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NUBPL - NUBP iron-sulfur cluster assembly factor, mitochondrial Gene

Also Known as IND1; huInd1; MC1DN21; C14orf127

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80224

About NUBPL

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:31,561,404-31,861,224 (from NCBI)

This gene has 13 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 1.5), heart (RPKM 1.4) and 25 other tissues.

Summary

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

NUBPL Products (3)

mRNA	Protein	Name
NM_001201573.2	NP_001188502.1	iron-sulfur protein NUBPL isoform 2
NM_001201574.2	NP_001188503.1	iron-sulfur protein NUBPL isoform 3
NM_025152.3	NP_079428.2	iron-sulfur protein NUBPL isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 4 iron, 4 sulfur cluster binding	IDA IDA: Inferred from direct assay	19752196	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	19752196	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	19752196	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	19752196	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

NUBPL Protein Structure

AAA_31

ParA

0
100
200
300
319 a.a.

Protein Preferred Names	Protein Names
iron-sulfur protein NUBPL	IND1 homolog

NUBPL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NUBPL	Q8TB37	NUBP2	Homo sapiens	Q9Y5Y2	MAPPIT	32296183
Intra	NUBPL	Q8TB37	NUBP2	Homo sapiens	Q9Y5Y2	Y2H Prey Pooling	32296183
Intra	NUBPL	Q8TB37	NUBP2	Homo sapiens	Q9Y5Y2	Validated Y2H	32296183
Intra	NUBPL	Q8TB37	NUBP2	Homo sapiens	Q9Y5Y2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 21	MC1DN21 Mitochondrial Complex 1 Deficiency, Nuclear Type 21 Nuclear Type Mitochondrial Complex I Deficiency 21
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
Mitochondrial Oxidative Phosphorylation Disorder	Oxphos Disease Mitochondrial Respiratory Chain Disorders Oxphos - [Oxidative Phosphorylation] Diseases
Glycogen Storage Disease Xv	GSD15 Gsd Xv Glycogenin Deficiency Gyg1 Deficiency Glycogen Storage Disease Type Xv Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency Gsd Type 15 Gsd Type Xv Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency Glycogen Storage Disease Type 15 Glycogenosis Type 15 Glycogenosis Type Xv Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency Glycogen Storage Disease 15 Storage Disease, Glycogen, Type Xv
Multiple Mitochondrial Dysfunctions Syndrome 3	MMDS3 Iba57 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 3 Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3
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 2 With Hyperglycinemia	Multiple Mitochondrial Dysfunctions Syndrome 2 MMDS2 Bola3 Deficiency Multiple Mitochondrial Dysfunctions Syndrome Type 2 Mitochondrial Dysfunctions Syndrome, Multiple, Type 2
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Leukodystrophy	Leukodystrophies
Myopathy	Muscular Diseases Myopathies

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153995B	D-Ribonic acid ammonium		/	Unkown
HY-RS09653	NUBPL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-153995A	D-Ribonic acid		/	Unkown
HY-RS21005	Nubpl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27522	Nubpl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NUBPL	RGD	RGD:1307232
Mus musculus	NUBPL	MGD	MGI:1924076
Felis catus	NUBPL	VGNC	VGNC:63909
Bos taurus	NUBPL	VGNC	VGNC:32317
Canis familiaris	NUBPL	VGNC	VGNC:44019
Macaca mulatta	NUBPL	VGNC	VGNC:75442
Others	NUBPL	NCBI