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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ISCA1 Gene

protein-coding GIFtS: 53
GCID: GC09M088879

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

(Previous name: HESB like domain containing 2 )
(Previous symbol: HBLD2)

Explore 1 disease affiliated with
ISCA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Iron-Sulfur Cluster Assembly 1 Homolog (S. Cerevisiae)¹ ²		HESB-Like Domain-Containing Protein 2² ³
HBLD2¹ ² ³ ⁵		MGC4276¹
HIscA¹		RP11-507D14.2²
ISA1¹ ²		Iron Sulfur Assembly Protein IscA²
HESB Like Domain Containing 2¹ ²		Iron-Sulfur Cluster Assembly 1 Homolog, Mitochondrial²
Iron-Sulfur Assembly Protein IscA² ³		HISCA⁵

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ISCA1:

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)

UniProtKB/Swiss-Prot: ISCA1_HUMAN, Q9BUE6

Function: Involved in the assembly of mitochondrial iron-sulfur proteins. Probably involved in the binding of an

intermediate of Fe/S cluster assembly

Gene Wiki entry for ISCA1

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for ISCA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: Mitochondrion

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BUE6

ISCA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_112202.2

ENSEMBL proteins:

ENSP00000365159 ENSP00000339003 ENSP00000365157 ENSP00000409332

Human Recombinant Protein Products for ISCA1:

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	Uscn Proteins for ISCA1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

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

ISCA1 for ontologies About GeneDecksing

ISCA1 Antibody Products:

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ISCA1 for domains About GeneDecksing

3 InterPro domains/families:

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 family: IPB000361 Protein of unknown function

UniProtKB/Swiss-Prot: ISCA1_HUMAN, Q9BUE6

Similarity: Belongs to the HesB/IscA family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ISCA1_HUMAN, Q9BUE6

Function: Involved in the assembly of mitochondrial iron-sulfur proteins. Probably involved in the binding of an

intermediate of Fe/S cluster assembly

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): 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	--

ISCA1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ISCA1:

Decreased viability of wild-ty

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ISCA1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISCA1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ISCA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/242 Interacting proteins for ISCA1 (Q9BUE6^{2, 3} ENSP00000365159⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 242)

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

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

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

ISCA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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	--

Search CenterWatch for drugs/clinical trials and news about ISCA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

24/307 AceView cDNA sequences (see all 307):

BM909090 AW469014 BM464477 BM920292 AA742171 BM722147 CB215892 AL045685

BI521583 BM722219 AI344016 CR604050 H45510 BE891206 BU150683 BQ271587

NM_030940 AW069469 AA810798 BX370479 AI633528 BM452443 AA805549 AY015642

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ISCA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTTTGTATC

About this image

ISCA1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Choroid Plexus

Brain

Fourth Ventricle

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ISCA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ISCA1

SOURCE GeneReport for Unigene cluster: Hs.449291

UniProtKB/Swiss-Prot: ISCA1_HUMAN, Q9BUE6

Tissue specificity: Detected in cerebellum, kidney and heart

SABiosciences Custom PCR Arrays for ISCA1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISCA1

(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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for ISCA1 gene from 10/34 species (see all 34) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ZCCHC6¹	zinc finger, CCHC domain containing 6	83.46(n) 93.02(a)		427463 XM_003643007.1 XP_003643055.1
lizard (Anolis carolinensis)	Reptilia	ISCA1⁶	--	91(a)	1 ↔ 1	2(41747802-41757040)
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_001025178.1 NP_001020349.1
fruit fly (Drosophila melanogaster)	Insecta	l(1)G0136¹	lethal (1) G0136	64.48(n) 77.87(a)		32513 NM_132834.1 NP_573062.1
worm (Caenorhabditis elegans)	Secernentea	CELE_Y39B6A.3¹	Protein Y39B6A.3	56.94(n) 62.5(a)		180262 NM_001129566.1 NP_001123038.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ISA1¹	Isa1p	58.48(n) 51.75(a)		850632 NP_013073.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G16710¹	Iron-sulfur assembly protein IscA-like 1	50.81(n) 50.81(a)		816172 NM_001202607.1 NP_001189536.1
rice (Oryza sativa)	Liliopsida	Os01g0105800¹	hypothetical protein	54.13(n) 52.8(a)		9272545 NM_001185190.1 NP_001172119.1
E. coli (Escherichia coli)	Gamma proteobacteria	iscA⁶ sufA⁶	Fe-S cluster assembly protein	38(a) 34(a)	possible ortholog possible ortholog	Chromosome(2657585-2657908) Chromosome(1762042-1762410)

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)
About This Section

Paralogs for ISCA1 gene

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

ISCA2

ISCA1 for paralogs About GeneDecksing

5/11 Pseudogenes.org Pseudogenes for ISCA1 (see all 11)
PGOHUM00000246758 PGOHUM00000248948 PGOHUM00000237440 PGOHUM00000234196 PGOHUM00000234234

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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		--	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		--	88879704(+)	`CATATA/GTATCA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ISCA1 (88879461 - 88897676 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ISCA1
1 CNV: 96171

SABiosciences Cancer Mutation 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.)
About This Section

ISCA1 for disorders           About GeneDecksing

OMIM gene information: 611006    OMIM disorders: --

1 disease for ISCA1:    About MalaCards

malaria

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)
About This Section

PubMed articles for ISCA1 gene, integrated from 9 sources (see all 16):
(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. (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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
The human mitochondrial ISCA1, ISCA2, and IBA57 protei ns are required for [4Fe-4S] protein maturation. (PubMed id 22323289)¹ Sheftel A.D....Lill R. (2012)
A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)¹ Richter R....Chrzanowska-Lightowlers Z.M. (2010)
Iron-binding activity of human iron-sulfur cluster as sembly protein hIscA1. (PubMed id 20302570)¹ Lu J....Ding H. (2010)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Human ISCA1 interacts with IOP1/NARFL and functions i n both cytosolic and mitochondrial iron-sulfur protein biogenesis. (PubMed id 19864422)¹ Song D....Lee F.S. (2009)
Discovery of genes essential for heme biosynthesis th rough large-scale gene expression analysis. (PubMed id 19656490)¹ Nilsson R....Mootha V.K. (2009)

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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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ISCA1	Pharmacogenomics, SNPs, Pathways

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

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

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