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The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NDUFV3 (NADH:Ubiquinone Oxidoreductase Subunit V3) is a Protein Coding gene. Diseases associated with NDUFV3 include Visual Epilepsy. 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:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 24344204 |
GO:0008137 | NADH dehydrogenase (ubiquinone) activity | TAS,NAS | 9878551 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | HDA | 20833797 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005747 | mitochondrial respiratory chain complex I | IMP,NAS | 9878551 |
GO:0016020 | membrane | IEA | -- |
GO:0070469 | respiratory chain | 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 | ||
5 | FOXA1 transcription factor network |
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:0042775 | mitochondrial ATP synthesis coupled electron transport | IMP | 24746669 |
GO:0055114 | oxidation-reduction process | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | - | - | - | |||||||||||||
SP3: | |||||||||||||||||
SP4: | - | - | |||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NDUFV3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NDUFV3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ndufv3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ndufv3 30 |
|
||
Cow (Bos Taurus) |
Mammalia | NDUFV3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NDUFV3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NDUFV3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NDUFV3 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | ndufv3 31 31 |
|
OneToMany | |
wufl83h06 30 |
|
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781907 | Likely Benign: not provided | 42,893,344(+) | C/G | MISSENSE_VARIANT | |
rs141922962 | Likely Benign: not specified | 42,897,046(+) | A/C | MISSENSE_VARIANT | |
rs368251445 | Uncertain Significance: not provided | 42,904,261(+) | C/T | NONSENSE,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1340851 | CNV | insertion | 17803354 |
esv1737156 | CNV | insertion | 17803354 |
esv2652948 | CNV | insertion | 19546169 |
esv2666871 | CNV | deletion | 23128226 |
esv3568210 | CNV | loss | 25503493 |
esv3584478 | CNV | gain | 24956385 |
nsv187067 | CNV | insertion | 16902084 |
nsv587657 | CNV | gain | 21841781 |
nsv834105 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
visual epilepsy |
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|