ND1 (mitochondrially encoded NADH dehydrogenase 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 4535
Gene name Mitochondrially encoded NADH dehydrogenase 1
Gene symbol ND1
Synonyms (NCBI Gene)
MTND1
Chromosome MT
Chromosome location -
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT052492 hsa-let-7a-5p CLASH 23622248
MIRT052003 hsa-let-7b-5p CLASH 23622248
MIRT052003 hsa-let-7b-5p CLASH 23622248
MIRT052003 hsa-let-7b-5p CLASH 23622248
MIRT051843 hsa-let-7c-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0003954 Function NADH dehydrogenase activity IBA
GO:0005515 Function Protein binding IPI 12762840, 18486613, 19822128
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
516000 7455 HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P03886
Protein name NADH-ubiquinone oxidoreductase chain 1 (EC 7.1.1.2) (NADH dehydrogenase subunit 1)
Protein function Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:1959619). Essential for the c
PDB 5XTC , 5XTD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00146 NADHdh 4 → 305 NADH dehydrogenase Family
Sequence 
MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEP
LKPATSTITLYITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSG
WASNSNYALIGALRAVAQTISYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWLLLPSWP
LAMMWFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFMAEYTNIIMMNTLTTT
IFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRFRYDQLMHLLWKNFLPLTLAL
LMWYVSMPITISSIPPQT
Sequence length 318
Interactions View interactions

ND1 (-)

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Gene Gene information from NCBI Gene database.
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Entrez ID 6775098
Gene name -
Gene symbol ND1
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions

ND1 (-)

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Gene Gene information from NCBI Gene database.
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Entrez ID 8923209
Gene name -
Gene symbol ND1
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
39
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (39)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMERS DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (185)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Addison Disease Addison`s Disease HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma BEFREE 21926107
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12035616, 15860916 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amblyopia Amblyopia Pubtator 22970697 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15987486, 33191792 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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ND4 12 shared diseasesCerebellar ataxia, Optic atrophy, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Optic neuropathy, Peripheral neuropathy, Postaxial polydactyly, Rod-cone dystrophy 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 14 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Parkinson disease), Disgenet (Optic atrophy), Disgenet (Cleft palate and bilateral cleft lip), CTD (Leber hereditary optic neuropathy), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Optic neuropathy), Disgenet (Peripheral neuropathy) +2 more Related via 12 shared diseases including Cerebellar ataxia, Optic atrophy — evidence mostly Disgenet. ND3 9 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 10 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Parkinson disease), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 9 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. ND2 9 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 12 shared evidence sourcesDisgenet (Alzheimer disease), Disgenet (Cerebellar ataxia), Disgenet (Parkinson disease), Disgenet (Cleft palate and bilateral cleft lip), CTD (Leber hereditary optic neuropathy), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 9 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. ND5 9 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 12 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Parkinson disease), Disgenet (Cleft palate and bilateral cleft lip), CTD (Leber hereditary optic neuropathy), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), CTD (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 9 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. COX1 13 shared diseasesCerebellar ataxia, Optic atrophy, Cleft palate and bilateral cleft lip, Deafness, aminoglycoside-induced, Deafness, nonsyndromic sensorineural, mitochondrial, Deafness, sensorineural, autosomal-mitochondrial type, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly +1 more 7 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 14 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Optic atrophy), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Deafness, aminoglycoside-induced), Disgenet (Deafness, nonsyndromic sensorineural, mitochondrial), Disgenet (Deafness, sensorineural, autosomal-mitochondrial type), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), CTD (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa) +2 more Related via 13 shared diseases including Cerebellar ataxia, Optic atrophy — evidence mostly Disgenet.
Developmental delay Linked via 3 of 5 related genesND4, ND2, ND5 Leigh syndrome Linked via 3 of 5 related genesND3, ND2, ND5 Congenital cardiomyopathy Linked via 2 of 5 related genesND4, ND5 Epilepsy Linked via 2 of 5 related genesND4, ND2 Hearing loss Linked via 2 of 5 related genesND4, ND5