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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 (NADH:Ubiquinone Oxidoreductase Subunit A9) is a Protein Coding gene. Diseases associated with NDUFA9 include Mitochondrial Complex I Deficiency, Nuclear Type 26 and Leigh Syndrome With Leukodystrophy. Among its related pathways are GABAergic synapse and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0003954 | NADH dehydrogenase activity | IBA,NAS | 8486360 |
GO:0005515 | protein binding | IPI | 19103604 |
GO:0008137 | NADH dehydrogenase (ubiquinone) activity | NAS | 8486360 |
GO:0044877 | protein-containing complex binding | IDA | 23209302 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005747 | mitochondrial respiratory chain complex I | IEA,IDA | 9878551 |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
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2 | Parkinson disease | ||
3 | Metabolism |
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4 | GABAergic synapse |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006120 | mitochondrial electron transport, NADH to ubiquinone | TAS | -- |
GO:0006814 | sodium ion transport | NAS | 8486360 |
GO:0007623 | circadian rhythm | IDA | 28985504 |
GO:0009749 | response to glucose | IEA | -- |
GO:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
QH2 |
|
56275-39-9 |
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Sulfide |
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18496-25-8 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NDUFA9 30 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | NDUFA9 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | NDUFA9 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Ndufa9 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Ndufa9 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Chicken (Gallus gallus) |
Aves | NDUFA9 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ndufa9 30 |
|
||
Str.8681 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64316 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-251f6.5 30 31 |
|
ManyToMany | |
ndufa9 31 |
|
ManyToMany | |||
wufc41f12 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.672 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6020 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010792 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y53G8AL.2 30 31 32 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G20360 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0816800 30 |
|
||
Os.10342 30 |
|
||||
Wheat (Triticum aestivum) |
Liliopsida | Ta.5022 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.8933 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02373 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8552 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
669510 | Benign: not provided | 4,659,338(+) | C/T | INTRON_VARIANT | |
669511 | Benign: not provided | 4,682,496(+) | C/A | INTRON_VARIANT | |
671526 | Benign: not provided | 4,668,183(+) | C/T | INTRON_VARIANT | |
671701 | Benign: not provided | 4,654,238(+) | G/C | INTRON_VARIANT | |
671789 | Benign: not provided | 4,659,345(+) | A/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex i deficiency, nuclear type 26 |
|
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leigh syndrome with leukodystrophy |
|
|
leigh syndrome |
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liver disease |
|
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listeriosis |
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