Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23479
Gene name	Iron-sulfur cluster assembly enzyme
Gene symbol	ISCU
Synonyms (NCBI Gene)	2310020H20RikHMLISU2NIFUNIFUNhnifU
Chromosome	12
Chromosome location	12q23.3
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.

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607190	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs767000507	G>C	Pathogenic	Intron variant

213

Show/Hide all (213)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003163	hsa-miR-210-3p	immunoprecipitaionMicroarrayqRT-PCR	19826008
MIRT003163	hsa-miR-210-3p	Luciferase reporter assayqRT-PCRWestern blot	19808020
MIRT005717	hsa-miR-21-5p	ImmunoblotImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	20480266
MIRT005717	hsa-miR-21-5p	ImmunoblotImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	20480266
MIRT003163	hsa-miR-210-3p	Luciferase reporter assayWestern blot	21801864
MIRT003163	hsa-miR-210-3p	CLASH	23622248
MIRT003163	hsa-miR-210-3p	qRT-PCR	22840297
MIRT003163	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT003163	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT003163	hsa-miR-210-3p	PAR-CLIP	27292025
MIRT003163	hsa-miR-210-3p	PAR-CLIP	27292025
MIRT1072553	hsa-miR-1207-3p	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1072555	hsa-miR-1287	CLIP-seq
MIRT1072556	hsa-miR-1323	CLIP-seq
MIRT1072557	hsa-miR-134	CLIP-seq
MIRT1072558	hsa-miR-138	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072563	hsa-miR-214	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072565	hsa-miR-3135b	CLIP-seq
MIRT1072566	hsa-miR-3153	CLIP-seq
MIRT1072567	hsa-miR-3188	CLIP-seq
MIRT1072568	hsa-miR-329	CLIP-seq
MIRT1072569	hsa-miR-3612	CLIP-seq
MIRT1072570	hsa-miR-3619-5p	CLIP-seq
MIRT1072571	hsa-miR-362-3p	CLIP-seq
MIRT1072572	hsa-miR-3650	CLIP-seq
MIRT1072573	hsa-miR-3665	CLIP-seq
MIRT1072574	hsa-miR-3671	CLIP-seq
MIRT1072575	hsa-miR-3679-3p	CLIP-seq
MIRT1072576	hsa-miR-370	CLIP-seq
MIRT1072577	hsa-miR-3910	CLIP-seq
MIRT1072578	hsa-miR-3941	CLIP-seq
MIRT1072579	hsa-miR-4261	CLIP-seq
MIRT1072580	hsa-miR-4277	CLIP-seq
MIRT1072581	hsa-miR-4303	CLIP-seq
MIRT1072582	hsa-miR-4325	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT1072584	hsa-miR-4443	CLIP-seq
MIRT1072585	hsa-miR-4490	CLIP-seq
MIRT1072586	hsa-miR-4528	CLIP-seq
MIRT1072587	hsa-miR-4649-3p	CLIP-seq
MIRT1072588	hsa-miR-4668-5p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072592	hsa-miR-485-3p	CLIP-seq
MIRT1072593	hsa-miR-491-3p	CLIP-seq
MIRT1072594	hsa-miR-501-3p	CLIP-seq
MIRT1072595	hsa-miR-502-3p	CLIP-seq
MIRT1072596	hsa-miR-548o	CLIP-seq
MIRT1072597	hsa-miR-603	CLIP-seq
MIRT1072598	hsa-miR-644	CLIP-seq
MIRT1072599	hsa-miR-650	CLIP-seq
MIRT1072600	hsa-miR-659	CLIP-seq
MIRT1072601	hsa-miR-663b	CLIP-seq
MIRT1072602	hsa-miR-761	CLIP-seq
MIRT1072603	hsa-miR-891b	CLIP-seq
MIRT1550211	hsa-miR-140-3p	CLIP-seq
MIRT1550212	hsa-miR-154	CLIP-seq
MIRT1550213	hsa-miR-1587	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1550214	hsa-miR-4417	CLIP-seq
MIRT1550215	hsa-miR-4492	CLIP-seq
MIRT1550216	hsa-miR-4498	CLIP-seq
MIRT1550217	hsa-miR-4656	CLIP-seq
MIRT1550218	hsa-miR-4675	CLIP-seq
MIRT1550219	hsa-miR-4741	CLIP-seq
MIRT1550220	hsa-miR-4766-5p	CLIP-seq
MIRT1550221	hsa-miR-4796-3p	CLIP-seq
MIRT1550222	hsa-miR-524-3p	CLIP-seq
MIRT1550223	hsa-miR-525-3p	CLIP-seq
MIRT1550224	hsa-miR-548n	CLIP-seq
MIRT1550225	hsa-miR-548t	CLIP-seq
MIRT1550226	hsa-miR-762	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072556	hsa-miR-1323	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072575	hsa-miR-3679-3p	CLIP-seq
MIRT1072577	hsa-miR-3910	CLIP-seq
MIRT2249698	hsa-miR-4282	CLIP-seq
MIRT1072582	hsa-miR-4325	CLIP-seq
MIRT1072585	hsa-miR-4490	CLIP-seq
MIRT1072586	hsa-miR-4528	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072593	hsa-miR-491-3p	CLIP-seq
MIRT1072594	hsa-miR-501-3p	CLIP-seq
MIRT1072595	hsa-miR-502-3p	CLIP-seq
MIRT1072596	hsa-miR-548o	CLIP-seq
MIRT1072603	hsa-miR-891b	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1550212	hsa-miR-154	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT2389479	hsa-miR-323-3p	CLIP-seq
MIRT1072568	hsa-miR-329	CLIP-seq
MIRT1072571	hsa-miR-362-3p	CLIP-seq
MIRT1072578	hsa-miR-3941	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072592	hsa-miR-485-3p	CLIP-seq
MIRT1550222	hsa-miR-524-3p	CLIP-seq
MIRT1550223	hsa-miR-525-3p	CLIP-seq
MIRT1072597	hsa-miR-603	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1550212	hsa-miR-154	CLIP-seq
MIRT2389479	hsa-miR-323-3p	CLIP-seq
MIRT1072568	hsa-miR-329	CLIP-seq
MIRT1072571	hsa-miR-362-3p	CLIP-seq
MIRT1072578	hsa-miR-3941	CLIP-seq
MIRT1072580	hsa-miR-4277	CLIP-seq
MIRT1072581	hsa-miR-4303	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT1072586	hsa-miR-4528	CLIP-seq
MIRT1072587	hsa-miR-4649-3p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072590	hsa-miR-4698	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT1072592	hsa-miR-485-3p	CLIP-seq
MIRT1550222	hsa-miR-524-3p	CLIP-seq
MIRT1550223	hsa-miR-525-3p	CLIP-seq
MIRT1072597	hsa-miR-603	CLIP-seq
MIRT1072553	hsa-miR-1207-3p	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1072555	hsa-miR-1287	CLIP-seq
MIRT2553166	hsa-miR-1321	CLIP-seq
MIRT1072557	hsa-miR-134	CLIP-seq
MIRT1072558	hsa-miR-138	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072563	hsa-miR-214	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072565	hsa-miR-3135b	CLIP-seq
MIRT1072566	hsa-miR-3153	CLIP-seq
MIRT1072567	hsa-miR-3188	CLIP-seq
MIRT1072569	hsa-miR-3612	CLIP-seq
MIRT1072570	hsa-miR-3619-5p	CLIP-seq
MIRT1072572	hsa-miR-3650	CLIP-seq
MIRT1072573	hsa-miR-3665	CLIP-seq
MIRT1072576	hsa-miR-370	CLIP-seq
MIRT1072579	hsa-miR-4261	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT2553167	hsa-miR-4419a	CLIP-seq
MIRT1072584	hsa-miR-4443	CLIP-seq
MIRT2553168	hsa-miR-4510	CLIP-seq
MIRT1072588	hsa-miR-4668-5p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT2553169	hsa-miR-4728-5p	CLIP-seq
MIRT2553170	hsa-miR-4738-3p	CLIP-seq
MIRT2553171	hsa-miR-4739	CLIP-seq
MIRT2553172	hsa-miR-4756-5p	CLIP-seq
MIRT2553173	hsa-miR-548g	CLIP-seq
MIRT1072598	hsa-miR-644	CLIP-seq
MIRT1072599	hsa-miR-650	CLIP-seq
MIRT1072601	hsa-miR-663b	CLIP-seq
MIRT1072602	hsa-miR-761	CLIP-seq
MIRT2553174	hsa-miR-892a	CLIP-seq
MIRT1072553	hsa-miR-1207-3p	CLIP-seq
MIRT1072554	hsa-miR-1273e	CLIP-seq
MIRT1072555	hsa-miR-1287	CLIP-seq
MIRT2553166	hsa-miR-1321	CLIP-seq
MIRT1072557	hsa-miR-134	CLIP-seq
MIRT1072558	hsa-miR-138	CLIP-seq
MIRT1072559	hsa-miR-185	CLIP-seq
MIRT1072560	hsa-miR-18a	CLIP-seq
MIRT1072561	hsa-miR-18b	CLIP-seq
MIRT1072562	hsa-miR-210	CLIP-seq
MIRT1072563	hsa-miR-214	CLIP-seq
MIRT1072564	hsa-miR-3120-3p	CLIP-seq
MIRT1072565	hsa-miR-3135b	CLIP-seq
MIRT1072566	hsa-miR-3153	CLIP-seq
MIRT1072567	hsa-miR-3188	CLIP-seq
MIRT1072569	hsa-miR-3612	CLIP-seq
MIRT1072570	hsa-miR-3619-5p	CLIP-seq
MIRT1072572	hsa-miR-3650	CLIP-seq
MIRT1072573	hsa-miR-3665	CLIP-seq
MIRT1072576	hsa-miR-370	CLIP-seq
MIRT1072579	hsa-miR-4261	CLIP-seq
MIRT1072583	hsa-miR-4327	CLIP-seq
MIRT2553167	hsa-miR-4419a	CLIP-seq
MIRT1072584	hsa-miR-4443	CLIP-seq
MIRT2553168	hsa-miR-4510	CLIP-seq
MIRT1072588	hsa-miR-4668-5p	CLIP-seq
MIRT1072589	hsa-miR-4693-3p	CLIP-seq
MIRT1072591	hsa-miR-4712-3p	CLIP-seq
MIRT2553169	hsa-miR-4728-5p	CLIP-seq
MIRT2553170	hsa-miR-4738-3p	CLIP-seq
MIRT2553171	hsa-miR-4739	CLIP-seq
MIRT2553172	hsa-miR-4756-5p	CLIP-seq
MIRT2553173	hsa-miR-548g	CLIP-seq
MIRT1072598	hsa-miR-644	CLIP-seq
MIRT1072599	hsa-miR-650	CLIP-seq
MIRT1072601	hsa-miR-663b	CLIP-seq
MIRT1072602	hsa-miR-761	CLIP-seq
MIRT2553174	hsa-miR-892a	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005506	Function	Iron ion binding	TAS	11060020
GO:0005515	Function	Protein binding	IPI	11060020, 15778465, 16527810, 20668094, 23940031, 24606901, 25416956, 26702583, 26749241, 29097656, 29309586, 31101807, 31515488, 32296183, 35271311, 36931259
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16527810
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11060020
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	11060020, 26702583
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	27519411
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	16527810
GO:0005829	Component	Cytosol	TAS
GO:0006879	Process	Intracellular iron ion homeostasis	IBA
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	16517407, 23508953
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	38627381
GO:0008270	Function	Zinc ion binding	IDA	30031876
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IMP	16517407
GO:0016226	Process	Iron-sulfur cluster assembly	NAS	29097656
GO:0016226	Process	Iron-sulfur cluster assembly	TAS	11060020
GO:0042803	Function	Protein homodimerization activity	IDA	29097656, 34824239
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0044571	Process	[2Fe-2S] cluster assembly	IDA	23940031, 24971490, 29576242, 38627381
GO:0044572	Process	[4Fe-4S] cluster assembly	IDA	16527810, 23940031, 29576242
GO:0044572	Process	[4Fe-4S] cluster assembly	IEA
GO:0044572	Process	[4Fe-4S] cluster assembly	IMP	29309586
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	16527810
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IDA	21298097, 31101807
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IEA
GO:0140132	Function	Iron-sulfur cluster chaperone activity	IDA	38627381
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	IMP	20436681
GO:1904439	Process	Negative regulation of iron ion import across plasma membrane	IMP	20436681
GO:1990229	Component	Iron-sulfur cluster assembly complex	NAS	29097656

MIM	HGNC	e!Ensembl
611911	29882	ENSG00000136003

Q9H1K1

Protein name

Iron-sulfur cluster assembly enzyme ISCU (NifU-like N-terminal domain-containing protein) (NifU-like protein)

Protein function

[Isoform 1]: Mitochondrial scaffold protein, of the core iron-sulfur cluster (ISC) assembly complex, that provides the structural architecture on which the [2Fe-2S] clusters are assembled (PubMed:34824239). The core iron-sulfur cluster (ISC) ass

PDB

5KZ5 , 5WKP , 5WLW , 6NZU , 6UXE , 6W1D , 6WI2 , 6WIH , 7RTK , 8PK8 , 8PK9 , 8PKA , 8RMC , 8RMD , 8RME , 8RMF , 8RMG , 8TVT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01592	NifU_N	34 → 160	NifU-like N terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta. {ECO:0000269|PubMed:11060020, ECO:0000269|PubMed:8875867}.

Sequence

MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVG
TGLVGAPACGDVMKLQIQVDEKGKIVDARFKTFGCGSAIASSSLATEWVKGKTVEEALTI
KNTDIAKELCLPPVKLHCSMLAEDAIKAALADYKLKQEPKKGEAEKK

Sequence length

167

Interactions

View interactions

	Reactome
			Mitochondrial iron-sulfur cluster biogenesis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary myopathy with lactic acidosis due to ISCU deficiency	Likely pathogenic; Pathogenic	rs267607190, rs767000507	RCV000000819 RCV000208760

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ISCU-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs533283101, rs558084375, rs112552261, rs1334709607, rs570357676, rs189063751, rs1046379934, rs968001376, rs11548226	RCV003966187 RCV003927842 RCV003937734 RCV003966709 RCV003949291 RCV003959416 RCV003967047 RCV003976400 RCV003965431
Myopathy	Uncertain significance	rs750338671	RCV001553539

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cardiomegaly	Associate	24573684
Colonic Neoplasms	Associate	27589845
Diabetes Gestational	Associate	21801864
Friedreich Ataxia	Associate	18304497, 21671584
Hypoxia	Inhibit	21801864, 29596470
Iron Deficiencies	Associate	18304497
Kidney Neoplasms	Associate	23449350
Mitochondrial Diseases	Associate	23943793
Mitochondrial Myopathies	Associate	24573684, 29079705
Muscular Atrophy	Associate	24573684
Muscular Diseases	Associate	18304497, 20206689, 24573684
Myopathy with Lactic Acidosis Hereditary	Associate	18304497, 20206689, 24573684, 28007899
Neoplasms	Associate	28099149
Neoplastic Syndromes Hereditary	Associate	20206689
Peripheral Arterial Disease	Associate	35288364
Pre Eclampsia	Associate	21801864
Rectal Neoplasms	Associate	36414988
Siderosis	Associate	21801864
Squamous Cell Carcinoma of Head and Neck	Associate	28099149

ISCU (iron-sulfur cluster assembly enzyme)