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ISCA1 - iron-sulfur cluster assembly 1 Gene

Also Known as ISA1; HBLD2; MMDS5; hIscA; hIscA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81689

About ISCA1

Cytogenetic location: 9q21.33 Genomic coordinates (GRCh38): 9:86,264,546-86,282,538 (from NCBI)

This gene has 4 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 27.0), brain (RPKM 25.4) and 25 other tissues.

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]

ISCA1 Products (1)

mRNA	Protein	Name
NM_030940.4	NP_112202.2	iron-sulfur cluster assembly 1 homolog, mitochondrial precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25347204	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of mitochondrial [4Fe-4S] assembly complex	IDA IDA: Inferred from direct assay	25347204	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ISCA1 Protein Structure

Fe-S_biosyn

0
100
129 a.a.

Protein Preferred Names	Protein Names
iron-sulfur cluster assembly 1 homolog, mitochondrial	HESB like domain containing 2

ISCA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ISCA1	Q9BUE6	ISCA2	Homo sapiens	Q86U28	NMR	25347204
Intra	ISCA1	Q9BUE6	ISCA2	Homo sapiens	Q86U28	UV-VIS	25347204

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Multiple Mitochondrial Dysfunctions Syndrome 5	MMDS5 Multiple Mitochondrial Dysfunctions Syndrome Type 5 Isca1 Deficiency Mitochondrial Dysfunctions, Multiple, Syndrome, Type 5
Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunctions Syndrome Fatal Multiple Mitochondrial Dysfunction Syndrome Mmds Multiple Mitochondrial Dysfunction Syndrome Mitochondrial Dysfunctions, Multiple, Syndrome Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 3	MMDS3 Iba57 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 3 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3
Multiple Mitochondrial Dysfunctions Syndrome 4	MMDS4 Multiple Mitochondrial Dysfunctions Syndrome Type 4 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Multiple Mitochondrial Dysfunctions Syndrome 2 MMDS2 Bola3 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 2 Mitochondrial Dysfunctions Syndrome, Multiple, Type 2
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Combined Oxidative Phosphorylation Deficiency 19	COXPD19 Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Combined Oxidative Phosphorylation Deficiency, Type 19
Multiple Mitochondrial Dysfunctions Syndrome 1	MMDS1 Mmds Nfu1 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 1 Mitochondrial Dysfunctions Syndrome, Multiple, Type 1
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Anemia, Sideroblastic, And Spinocerebellar Ataxia	X-Linked Sideroblastic Anemia With Ataxia ASAT X-Linked Sideroblastic Anemia And Ataxia X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia Anemia, Sideroblastic, With Ataxia Anemia Sideroblastic And Spinocerebellar Ataxia Pagon Bird Detter Syndrome Pagon-Bird-Detter Syndrome Xlsa-A X-Linked Sideroblastic Anaemia And Ataxia X-Linked Sideroblastic Anaemia With Ataxia Sideroblastic Anemia With Spinocerebellar Ataxia Xlsa/A Anemia, Sideroblastic, Spinocerebellar Ataxia Sideroblastic Anemia And Ataxia Anemia Sideroblastic, And Spinocerebellar Ataxia
Leukodystrophy	Leukodystrophies
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06926	ISCA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ISCA1	VGNC	VGNC:97468
Mus musculus	ISCA1	MGD	MGI:1916296
Rattus norvegicus	ISCA1	RGD	RGD:727792
Bos taurus	ISCA1	VGNC	VGNC:56975
Macaca mulatta	ISCA1	VGNC	VGNC:103274
Others	ISCA1	NCBI