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

Homo sapiens

Also known as IND1; huInd1; MC1DN21; C14orf127

Gene ID: 80224 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09653	NUBPL Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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