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The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]
NDUFA10 (NADH:Ubiquinone Oxidoreductase Subunit A10) is a Protein Coding gene. Diseases associated with NDUFA10 include Mitochondrial Complex I Deficiency, Nuclear Type 22 and Leigh Syndrome With Leukodystrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and nucleoside kinase activity. An important paralog of this gene is DCK.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J240023 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 283.5 | +0.5 | 482 | 3.1 | CHD2 TBP SP1 MXD4 SIX5 NR2C1 MNT BRCA1 SMAD5 ETS1 | NDUFA10 lnc-GPC1-4 SNED1 GPR35 piR-30959 LOC401040 | |
GH02J240818 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 250 | -794.3 | -794258 | 3.2 | ZBTB10 ZIC2 SIN3A ZNF341 KLF9 YY1 SP2 ZFP37 ZBTB48 TAF1 | HSALNG0023618 HSALNG0023619 NDUFA10 MAB21L4 AGXT MTERF4 KIF1A AQP12A | |
GH02J240027 | Enhancer | 0.2 | Ensembl | 272.2 | -1.6 | -1558 | 0.6 | NDUFA10 lnc-GPC1-4 OR6B2 | ||
GH02J239926 | Enhancer | 1.3 | FANTOM5 ENCODE dbSUPER | 25.1 | +98.1 | 98111 | 2 | TBP ZNF217 BHLHE40 ELF1 ZIC2 CEBPB MAX TAF9B CTBP1 JUND | NDUFA10 OR6B3 HSALNG0023542 HSALNG0023541 LOC401040 | |
GH02J239952 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 40.8 | +71.9 | 71934 | 2.5 | ZIC2 EGR2 MNT ZFHX2 | NDUFA10 HSALNG0023544 lnc-OR6B2-2 LOC401040 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008137 | NADH dehydrogenase (ubiquinone) activity | IEA,NAS | 9878551 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005747 | mitochondrial respiratory chain complex I | IEA,NAS | 9878551 |
GO:0005759 | mitochondrial matrix | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
2 | Pathways of neurodegeneration - multiple diseases | ||
3 | Metabolism |
.40
|
|
4 | Prion disease |
.55
|
|
5 | GABAergic synapse |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006120 | mitochondrial electron transport, NADH to ubiquinone | IEA,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 | |
---|---|---|---|---|---|---|
QH2 |
|
56275-39-9 |
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Sulfide |
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18496-25-8 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NDUFA10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC608244 30 |
|
||
NDUFA10 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | NDUFA10 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ndufa10 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ndufa10 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NDUFA10 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NDUFA10 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NDUFA10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NDUFA10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ndufa10 30 |
|
||
Str.5172 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.25913 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ndufa10 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | ND42 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011130 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | nuo-4 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.645 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
895289 | Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 | 239,957,715(-) |
T/C NM_004544.4(NDUFA10):c.*3403A>G |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
895290 | Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 | 239,957,771(-) |
G/A NM_004544.4(NDUFA10):c.*3347C>T |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
895291 | Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 | 239,957,817(-) |
G/A NM_004544.4(NDUFA10):c.*3301C>T |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
895371 | Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 | 239,958,218(-) |
C/T NM_004544.4(NDUFA10):c.*2900G>A |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
895372 | Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 | 239,958,280(-) |
G/T NM_004544.4(NDUFA10):c.*2838C>A |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2190n106 | CNV | deletion | 24896259 |
esv2166282 | CNV | deletion | 18987734 |
esv2423154 | CNV | deletion | 19546169 |
esv2721886 | CNV | deletion | 23290073 |
esv2721887 | CNV | deletion | 23290073 |
esv3561280 | CNV | deletion | 23714750 |
esv3594789 | CNV | loss | 21293372 |
esv7678 | CNV | loss | 19470904 |
nsv1014414 | CNV | loss | 25217958 |
nsv1072089 | CNV | deletion | 25765185 |
nsv1148694 | CNV | deletion | 26484159 |
nsv213273 | CNV | deletion | 16902084 |
nsv214120 | CNV | deletion | 16902084 |
nsv215214 | CNV | deletion | 16902084 |
nsv3235 | CNV | insertion | 18451855 |
nsv482061 | CNV | gain | 20164927 |
nsv525278 | CNV | gain | 19592680 |
nsv834584 | CNV | gain | 17160897 |
nsv997288 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex i deficiency, nuclear type 22 |
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leigh syndrome with leukodystrophy |
|
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leigh syndrome |
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mitochondrial complex i deficiency, nuclear type 1 |
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