Gene Gene information from NCBI Gene database.
Entrez ID 4705
Gene name NADH:ubiquinone oxidoreductase subunit A10
Gene symbol NDUFA10
Synonyms (NCBI Gene)
CI-42KDCI-42kMC1DN22
Chromosome 2
Chromosome location 2q37.3
Summary 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 th
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs199648872 G>C,T Likely-pathogenic, uncertain-significance Intron variant, genic downstream transcript variant
rs387906872 T>C Pathogenic Initiator codon variant, missense variant, non coding transcript variant
rs387906873 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057519414 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057519415 ->TTA Pathogenic Coding sequence variant, inframe insertion, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
832
miRTarBase ID miRNA Experiments Reference
MIRT051977 hsa-let-7b-5p CLASH 23622248
MIRT039891 hsa-miR-615-3p CLASH 23622248
MIRT612132 hsa-miR-634 HITS-CLIP 23824327
MIRT612131 hsa-miR-1226-3p HITS-CLIP 23824327
MIRT612130 hsa-miR-6501-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603835 7684 ENSG00000130414
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95299
Protein name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial (Complex I-42kD) (CI-42kD) (NADH-ubiquinone oxidoreductase 42 kDa subunit)
Protein function Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
PDB 5XTC , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01712 dNK 60 288 Deoxynucleoside kinase Domain
Sequence
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Complex I biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
378
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex I deficiency, nuclear type 22 Likely pathogenic; Pathogenic rs1230530438, rs1057519414, rs1057519415, rs387906872, rs387906873 RCV005230490
RCV000412613
RCV000412484
RCV000023345
RCV000023346
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Leigh syndrome Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign rs1265529467, rs2083411, rs13848, rs147876332, rs35462421, rs113012830, rs199648872, rs138479490, rs140776586, rs35715497, rs374970309, rs11541494, rs7573892, rs77216981, rs564992184
View all (140 more)
RCV001334279
RCV000276426
RCV000392330
RCV000355965
RCV000987070
RCV000273080
RCV000388170
RCV000289165
RCV001141067
RCV001142922
RCV001141189
RCV000328287
RCV000407125
RCV000364536
RCV000293130
RCV000362023
RCV000346747
RCV000392087
RCV000330773
RCV000382246
RCV000320098
RCV000365252
RCV000263165
RCV000301141
RCV000279233
RCV000282070
RCV000325291
RCV000266639
RCV000378087
RCV000281251
RCV000403818
RCV000355304
RCV000294050
RCV000342719
RCV000337345
RCV000297697
RCV000407422
RCV000367481
RCV000309561
RCV000366444
RCV000327138
RCV000321400
RCV000386938
RCV000290264
RCV000305494
RCV000392831
RCV000279849
RCV000373549
RCV000273905
RCV000279152
RCV000349229
RCV000361689
RCV000317150
RCV000311748
RCV000343470
RCV000300216
RCV000405985
RCV000408158
RCV000310655
RCV000263944
RCV000276578
RCV000345362
RCV000405302
RCV000300653
RCV000260857
RCV000325365
RCV000295440
RCV000345516
RCV000302356
RCV005358037
RCV001139463
RCV001139465
RCV001140237
RCV001140239
RCV001140242
RCV001142083
RCV001137326
RCV001137327
RCV001137329
RCV001139559
RCV001139561
RCV001140329
RCV001142177
RCV001142178
RCV001137438
RCV001137441
RCV001139658
RCV001139660
RCV001140420
RCV001140423
RCV001140424
RCV001142283
RCV001142285
RCV001137544
RCV001137546
RCV001139765
RCV001139767
RCV001139768
RCV001140536
RCV001140537
RCV001142382
RCV001142384
RCV001142386
RCV001137642
RCV001137643
RCV001139860
RCV001139861
RCV001139863
RCV001139865
RCV001140644
RCV001140645
RCV001140648
RCV001140650
RCV001142516
RCV001142518
RCV001142520
RCV001137752
RCV001137753
RCV001139992
RCV001139994
RCV001140748
RCV001140751
RCV001140753
RCV001142615
RCV001142617
RCV001137858
RCV001137861
RCV001137862
RCV001140107
RCV001140110
RCV001140111
RCV001140873
RCV001142721
RCV001142722
RCV001142724
RCV001137977
RCV001138394
RCV001138396
RCV001140972
RCV001140974
RCV001142821
RCV001142823
RCV001138079
RCV001138081
RCV001138504
RCV001138506
RCV001141070
RCV001141072
RCV001142924
RCV001138190
RCV001138193
RCV001138195
RCV001138617
RCV001138075
RCV001141065
Malignant tumor of esophagus Likely benign rs201255198 RCV005896450
Mitochondrial complex I deficiency Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs138479490, rs886055819, rs886055827, rs200760509, rs559797625, rs886055816, rs539829771, rs577432343, rs138899326 RCV000344109
RCV000383047
RCV000379454
RCV000360176
RCV000335419
RCV000316615
RCV000267063
RCV000350479
RCV000313673
Mitochondrial complex I deficiency, nuclear type 1 Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs2083411, rs13848, rs147876332, rs35462421, rs113012830, rs199648872, rs140776586, rs35715497, rs374970309, rs11541494, rs7573892, rs77216981, rs564992184, rs886055815, rs886055817
View all (129 more)
RCV000326842
RCV000340422
RCV000275112
RCV001138077
RCV000381649
RCV000333603
RCV001141068
RCV001142921
RCV001141188
RCV000378198
RCV000313749
RCV000312144
RCV000350383
RCV000305026
RCV000384939
RCV000305816
RCV000285514
RCV000374741
RCV000310551
RCV000318301
RCV000392325
RCV000334827
RCV000272597
RCV000363605
RCV000321071
RCV000319847
RCV000363196
RCV000263762
RCV000386093
RCV000376401
RCV000284687
RCV000407435
RCV000336034
RCV000315183
RCV000275465
RCV000269623
RCV000360871
RCV000268599
RCV000292644
RCV000401972
RCV000372049
RCV000370813
RCV000373766
RCV000294263
RCV000353317
RCV000371039
RCV000283761
RCV000370283
RCV000351219
RCV000408151
RCV000321470
RCV000334028
RCV000288049
RCV000340471
RCV000353226
RCV000272672
RCV000408270
RCV000408266
RCV000405266
RCV001139464
RCV001139466
RCV001140238
RCV001140240
RCV001140241
RCV001142082
RCV001137325
RCV001137328
RCV001137330
RCV001139560
RCV001139562
RCV001140328
RCV001142176
RCV001142179
RCV001137439
RCV001137440
RCV001139659
RCV001139661
RCV001140421
RCV001140422
RCV001140425
RCV001142284
RCV001142286
RCV001137543
RCV001137545
RCV001139764
RCV001139766
RCV001139769
RCV001140535
RCV001140538
RCV001142383
RCV001142385
RCV001142387
RCV001137641
RCV001137644
RCV001139859
RCV001139862
RCV001139864
RCV001139866
RCV001140643
RCV001140646
RCV001140647
RCV001140649
RCV001142515
RCV001142517
RCV001142519
RCV001137751
RCV001137754
RCV001139991
RCV001139993
RCV001140749
RCV001140750
RCV001140752
RCV001142614
RCV001142616
RCV001137859
RCV001137860
RCV001137863
RCV001140108
RCV001140109
RCV001140112
RCV001140872
RCV001142720
RCV001142723
RCV001142725
RCV001137976
RCV001138393
RCV001138395
RCV001140973
RCV001140975
RCV001142820
RCV001142822
RCV001138078
RCV001138080
RCV001138505
RCV001138507
RCV001141069
RCV001141071
RCV001142923
RCV001138191
RCV001138192
RCV001138194
RCV001138618
RCV001138076
RCV001141066
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abruptio Placentae Associate 30194050
Alzheimer Disease Associate 26125932, 37373264
COVID 19 Associate 33173052
Dementia Associate 37373264
Diabetes Mellitus Type 2 Associate 21775499
Leigh Disease Associate 21150889, 36675121
Mitochondrial complex I deficiency Associate 21150889, 37373264
Neoplasms Inhibit 34124242
Prostatic Neoplasms Associate 34124242
Schizophrenia Associate 28117656