1. Gene
  2. NDUFS5 - NADH:ubiquinone oxidoreductase subunit S5 Gene

NDUFS5 - NADH:ubiquinone oxidoreductase subunit S5 Gene

Homo sapiens

Also known as CI15K; CI-15k

Gene ID: 4725 | Gene type: protein coding

About NDUFS5

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:39,026,350-39,034,615 (from NCBI)

This gene has 2 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in heart (RPKM 174.0), fat (RPKM 138.7) and 25 other tissues.

Summary

This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first Enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]

NDUFS5 Products(2)

mRNA Protein Name
NM_001184979.2 NP_001171908.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 5
NM_004552.3 NP_004543.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 5

NDUFS5 Protein Structure

Ndufs5

Ndufs5: NADH:ubiquinone oxidoreductase, NDUFS5-15kDa (1 - 96)

  • 0
  • 100
  • 106 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] iron-sulfur protein 5

CI-15 kDa

Related Diseases

Diseases Alias
Mitochondrial Dna Depletion Syndrome 9

MTDPS9

Fatal Infantile Lactic Acidosis

Lactic Acidosis, Fatal Infantile, Formerly

Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Type 9

Lactic Acidosis, Fatal Infantile

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

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NDUFS5 RGD RGD:1311081
Mus musculus NDUFS5 MGD MGI:1890889
Canis familiaris NDUFS5 VGNC VGNC:108230
Bos taurus NDUFS5 VGNC VGNC:31970
Felis catus NDUFS5 VGNC VGNC:68446