NFU1 - NFU1 iron-sulfur cluster scaffold Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27247

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	NFU1	NCBI