1

1 HMDB Compound for ISCA1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Iron	Armco iron (see all 19)	7439-89-6	--

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ISCA1 gene:

NM_030940.3

Unigene Cluster for ISCA1:

Iron-sulfur cluster assembly 1 homolog (S. cerevisiae)

Hs.449291 [show with all ESTs]

Unigene Representative Sequence: NM_030940

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000375991(uc004aop.3) ENST00000311534 ENST00000326094 ENST00000452279

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Additional mRNA sequence:

AF038186.1 AF284752.1 AK055643.1 AK225937.1 AK296093.1 AL834356.1 AY015642.1 BC002675.2

BC053900.1 BC071621.1

16 DOTS entries:

DT.100692121 DT.100786531 DT.40268978 DT.121208267 DT.121208295 DT.100786525 DT.120805290 DT.121208257

DT.100681414 DT.91738680 DT.91743709 DT.91852780 DT.91983379 DT.121208229 DT.40107881 DT.91809974

Selected AceView cDNA sequences (see all 307):

BM910106 AA781832 CB215892 BQ447222 AA805549 AW069469 AY015642 BM127834

BI521583 AI633528 BU150683 BE891206 BM452443 BG259912 CR616889 CR604050

AI344016 CA391257 BM909090 BP337954 AA742171 NM_030940 AW105378 BU678966

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for ISCA1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b
SP1:
SP2:

ECgene alternative splicing isoforms for ISCA1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ISCA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGTTTGTATC

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ISCA1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Brain (Nervous System) fully expand to see all 2 entries
Fourth Ventricle

ISCA1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ISCA1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.449291

UniProtKB/Swiss-Prot: ISCA1_HUMAN, Q9BUE6

Tissue specificity: Detected in cerebellum, kidney and heart

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ISCA1 gene from Selected species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Isca1^{1 , 5}	iron-sulfur cluster assembly 1 homolog (S. cerevisiae)^{1, 5}	87.08(n)¹ 96.9(a)¹		13 (31.88 cM)⁵ 69046¹ NM_026921.4¹ NP_081197.1¹ 59755409⁵
chicken (Gallus gallus)	Aves	ISCA1¹	iron-sulfur cluster assembly 1 homolog (S. cerevisiae)	83.46(n) 93.02(a)		427463 NM_001271936.1 NP_001258865.1
lizard (Anolis carolinensis)	Reptilia	ISCA1⁶	iron-sulfur cluster assembly 1	91(a)	1 ↔ 1	2(41747560-41759185)
African clawed frog (Xenopus laevis)	Amphibia	Xl.9646²	Xenopus laevis transcribed sequences	77.99(n)		BJ615813.1
zebrafish (Danio rerio)	Actinopterygii	isca1¹	iron-sulfur cluster assembly 1	70.28(n) 84.5(a)		573999 NM_001025178.2 NP_001020349.1
fruit fly (Drosophila melanogaster)	Insecta	l(1)G0136¹	lethal (1) G0136	64.48(n) 77.87(a)		32513 NM_132834.2 NP_573062.1
worm (Caenorhabditis elegans)	Secernentea	CELE_Y39B6A.3¹	CELE_Y39B6A.3	59.88(n) 67.26(a)		180262 NM_171606.4 NP_741696.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ISA1⁶	Protein required for maturation of mitochondrial [...	24(a)	1 ↔ 1	XII(87403-88155) YLL027W
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G16710¹	AT2G16710	50.81(n) 50.81(a)		816172 NM_001202607.1 NP_001189536.1
rice (Oryza sativa)	Liliopsida	Os01g0105800¹	Os01g0105800	55.56(n) 54.47(a)		9272545 NM_001185190.1 NP_001172119.1

ENSEMBL Gene Tree for ISCA1 (if available)
TreeFam Gene Tree for ISCA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ISCA1 gene

1 SIMAP similar gene for ISCA1 using alignment to 4 protein entries: ISCA1_HUMAN (see all proteins):

ISCA2

Find genes that share paralogs with ISCA1 About GenesLikeMe

Selected Pseudogenes.org Pseudogenes for ISCA1 (see all 11)
PGOHUM00000246758 PGOHUM00000248948 PGOHUM00000237440 PGOHUM00000234196 PGOHUM00000234234

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs62573369^1,2	C	--	88878971(+)	`ACACTT/CACCAT`	1	--	ds500¹		3		NA EA	242
rs138097297^1,2		--	88878988(+)	`CGATGC/GTCTTC`	1	--	ds500¹		0	--	--	--	--
rs141138894^1,2	C	--	88878993(+)	`CTCTTC/TGCTGG`	1	--	ds500¹		0	--	--	--	--
rs150127606^1,2		--	88879081(+)	`AGTCAA/GTGCTC`	1	--	ds500¹		0	--	--	--	--
rs190581166^1,2		--	88879188(+)	`GCTCTC/TGTCCT`	1	--	ds500¹		0	--	--	--	--
rs182920477^1,2		--	88879213(+)	`CCTGCC/TTGGGG`	1	--	ds500¹		0	--	--	--	--
rs116835846^1,2	F	--	88879241(+)	`GGGAAC/TAAGGA`	1	--	ds500¹		1		WA	118
rs1059144^1,2	C,F,H	--	88879525(-)	`TGCAAT/CACTGT`	1	--	ut3¹ ese³		9		NA WA CSA	141
rs138592911^1,2		--	88879667(+)	`GCTACG/TTGAAT`	1	--	ut3¹		0	--	--	--	--
rs149307688^1,2	C	--	88879704(+)	`CATATA/GTATCA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ISCA1 (88879461 - 88897676 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for ISCA1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv893536	CNV	Gain	21882294

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611006 OMIM disorders: --

Find genes that share disorders with ISCA1 About GenesLikeMe

Genetic Association Database (GAD): ISCA1
Human Genome Epidemiology (HuGE) Navigator: ISCA1 (2 documents)

Export disorders for ISCA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ISCA1 gene, integrated from 10 sources (see all 17):
(articles sorted by number of sources associating them with ISCA1)

Utopia: connect your pdf to the dynamic
world of online information

hIscA: a protein implicated in the biogenesis of iron-sulfur clusters. (PubMed id 15262227)^{1, 2, 3, 9} Cozar-Castellano I.... Avila J. (Biochim. Biophys. Acta 2004)
The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. (PubMed id 22323289)^{1, 2, 3} Sheftel A.D....Lill R. (Mol. Biol. Cell 2012)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (Nature 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly. (PubMed id 24217246)¹ Pandey A....Pain D. (J. Biol. Chem. 2013)
Iron-binding activity of human iron-sulfur cluster assembly protein hIscA1. (PubMed id 20302570)¹ Lu J....Ding H. (Biochem. J. 2010)
A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)¹ Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. (PubMed id 19656490)¹ Nilsson R....Mootha V.K. (Cell Metab. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 81689	HGNC: 28660	AceView: HBLD2andC9orf153	Ensembl:ENSG00000135070	euGenes: HUgn81689
ECgene: ISCA1	H-InvDB: ISCA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ISCA1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ISCA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ISCA1 gene:
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