NFU1 - NFU1 iron-sulfur cluster scaffold Gene

Homo sapiens

Also known as Nfu; NifU; HIRIP; MMDS1; NIFUC; CGI-33; HIRIP5

Gene ID: 27247 | Gene type: protein coding

About NFU1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,395,750-69,439,567 (from NCBI)

This gene has 10 transcripts (splice variants), 129 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 30.5), kidney (RPKM 17.0) and 25 other tissues.

Summary

This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including Succinate Dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

NFU1 Products(4)

mRNA	Protein	Name
NM_001002755.4	NP_001002755.1	NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2
NM_001002756.2	NP_001002756.1	NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 3
NM_001374284.1	NP_001361213.1	NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 1
NM_015700.4	NP_056515.2	NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 2 iron, 2 sulfur cluster binding	IDA IDA: Inferred from direct assay	27538573	GOA
enables 4 iron, 4 sulfur cluster binding	IDA IDA: Inferred from direct assay	12886008	GOA
enables iron ion binding	IDA IDA: Inferred from direct assay	12886008	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11342215	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in iron-sulfur cluster assembly	IDA IDA: Inferred from direct assay	12886008	GOA
involved in protein maturation by [2Fe-2S] cluster transfer	IDA IDA: Inferred from direct assay	27538573	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	12886008	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	12886008	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12886008	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

NFU1 Protein Structure

Nfu_N

NifU

0
100
200
254 a.a.

Protein Preferred Names

Protein Names

NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

HIRA-interacting protein 5

NFU1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NFU1	Q9UMS0	TFIP11	Homo sapiens	Q9UBB9	Y2H Array	32296183
Intra	NFU1	Q9UMS0	TFIP11	Homo sapiens	Q9UBB9	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Array	32296183
Intra	NFU1	Q9UMS0	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	APOC1	Homo sapiens	P02654	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	APOC1	Homo sapiens	P02654	Y2H Array	32296183
Intra	NFU1	Q9UMS0	DESI2	Homo sapiens	Q9BSY9	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	DESI2	Homo sapiens	Q9BSY9	Y2H Array	32296183
Intra	NFU1	Q9UMS0	RHBDD2	Homo sapiens	Q6NTF9-3	Y2H Array	32296183
Intra	NFU1	Q9UMS0	RHBDD2	Homo sapiens	Q6NTF9-3	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	APOC4	Homo sapiens	P55056	Y2H Array	32296183
Intra	NFU1	Q9UMS0	APOC4	Homo sapiens	P55056	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	FKBP7	Homo sapiens	Q9Y680	Y2H Array	32296183
Intra	NFU1	Q9UMS0	FKBP7	Homo sapiens	Q9Y680	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	FKBP7	Homo sapiens	Q9Y680	Validated Y2H	32296183
Intra	NFU1	Q9UMS0	ZNF688	Homo sapiens	P0C7X2	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	ZNF688	Homo sapiens	P0C7X2	Y2H Array	32296183
Cross	NFU1	Q9UMS0	ORF	Human immunodeficiency virus	Q9Q2G4	Pull Down	22190034
Intra	NFU1	Q9UMS0	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
Intra	NFU1	Q9UMS0	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	MDK	Homo sapiens	P21741	Y2H Array	32296183
Intra	NFU1	Q9UMS0	MDK	Homo sapiens	P21741	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	CALCOCO2	Homo sapiens	Q13137	Validated Y2H	25416956
Intra	NFU1	Q9UMS0	TRIM23	Homo sapiens	P36406	Y2H Prey Pooling	25416956
Intra	NFU1	Q9UMS0	AGTRAP	Homo sapiens	Q6RW13	Y2H Array	25416956
Intra	NFU1	Q9UMS0	SDCBP2	Homo sapiens	Q9H190	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	SDCBP2	Homo sapiens	Q9H190	Y2H Array	32296183
Intra	NFU1	Q9UMS0	ZSCAN5A	Homo sapiens	Q9BUG6	Y2H Array	32296183
Intra	NFU1	Q9UMS0	ZSCAN5A	Homo sapiens	Q9BUG6	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	COIL	Homo sapiens	P38432	Y2H Prey Pooling	32296183
Intra	NFU1	Q9UMS0	COIL	Homo sapiens	P38432	Y2H Array	32296183
Intra	NFU1	Q9UMS0	MORN3	Homo sapiens	Q6PF18	Y2H Array	32296183
Intra	NFU1	Q9UMS0	MORN3	Homo sapiens	Q6PF18	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1	Mmds
Nfu1 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 1
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

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

Myoclonic Epilepsy Of Lafora

Lafora Disease	Epilepsy, Progressive Myoclonic 2b
EPM2	Melf
Epilepsy, Progressive Myoclonic 2a	Epm2a
Lafora'S Disease	Lafora Body Disease
Lbd	Epilepsy, Progressive Myoclonic, 2a
Lafora Progressive Myoclonic Epilepsy	Epilepsy Progressive Myoclonic 2
Lafora Body Disorder	Pme Type 2
Progressive Myoclonic Epilepsy Type 2	Progressive Myoclonus Epilepsy Type 2
Epilepsy, Progressive Myoclonic 2	Epm2b
Ld	Progressive Myoclonic Epilepsy 2
Progressive Myoclonic Epilepsy 2a	Progressive Myoclonic Epilepsy 2b
Progressive Myoclonic Epilepsy Lafora Type	Epilepsy, Myoclonic, Of Lafora

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

Pulmonary Hypertension

Primary Pulmonary Hypertension	Hypertension Pulmonary
Hypertension, Pulmonary	Hypertension, Pulmonary, Primary
Idiopathic Pulmonary Hypertension	Idiopathic Pulmonary Arterial Hypertension
Pulmonary Htn - [Hypertension]

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

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

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

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

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Combined Oxidative Phosphorylation Deficiency 19

COXPD19	Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency
Combined Oxidative Phosphorylation Deficiency, Type 19

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency	Pdh Deficiency
PDHAD	Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia With Lactic Acidosis I	Ataxia With Lactic Acidosis 1
Pdh	Pdhc
Ataxia With Lactic Acidosis	Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency	Deficiency Of Pyruvic Dehydrogenase
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency	Pdc Deficiency
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency	Pdhc Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency	Ataxia Intermittent With Abnormal Pyruvate Metabolism
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency	Pyruvate Dehydrogenase E1 Alpha Deficiency
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency	Ataxia With Lactic Acidosis 2

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09268	NFU1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NFU1	VGNC	VGNC:63792
Mus musculus	NFU1	MGD	MGI:1913290
Bos taurus	NFU1	VGNC	VGNC:32052
Rattus norvegicus	NFU1	RGD	RGD:1307823
Macaca mulatta	NFU1	VGNC	VGNC:106188
Canis familiaris	NFU1	VGNC	VGNC:43787

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