NDUFA9 - NADH:ubiquinone oxidoreductase subunit A9 Gene

Also Known as CC6; CI39k; COQ11; CI-39k; MC1DN26; NDUFS2L; SDR22E1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4704

About NDUFA9

Cytogenetic location: 12p13.32 Genomic coordinates (GRCh38): 12:4,649,114-4,694,317 (from NCBI)

This gene has 9 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 54.9), colon (RPKM 38.4) and 25 other tissues.

Summary

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

NDUFA9 Products (1)

mRNA Protein Name
NM_005002.5 NP_004993.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables NADH dehydrogenase activity IMP
IMP: Inferred from mutant phenotype
11112787 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17500595 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
23209302 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in circadian rhythm IDA
IDA: Inferred from direct assay
28985504 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: Inferred from mutant phenotype
27626371 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
8486360 GOA
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
17209039 GOA
part of respiratory chain complex I IDA
IDA: Inferred from direct assay
9878551 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

NDUFA9 Protein Structure

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (57 - 215)

  • 0
  • 100
  • 200
  • 300
  • 377 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial

  • CI-39kD

NDUFA9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
NDUFA9 Q16795 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
Intra
NDUFA9 Q16795 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
Intra
NDUFA9 Q16795 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
Intra
NDUFA9 Q16795 BLOC1S1 Homo sapiens P78537
Anti Bait CoIP
22309213
Intra
NDUFA9 Q16795 BLOC1S1 Homo sapiens P78537
Anti Tag CoIP
22309213
Intra
NDUFA9 Q16795 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra
NDUFA9 Q16795 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

NDUFA9 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P810902 NDUFA9 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Mitochondrial Complex I Deficiency, Nuclear Type 26

  • MC1DN26

  • Mitochondrial Complex 1 Deficiency, Nuclear Type 26

  • Nuclear Type Mitochondrial Complex I Deficiency 26
Leigh Syndrome With Leukodystrophy

  • Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

  • Leigh Disease With Leukodystrophy
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
Listeriosis

  • Listeria Infection

  • Infection By Listeria Monocytogenes

  • Listeria Monocytogenes Infection

  • Listeria Infections

  • Listerial Foodborne Infection

  • Circling Disease

  • Infection Due To Listeria Monocytogenes

  • Listerellosis
Listeria Meningitis

  • Meningitis, Listeria
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
Loeys-Dietz Syndrome 4

  • LDS4

  • Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations

  • Loeys-Dietz Syndrome Type 4

  • Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations

  • Loeys-Dietz Syndrome, Type 4
Leukodystrophy

  • Leukodystrophies
Myopathy

  • Muscular Diseases

  • Myopathies
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
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 (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS09135 NDUFA9 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20183 Ndufa9 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26687 Ndufa9 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus NDUFA9 VGNC VGNC:56233
Rattus norvegicus NDUFA9 RGD RGD:1307307
Mus musculus NDUFA9 MGD MGI:1913358
Macaca mulatta NDUFA9 VGNC VGNC:81480
Felis catus NDUFA9 VGNC VGNC:97524
Canis familiaris NDUFA9 VGNC VGNC:57343
Others NDUFA9 NCBI