Aliases for ISCA1 Gene
Aliases for ISCA1 Gene
External Ids for ISCA1 Gene
- HGNC: 28660
- Entrez Gene: 81689
- Ensembl: ENSG00000135070
- OMIM: 611006
- UniProtKB: Q9BUE6
Previous HGNC Symbols for ISCA1 Gene
- HBLD2
Previous GeneCards Identifiers for ISCA1 Gene
- GC09M088070
- GC09M088879
- GC09M058702
Summaries 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. Diseases associated with ISCA1 include Multiple Mitochondrial Dysfunctions Syndrome 5 and Multiple Mitochondrial Dysfunctions Syndrome. Gene Ontology (GO) annotations related to this gene include structural molecule activity and iron-sulfur cluster binding.
UniProtKB/Swiss-Prot for ISCA1 Gene
-
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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISCA1 Gene
Genomics for ISCA1 Gene
GeneHancer (GH) Regulatory Elements for ISCA1 Gene
Promoters and enhancers for ISCA1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH09I086280 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 550.8 | +0.7 | 743 | 2.8 | HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 | ISCA1 C9orf153 GAS1RR RN7SKP264 LOC389765 LOC100130049 GAS1 ZCCHC6 | |
| GH09I086287 | Enhancer | 1 | Ensembl ENCODE | 0.8 | -4.1 | -4119 | 0.4 | ATF1 ARID4B MZF1 ZNF2 THRB RAD21 ATF7 CREM THAP11 ZNF654 | C9orf153 ISCA1 GC09M086340 | |
| GH09I086284 | Enhancer | 0.7 | ENCODE | 0.8 | -2.1 | -2102 | 1.3 | SMARCE1 MEIS2 LEF1 PKNOX1 MTA2 TEAD4 TAL1 CBFA2T3 REST DPF2 | ZCCHC6 C9orf153 ISCA1 GC09M086340 | |
| GH09I086286 | Enhancer | 0.6 | ENCODE | 0.8 | -3.6 | -3562 | 0.1 | SOX6 TEAD4 TAL1 CBFA2T3 DPF2 EP300 ZNF592 CC2D1A TCF12 GATA2 | ISCA1 GC09M086340 | |
| GH09I086337 | Enhancer | 1 | Ensembl ENCODE | 0.2 | -56.0 | -55970 | 4 | PKNOX1 INSM2 BACH1 BMI1 CHD7 BATF POLR2A ZNF143 ATF7 FOSL2 | ZCCHC6 C9orf153 GC09M086340 ISCA1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ISCA1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ISCA1 Gene
Genomic Locations for ISCA1 Gene
- chr9:86,264,546-86,283,102
- (GRCh38/hg38)
- Size:
- 18,557 bases
- Orientation:
- Minus strand
- chr9:88,879,461-88,897,676
- (GRCh37/hg19)
Genomic View for ISCA1 Gene
Genes around ISCA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q21.33 by Ensembl
- 9q21.33 by Entrez Gene
- 9q21.33 by HGNC
ISCA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ISCA1 Gene
Proteins for ISCA1 Gene
-
Protein details for ISCA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BUE6-ISCA1_HUMAN
- Recommended name:
- Iron-sulfur cluster assembly 1 homolog, mitochondrial
- Protein Accession:
- Q9BUE6
- B3KP34
- B4DJI5
- Q8ND75
- Q9BZR2
Protein attributes for ISCA1 Gene
- Size:
- 129 amino acids
- Molecular mass:
- 14179 Da
- Quaternary structure:
-
- Interacts with CRY2, but not with CRY1 (in vitro).
- SequenceCaution:
-
- Sequence=AAG59854.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD39021.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for ISCA1 Gene
Post-translational modifications for ISCA1 Gene
No Post-translational modifications
Other Protein References for ISCA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ISCA1
- Invitrogen Antibodies for ISCA1
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Protein Products
-
OriGene Purified Proteins for ISCA1
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-
Abcam proteins for ISCA1
Assay Products
No data available for DME Specific Peptides for ISCA1 Gene
Domains & Families for ISCA1 Gene
Gene Families for ISCA1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ISCA1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ISCA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BUE6- Family:
-
- Belongs to the HesB/IscA family.
Function for ISCA1 Gene
Molecular function for ISCA1 Gene
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | IEA | -- |
| GO:0008198 | ferrous iron binding | IBA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0051536 | iron-sulfur cluster binding | IEA | -- |
| GO:0051537 | 2 iron, 2 sulfur cluster binding | IBA | -- |
Phenotypes for ISCA1 Gene
- MGI mutant phenotypes for ISCA1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ISCA1:
Animal Models for ISCA1 Gene
- MGI Knock Outs for ISCA1:
-
- Isca1 tm1b(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
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CRISPR Products
-
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Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for ISCA1 Gene
- miRTarBase miRNAs that target ISCA1
-
- hsa-mir-181c-5p (MIRT047223)
- hsa-mir-4451 (MIRT487940)
- hsa-mir-3132 (MIRT487941)
- hsa-mir-197-5p (MIRT487942)
- hsa-mir-6835-5p (MIRT487943)
- hsa-mir-3175 (MIRT487944)
- hsa-mir-8085 (MIRT487945)
- hsa-mir-6731-5p (MIRT487946)
- hsa-mir-2114-5p (MIRT487947)
- hsa-mir-5007-5p (MIRT487948)
- hsa-mir-624-3p (MIRT487949)
- hsa-mir-3152-5p (MIRT563443)
- hsa-mir-4774-3p (MIRT563444)
- hsa-mir-6894-3p (MIRT563445)
- hsa-mir-6514-3p (MIRT563446)
- hsa-mir-661 (MIRT563447)
- hsa-mir-3116 (MIRT563448)
- hsa-mir-6499-3p (MIRT563449)
- hsa-mir-1254 (MIRT563450)
- hsa-mir-583 (MIRT563451)
- hsa-mir-1276 (MIRT563452)
- hsa-mir-4311 (MIRT563453)
miRNA Products
- Search ViGene Biosciences for ISCA1
Inhibitory RNA Products
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ViGene Biosciences ready-to-package AAV shRNAs for ISCA1 gene
Clone Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for ISCA1 gene
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ViGene Biosciences lentiviral particle packaged cDNA for ISCA1 gene
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ISCA1 Gene
Localization for ISCA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ISCA1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005759 | mitochondrial matrix | IBA,TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ISCA1 Gene
Pathways & Interactions for ISCA1 Gene
No Data Available
Interacting Proteins for ISCA1 Gene
Selected Interacting proteins:
Q9BUE6-ISCA1_HUMAN
ENSP00000365159
for ISCA1 Gene via
MINT
STRING
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016226 | iron-sulfur cluster assembly | IBA | -- |
| GO:0044281 | small molecule metabolic process | TAS | -- |
| GO:0097428 | protein maturation by iron-sulfur cluster transfer | IEA,IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ISCA1 Gene
Transcripts for ISCA1 Gene
mRNA/cDNA for ISCA1 Gene
- (1) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (307) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ISCA1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ISCA1
- genomics-online: gRNA clones - Search results for 121 available ISCA1 gene related products
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- Applied Biological Materials CRISPR for ISCA1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ISCA1
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miRNA Products
- Search ViGene Biosciences for ISCA1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ISCA1
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- genomics-online: shRNA clones - Search results for 121 available ISCA1 gene related products
- Overview of 121 available ISCA1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ISCA1 gene
Clone Products
- Sino Biological Human cDNA Clone for ISCA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for ISCA1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: |
Expression for ISCA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Ovary (11.0) and Adrenal (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ISCA1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ISCA1 Gene:
ISCA1SOURCE GeneReport for Unigene cluster for ISCA1 Gene:
Hs.449291mRNA Expression by UniProt/SwissProt for ISCA1 Gene:
Q9BUE6-ISCA1_HUMAN
Tissue specificity:
Detected in cerebellum, kidney and heart.
Evidence on tissue expression from TISSUES for ISCA1 Gene
- Nervous system(5)
- Kidney(2.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for ISCA1
-
OriGene qPCR primer pairs for ISCA1
- genomics-online: primer clones - Search results for 121 available ISCA1 gene related products
- Overview of 121 available ISCA1 gene related products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISCA1 Gene
Orthologs for ISCA1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ISCA1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | AK157302 34 |
|
OneToMany | |
| Isca1 33 16 34 |
|
||||
| cow (Bos Taurus) |
Mammalia | ISCA1 33 34 |
|
||
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | ISCA1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ISCA1 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Isca1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ISCA1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ISCA1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ISCA1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | isca1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9646 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | isca1 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002730 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | l(1)G0136 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_Y39B6A.3 33 |
|
||
| Y39B6A.3 34 |
|
OneToOne | |||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F18150g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ISA1 34 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G16710 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0105800 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5203 34 |
|
OneToOne |
- Species where no ortholog for ISCA1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for ISCA1 Gene
(1) SIMAP similar genes for ISCA1 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for ISCA1 Gene
No data available for Paralogs for ISCA1 Gene
Variants for ISCA1 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs776679653 | pathogenic, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, Multiple mitochondrial dysfunctions syndrome, Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613] | 86,266,174(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1000029020 | -- | 86,278,649(-) | G/C | intron_variant | |
| rs1000409192 | -- | 86,275,532(-) | G/A | intron_variant | |
| rs1000504617 | -- | 86,270,174(-) | A/C | intron_variant | |
| rs1000615380 | -- | 86,267,315(-) | G/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1041191 | CNV | gain | 25217958 |
| nsv972770 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.21;
39.94% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ISCA1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISCA1 Gene
Disorders for ISCA1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multiple mitochondrial dysfunctions syndrome 5 |
|
|
| multiple mitochondrial dysfunctions syndrome |
|
|
| ampulla of vater neoplasm |
|
|
| aspiration pneumonia |
|
|
Search ISCA1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ISCA1_HUMAN- Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613]: An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise. {ECO:0000269 PubMed:28356563}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ISCA1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ISCA1 Gene
Publications for ISCA1 Gene
- hIscA: a protein implicated in the biogenesis of iron-sulfur clusters. (PMID: 15262227) Cózar-Castellano I … Avila J (Biochimica et biophysica acta 2004) 2 3 4 22 58
- The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. (PMID: 22323289) Sheftel AD … Lill R (Molecular biology of the cell 2012) 2 3 4 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
Products for ISCA1 Gene
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- Quality Products:
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- genomics-online: cdna clones - Search results for 121 available ISCA1 gene related products
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Sources for ISCA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
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