NDUFA5 - NADH:ubiquinone oxidoreductase subunit A5 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4698

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24344204 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: Inferred from mutant phenotype
27626371 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
part of respiratory chain complex I IDA
IDA: Inferred from direct assay
12611891 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

NDUFA5 Protein Structure

ETC_C1_NDUFA5

ETC_C1_NDUFA5: ETC complex I subunit conserved region (19 - 73)

  • 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

NDUFA5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NDUFA5 Q16718 NDUFS3 Homo sapiens O75489
Y2H Array
32296183
Intra
NDUFA5 Q16718 NDUFS3 Homo sapiens O75489
Y2H Prey Pooling
32296183
Intra
NDUFA5 Q16718 YWHAG Homo sapiens P61981
Y2H Pooling
32814053
Intra
NDUFA5 Q16718 YWHAG Homo sapiens P61981
Validated Y2H
32814053
Intra
NDUFA5 Q16718 YWHAG Homo sapiens P61981
Y2H Array
32814053
Intra
NDUFA5 Q16718 KAT5 Homo sapiens Q92993
Validated Y2H
32814053
Intra
NDUFA5 Q16718 KAT5 Homo sapiens Q92993
Y2H Array
32814053
Intra
NDUFA5 Q16718 KAT5 Homo sapiens Q92993
Y2H Pooling
32814053
Intra
NDUFA5 Q16718 PLEKHF2 Homo sapiens Q9H8W4
Validated Y2H
32296183
Intra
NDUFA5 Q16718 SETDB1 Homo sapiens Q15047-2
Validated Y2H
32814053
Intra
NDUFA5 Q16718 SETDB1 Homo sapiens Q15047-2
Y2H Pooling
32814053
Intra
NDUFA5 Q16718 SETDB1 Homo sapiens Q15047-2
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09131 NDUFA5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-169281 Antiviral agent 61 Inhibitor / Unkown
HY-RS21893 Ndufa5 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28410 Ndufa5 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others NDUFA5 NCBI