1. Gene
  2. NDUFC1 - NADH:ubiquinone oxidoreductase subunit C1 Gene

NDUFC1 - NADH:ubiquinone oxidoreductase subunit C1 Gene

Homo sapiens

Also known as KFYI

Gene ID: 4717 | Gene type: protein coding

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

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