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The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
NDUFB5 (NADH:Ubiquinone Oxidoreductase Subunit B5) is a Protein Coding gene. Diseases associated with NDUFB5 include Night Blindness, Congenital Stationary, Type 1A. 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 NADH dehydrogenase (ubiquinone) activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008137 | NADH dehydrogenase (ubiquinone) activity | TAS,NAS | 9878551 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005747 | mitochondrial respiratory chain complex I | NAS | 9878551 |
GO:0016020 | membrane | IEA | -- |
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:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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QH2 |
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56275-39-9 |
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Sulfide |
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18496-25-8 |
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ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | · | 8g | · | 8h |
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SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NDUFB5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NDUFB5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NDUFB5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ndufb5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ndufb5 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | NDUFB5 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NDUFB5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NDUFB5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NDUFB5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ndufb5 30 |
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Str.1944 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | ndufb5-prov 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | ndufb5 30 31 |
|
OneToOne | |
-- 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8572 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | l(3)neo18 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007297 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3719 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
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rs4147793 | - | p.Tyr133His |
Disorder | Aliases | PubMed IDs |
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night blindness, congenital stationary, type 1a |
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