NDUFC1 - NADH:ubiquinone oxidoreductase subunit C1 Gene

Also Known as KFYI

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4717

About NDUFC1

Cytogenetic location: 4q31.1 Genomic coordinates (GRCh38): 4:139,289,917-139,302,551 (from NCBI)

This gene has 12 transcripts (splice variants) and 120 orthologues. Ubiquitous expression in kidney (RPKM 30.2), heart (RPKM 27.3) and 25 other tissues.

Summary

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. [provided by RefSeq, May 2010]

NDUFC1 Products (7)

mRNA Protein Name
NM_001184986.1 NP_001171915.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184987.1 NP_001171916.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184988.1 NP_001171917.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184989.2 NP_001171918.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184990.1 NP_001171919.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_001184991.1 NP_001171920.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
NM_002494.3 NP_002485.1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor
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
27626371 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

NDUFC1 Protein Structure

NADH_dh_m_C1

NADH_dh_m_C1: NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial (28 - 76)

  • 0
  • 76 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

  • CI-KFYI

Related Diseases

Diseases Alias
Bacterial Gastritis
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

Plethora Of Newborn
  • Neonatal Polycythemia

Leber Optic Atrophy And Dystonia
  • LDYT

  • Marsden Syndrome

  • Leber Hereditary Optic Neuropathy With Dystonia

  • Leber Hereditary Optic Neuropathy And Dystonia

  • Familial Dystonia With Visual Failure And Striatal Lucencies

  • Dystonia, Familial, With Visual Failure And Striatal Lucencies

  • Leber Optic Atrophy With Dystonia

  • Dystonia Familial, With Visual Failure And Striatal Lucencies

  • Lhon And Dystonia

  • Leber'S Hereditary Optic Neuropathy With Dystonia

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

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
Mus musculus NDUFC1 MGD MGI:1913627
Rattus norvegicus NDUFC1 RGD RGD:1586362
Bos taurus NDUFC1 VGNC VGNC:31968
Others NDUFC1 NCBI