ISCU - iron-sulfur cluster assembly enzyme Gene

Also Known as HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23479

About ISCU

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:108,561,463-108,569,384 (from NCBI)

This gene has 13 transcripts (splice variants), 264 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 47.9), heart (RPKM 43.2) and 25 other tissues.

Summary

This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of Enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]

ISCU Products (5)

mRNA	Protein	Name
NM_001301140.1	NP_001288069.1	iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 3 precursor
NM_001301141.1	NP_001288070.1	iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 4 precursor
NM_001320042.1	NP_001306971.1	iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 3 precursor
NM_014301.4	NP_055116.1	iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 1
NM_213595.4	NP_998760.1	iron-sulfur cluster assembly enzyme ISCU, mitochondrial isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	16527810	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11060020	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	29097656	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	30031876	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in [2Fe-2S] cluster assembly	IDA IDA: Inferred from direct assay	23940031	GOA
acts upstream of [4Fe-4S] cluster assembly	IDA IDA: Inferred from direct assay	16527810	GOA
acts upstream of positive effect [4Fe-4S] cluster assembly	IMP IMP: Inferred from mutant phenotype	29309586	GOA
involved in intracellular iron ion homeostasis	IDA IDA: Inferred from direct assay	16517407	GOA
involved in iron-sulfur cluster assembly	IMP IMP: Inferred from mutant phenotype	16517407	GOA
involved in negative regulation of iron ion import across plasma membrane	IMP IMP: Inferred from mutant phenotype	20436681	GOA
involved in positive regulation of aconitate hydratase activity	IMP IMP: Inferred from mutant phenotype	20436681	GOA
involved in positive regulation of mitochondrial electron transport, NADH to ubiquinone	IMP IMP: Inferred from mutant phenotype	20436681	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11060020	GOA
located in cytosol	IDA IDA: Inferred from direct assay	16527810	GOA
part of mitochondrial [2Fe-2S] assembly complex	IDA IDA: Inferred from direct assay	21298097	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	11060020	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

ISCU Protein Structure

NifU_N

0
100
167 a.a.

Protein Preferred Names	Protein Names
iron-sulfur cluster assembly enzyme ISCU, mitochondrial	IscU iron-sulfur cluster scaffold homolog

ISCU Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ISCU	Q9H1K1	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	MID2	Homo sapiens	Q9UJV3-2	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	NECAB2	Homo sapiens	Q7Z6G3-2	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	FAM9B	Homo sapiens	Q8IZU0	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	ISCU	Q9H1K1	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	ISCU	Q9H1K1	CBY2	Homo sapiens	Q8NA61-2	Y2H Prey Pooling	32296183
Intra	ISCU	Q9H1K1	CBY2	Homo sapiens	Q8NA61-2	Y2H Array	32296183
Intra	ISCU	Q9H1K1	CCDC172	Homo sapiens	P0C7W6	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	NUP62	Homo sapiens	P37198	Y2H Array	32296183
Intra	ISCU	Q9H1K1	NUP62	Homo sapiens	P37198	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	NUP62	Homo sapiens	P37198	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	NUP62	Homo sapiens	P37198	Y2H Prey Pooling	32296183
Intra	ISCU	Q9H1K1	YWHAE	Homo sapiens	P62258	Crosslink	36931259
Intra	ISCU	Q9H1K1	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	ISCU	Q9H1K1	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	ISCU	Q9H1K1	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	GOLGA2	Homo sapiens	Q08379	Y2H Array	25416956
Intra	ISCU	Q9H1K1	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	AGTRAP	Homo sapiens	Q6RW13	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	AGTRAP	Homo sapiens	Q6RW13	Y2H Array	25416956
Intra	ISCU	Q9H1K1	BANP	Homo sapiens	Q8N9N5	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	BANP	Homo sapiens	Q8N9N5	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	IKZF1	Homo sapiens	Q13422	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	IKZF1	Homo sapiens	Q13422	Y2H Array	25416956
Intra	ISCU	Q9H1K1	HPRT1	Homo sapiens	P00492	Y2H Prey Pooling	25416956
Intra	ISCU	Q9H1K1	HPRT1	Homo sapiens	P00492	Y2H Array	31515488
Intra	ISCU	Q9H1K1	HPRT1	Homo sapiens	P00492	Validated Y2H	25416956
Intra	ISCU	Q9H1K1	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	ISCU	Q9H1K1	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	ISCU	Q9H1K1	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ISCU Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72066	ISCU Protein, Human (sf9, His)	Q9H1K1-1 (Y35-K167)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Myopathy With Lactic Acidosis, Hereditary	Myopathy With Exercise Intolerance, Swedish Type HML Myopathy With Deficiency Of Succinate Dehydrogenase And Aconitase Myoglobinuria Due To Abnormal Glycolysis Hereditary Myopathy With Lactic Acidosis Due To Iscu Deficiency Hereditary Myopathy With Lactic Acidosis Iron-Sulfur Cluster Deficiency Myopathy Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme Myopathy With Deficiency Of Iscu Aconitase Deficiency Iscu Myopathy Myopathy With Exercise Intolerance Swedish Type MEIS
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Myopathy	Muscular Diseases Myopathies
Siderosis	Pulmonary Siderosis Deposition Of Iron Arc-Welders' Disease Arc-Welders' Lung Arc-Welders' Nodulation Arc-Welders' Pneumoconiosis Iron Oxide Lung Iron Pneumoconiosis Pneumoconiosis Siderotico Siderotic Lung Disease Steel Grinders' Disease Welders' Lung Welders' Siderosis Lung Fibrosis With Siderosis
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
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
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
Mend Syndrome	Male Ebp Disorder With Neurological Defects MEND Male Ebp Disorder With Neurologic Defects
Autosomal Recessive Cerebellar Ataxia	Arca
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
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
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Wolfram Syndrome 2	WFS2
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-145413	BRD2889	Inhibitor	/	Unkown
HY-RS06928	ISCU Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18618	Iscu Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25104	Iscu Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ISCU	VGNC	VGNC:73686
Canis familiaris	ISCU	VGNC	VGNC:42105
Mus musculus	ISCU	MGD	MGI:1913633
Rattus norvegicus	ISCU	RGD	RGD:1309562
Bos taurus	ISCU	VGNC	VGNC:30292
Others	ISCU	NCBI