NDUFA5 - NADH:ubiquinone oxidoreductase subunit A5 Gene

Homo sapiens

Also known as B13; NUFM; UQOR13; CI-13kB; CI-13KD-B

Gene ID: 4698 | Gene type: protein coding

About NDUFA5

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:123,536,997-123,601,651 (from NCBI)

This gene has 25 transcripts (splice variants) and 258 orthologues. Ubiquitous expression in thyroid (RPKM 21.8), heart (RPKM 20.7) and 25 other tissues.

Summary

This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]

NDUFA5 Products(6)

mRNA	Protein	Name
NM_001282419.3	NP_001269348.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 2
NM_001282420.3	NP_001269349.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 3
NM_001282421.3	NP_001269350.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 4
NM_001282422.3	NP_001269351.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 5
NM_001291304.2	NP_001278233.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 6
NM_005000.5	NP_004991.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 1

NDUFA5 Protein Structure

ETC_C1_NDUFA5

0
100
116 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa

Related Diseases

Diseases

Alias

Endobronchial Leiomyoma

Korean Hemorrhagic Fever

Hemorrhagic Fever With Renal Syndrome

Lung Leiomyoma

Pulmonary Leiomyoma

Leiomyoma Of Lung

Oral Tuberculosis

Tuberculosis, Oral

Medullary Colon Carcinoma

Polyomavirus-Associated Nephropathy

Polyomavirus Associated Nephropathy

Pvan

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

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

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

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-RS09131	NDUFA5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NDUFA5	VGNC	VGNC:31949
Macaca mulatta	NDUFA5	VGNC	VGNC:108425
Rattus norvegicus	NDUFA5	RGD	RGD:3155
Mus musculus	NDUFA5	MGD	MGI:1915452

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