MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1) - Rat Genome Database

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Gene: MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1) Homo sapiens
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Symbol: MT-ND1
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
RGD ID: 1349540
HGNC Page HGNC:7455
Description: Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Part of mitochondrial respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: mitochondrially encoded NADH dehydrogenase 1; MTND1; NADH dehydrogenase subunit 1; NADH dehydrogenase, subunit 1 (complex I)
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT3,307 - 4,262 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT3,307 - 4,262 (+)EnsemblGRCh38hg38GRCh38
GRCh37MT3,307 - 4,262 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT3,308 - 4,264 (+)NCBINCBI36Build 36hg18NCBI36


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-epicatechin-3-O-gallate  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-deoxy-D-glucose  (EXP)
3-methyladenine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-phenylbutyric acid  (EXP)
acetamiprid  (ISO)
acetylsalicylic acid  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP)
Asimicin  (EXP)
atrazine  (EXP,ISO)
berberine  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
capsaicin  (EXP)
carbidopa  (ISO)
CCCP  (EXP)
chloramphenicol  (EXP,ISO)
cisplatin  (ISO)
citraconic acid  (ISO)
clofibrate  (ISO)
clorgyline  (EXP)
crotonaldehyde  (ISO)
desferrioxamine B  (ISO)
dimethyl fumarate  (ISO)
dioxygen  (ISO)
diquat  (ISO)
doxorubicin  (EXP,ISO)
enniatin  (EXP)
ethidium  (EXP)
fenthion  (ISO)
flutamide  (ISO)
gallic acid  (EXP)
gallocatechin  (EXP)
gentamycin  (ISO)
graphene oxide  (ISO)
herbicide  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroxytyrosol  (ISO)
melittin  (ISO)
methcathinone  (EXP)
methidathion  (ISO)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotophos  (ISO)
N-acetyl-L-cysteine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
perfluorooctanoic acid  (ISO)
picloram  (ISO)
potassium dichromate  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
sarpogrelate  (EXP,ISO)
sodium arsenite  (ISO)
sulforaphane  (EXP)
sunitinib  (ISO)
tetrachloromethane  (EXP,ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
trichlopyr  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal central motor function  (IAGP)
Abnormal CSF lactate concentration  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal prosody  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of Krebs cycle metabolism  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alzheimer disease  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the cerebral white matter  (IAGP)
Apnea  (IAGP)
Areflexia of lower limbs  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral cleft lip and palate  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Blindness  (IAGP)
Blurred vision  (IAGP)
Bradykinesia  (IAGP)
Brain atrophy  (IAGP)
Bulbar signs  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac conduction abnormality  (IAGP)
Cardiomyopathy  (IAGP)
Central retinal vessel vascular tortuosity  (IAGP)
Central scotoma  (IAGP)
Centrocecal scotoma  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Colon cancer  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Encephalopathy  (IAGP)
Episodic respiratory distress  (IAGP)
Episodic vomiting  (IAGP)
Erythema  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Fever  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal T2 hyperintense brainstem lesion  (IAGP)
Focal-onset seizure  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hyperalaninemia  (IAGP)
Hyperglycemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertonia  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyperventilation  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypothermia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein concentration  (IAGP)
Increased serum pyruvate  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint swelling  (IAGP)
Lactic acidosis  (IAGP)
Lacticaciduria  (IAGP)
Leber optic atrophy  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lethargy  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Lewy bodies  (IAGP)
Limb ataxia  (IAGP)
Low plasma citrulline  (IAGP)
Low-set ears  (IAGP)
Lower limb muscle weakness  (IAGP)
Mania  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Migraine  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial myopathy  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor delay  (IAGP)
Multiple glomerular cysts  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Ophthalmoparesis  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Personality changes  (IAGP)
Pigmentary retinopathy  (IAGP)
Polyneuropathy  (IAGP)
Poor head control  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postural tremor  (IAGP)
Premature birth  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Proteinuria  (IAGP)
Proximal tubulopathy  (IAGP)
Psychosis  (IAGP)
Psychotic mentation  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent pancreatitis  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Reduced consciousness  (IAGP)
Reduced eye contact  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory insufficiency  (IAGP)
Resting tremor  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Retinal telangiectasia  (IAGP)
Retinal vascular tortuosity  (IAGP)
Rod-cone dystrophy  (IAGP)
Scotoma  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Slow decrease in visual acuity  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Stroke-like episode  (IAGP)
Stuttering  (IAGP)
Sudden loss of visual acuity  (IAGP)
Temporal optic disc pallor  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Typified by incomplete penetrance  (IAGP)
Variable expressivity  (IAGP)
Ventricular preexcitation  (IAGP)
Ventriculomegaly  (IAGP)
Visual field defect  (IAGP)
Visual loss  (IAGP)
Vitiligo  (IAGP)
Vomiting  (IAGP)
Wide intermamillary distance  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Black GC, etal., Br J Ophthalmol. 1996 Oct;80(10):915-7.
2. Variations in mitochondrial DNA copy numbers in MS brains. Blokhin A, etal., J Mol Neurosci. 2008 Jul;35(3):283-7. Epub 2008 Jun 20.
3. Association analysis of PARP1 polymorphisms with Parkinson's disease. Brighina L, etal., Parkinsonism Relat Disord. 2011 Nov;17(9):701-4. Epub 2011 Jul 20.
4. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Brown MD, etal., Hum Genet. 2001 Jul;109(1):33-9.
5. The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy. Canter JA, etal., Pharmacogenomics J. 2008 Feb;8(1):71-7. Epub 2007 Aug 7.
6. Somatic mutations in the mitochondria of rheumatoid arthritis synoviocytes. Da Sylva TR, etal., Arthritis Res Ther. 2005;7(4):R844-51. Epub 2005 Apr 28.
7. Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree. Fingert JH, etal., Ophthalmic Genet. 2007 Mar;28(1):1-7.
8. Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. Guo LJ, etal., Mitochondrion. 2005 Feb;5(1):15-33.
9. A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia. Heidari MM, etal., Cell Mol Neurobiol. 2009 Mar;29(2):225-33. Epub 2008 Sep 19.
10. Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. Hofmann S, etal., Mol Cell Biochem. 1997 Sep;174(1-2):209-13.
11. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Howell N, etal., Am J Hum Genet. 1991 May;48(5):935-42.
12. Association of mitochondrial allele 4216C with increased risk for sepsis-related organ dysfunction and shock after burn injury. Huebinger RM, etal., Shock. 2010 Jan;33(1):19-23.
13. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Huoponen K, etal., Am J Hum Genet. 1991 Jun;48(6):1147-53.
14. Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease. Infante J, etal., J Neurol Sci. 2007 May 15;256(1-2):68-70. Epub 2007 Mar 23.
15. Impaired expression of NADH dehydrogenase subunit 1 and PPARgamma coactivator-1 in skeletal muscle of ZDF rats: restoration by troglitazone. Jove M, etal., J Lipid Res. 2004 Jan;45(1):113-23. Epub 2003 Oct 16.
16. Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. Kim JY, etal., Ann Neurol. 2002 May;51(5):630-4.
17. Metabolic enzyme expression in dopaminergic neurons in Parkinson's disease: an in situ hybridization study. Kingsbury AE, etal., Ann Neurol. 2001 Aug;50(2):142-9.
18. Mutations of the mitochondrial ND1 gene as a cause of MELAS. Kirby DM, etal., J Med Genet. 2004 Oct;41(10):784-9.
19. Mitochondrial ND1 sequence analysis and association of the T4216C mutation with Parkinson's disease. Kirchner SC, etal., Neurotoxicology. 2000 Aug;21(4):441-5.
20. Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy. Kumar M, etal., Mol Vis. 2010 Apr 30;16:782-92.
21. Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation. Liang M, etal., Biochem Biophys Res Commun. 2009 Jun 5;383(3):286-92. Epub 2009 Mar 24.
22. Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population. Liao WQ, etal., Tohoku J Exp Med. 2008 Aug;215(4):377-84.
23. The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension. Liu Y, etal., Biochem Biophys Res Commun. 2008 Mar 28;368(1):18-22. Epub 2008 Jan 14.
24. Differential expression of oxidative phosphorylation genes in patients with Alzheimer's disease: implications for early mitochondrial dysfunction and oxidative damage. Manczak M, etal., Neuromolecular Med. 2004;5(2):147-62.
25. Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder. Munakata K, etal., Genomics. 2004 Dec;84(6):1041-50.
26. Mitochondrial DNA-Associated Leigh Syndrome and NARP PubMed Book Article
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease. Swerdlow RH, etal., J Neurol Sci. 2006 Sep 25;247(2):224-30. Epub 2006 Jun 19.
31. Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic receptor Trp64Arg polymorphisms on cardiac disease in Type 2 Diabetes--an 8-year prospective cohort analysis of 1297 patients. Wang Y, etal., Diabet Med. 2010 Apr;27(4):376-83.
32. N-acetyltransferase 2 polymorphism in patients with diabetes mellitus. Yalin S, etal., Cell Biochem Funct. 2007 Jul-Aug;25(4):407-11.
33. Increased expression of mitochondrial respiratory enzymes in the brain of activated epilepsy-prone El mice. Yamada Y and Nakano K, Brain Res Mol Brain Res. 1999 Nov 10;73(1-2):186-8.
34. WY14643 improves left ventricular myocardial mitochondrial and systolic functions in obese rats under chronic persistent hypoxia via the PPARα pathway. Yan J, etal., Life Sci. 2021 Feb 1;266:118888. doi: 10.1016/j.lfs.2020.118888. Epub 2020 Dec 10.
35. Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes. Yu P, etal., Chin Med J (Engl). 2004 Jul;117(7):985-9.
36. Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families. Zhou X, etal., Invest Ophthalmol Vis Sci. 2012 Jul 9;53(8):4586-94. doi: 10.1167/iovs.11-9109.
Additional References at PubMed
PMID:1959619   PMID:3921850   PMID:6402020   PMID:11418099   PMID:12100083   PMID:12111463   PMID:12133550   PMID:12611891   PMID:12618962   PMID:12670626   PMID:12756609   PMID:12762840  
PMID:14580860   PMID:14671420   PMID:14680844   PMID:14759509   PMID:15038995   PMID:15108120   PMID:15110773   PMID:15505787   PMID:15696471   PMID:15860916   PMID:15952130   PMID:15975594  
PMID:16137960   PMID:16335786   PMID:16414144   PMID:16604388   PMID:16759180   PMID:16828917   PMID:16884381   PMID:17035175   PMID:17045122   PMID:17200023   PMID:17209039   PMID:17429906  
PMID:17434142   PMID:17562939   PMID:17619138   PMID:17717444   PMID:18082471   PMID:18239645   PMID:18486613   PMID:18502698   PMID:18504678   PMID:18513491   PMID:18590963   PMID:18626009  
PMID:18701018   PMID:18709563   PMID:19050702   PMID:19066432   PMID:19199242   PMID:19199265   PMID:19276764   PMID:19299420   PMID:19527690   PMID:19555656   PMID:19758471   PMID:19822128  
PMID:20137661   PMID:20176558   PMID:20197120   PMID:20211276   PMID:20301353   PMID:20301403   PMID:20301411   PMID:20643099   PMID:21329181   PMID:21625124   PMID:21653829   PMID:21852384  
PMID:21988832   PMID:22079202   PMID:22241583   PMID:22517755   PMID:22653752   PMID:22990118   PMID:23464625   PMID:23530560   PMID:23834081   PMID:24002810   PMID:24105702   PMID:24163135  
PMID:24344204   PMID:24430572   PMID:24643264   PMID:25194554   PMID:25626582   PMID:25863085   PMID:25871488   PMID:25896597   PMID:26058080   PMID:26186194   PMID:26201854   PMID:26344197  
PMID:26929434   PMID:27177320   PMID:27449621   PMID:27457485   PMID:27984598   PMID:28094300   PMID:28129444   PMID:28380382   PMID:28514442   PMID:28844695   PMID:29117863   PMID:29133631  
PMID:29133642   PMID:29774306   PMID:30030361   PMID:30463901   PMID:30597069   PMID:31056421   PMID:31810328   PMID:31871319   PMID:31974161   PMID:31981894   PMID:32011699   PMID:32723871  
PMID:32861874   PMID:32877691   PMID:32931837   PMID:33035689   PMID:33284036   PMID:33300189   PMID:33338886   PMID:33475980   PMID:33823124   PMID:33840063   PMID:33961781   PMID:34060999  
PMID:34135385   PMID:34186245   PMID:34279772   PMID:36180527   PMID:36717040   PMID:37221696  


Genomics

Comparative Map Data
MT-ND1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT3,307 - 4,262 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT3,307 - 4,262 (+)EnsemblGRCh38hg38GRCh38
GRCh37MT3,307 - 4,262 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT3,308 - 4,264 (+)NCBINCBI36Build 36hg18NCBI36
mt-Nd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT2,751 - 3,707 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblMT2,751 - 3,707 (+)EnsemblGRCm39 Ensembl
GRCm38MT2,751 - 3,707 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT2,751 - 3,707 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT2,751 - 3,707 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Mt-nd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2MT2,740 - 3,694 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT2,740 - 3,694 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT2,740 - 3,694 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblMT2,740 - 3,694 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0MT2,740 - 3,694 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblMT2,740 - 3,694 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0MT2,740 - 3,694 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4MT2,740 - 3,694 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Cytogenetic MapMT NCBI
MT-ND1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1MT2,747 - 3,702 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblMT2,747 - 3,703 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaMT2,747 - 3,702 (+)NCBIDog10K_Boxer_Tasha
MT-ND1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblMT3,922 - 4,876 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1MT3,922 - 4,876 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2MT3,922 - 4,876 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in MT-ND1
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_012920.1:m.3460G>A single nucleotide variant Leber optic atrophy [RCV000010370]|Leigh syndrome [RCV000143998]|MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 [RCV000735416]|Mitochondrial disease [RCV003319165]|not provided [RCV000757484] ChrMT:3460 [GRCh38]
ChrMT:3460 [GRCh37]
pathogenic|not provided
m.4160T>C single nucleotide variant Leber optic atrophy [RCV000010372] ChrMT:4160 [GRCh38]
ChrMT:4160 [GRCh37]
pathogenic
m.4171C>A single nucleotide variant Leber optic atrophy [RCV000010384]|Mitochondrial disease [RCV002260596] ChrMT:4171 [GRCh38]
ChrMT:4171 [GRCh37]
pathogenic|likely pathogenic|uncertain significance
m.3733G>A single nucleotide variant Leber optic atrophy [RCV000010389]|Mitochondrial disease [RCV002221475] ChrMT:3733 [GRCh38]
ChrMT:3733 [GRCh37]
pathogenic|uncertain significance
NC_012920.1(MT-ND1):m.3902_3908inv inversion MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 [RCV000010383]|Mitochondrial disease [RCV002260595] ChrMT:3902..3908 [GRCh38]
ChrMT:3902..3908 [GRCh37]
pathogenic|likely pathogenic
m.4216T>C single nucleotide variant Leber optic atrophy [RCV000010373]|Leigh syndrome [RCV000853749]|not provided [RCV000709875] ChrMT:4216 [GRCh38]
ChrMT:4216 [GRCh37]
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
m.3394T>C single nucleotide variant Leber optic atrophy [RCV000010375]|Leigh syndrome [RCV000853650]|not provided [RCV000507319] ChrMT:3394 [GRCh38]
ChrMT:3394 [GRCh37]
pathogenic|benign
m.3397A>G single nucleotide variant Alzheimer disease [RCV000010376]|Leigh syndrome [RCV000853653]|Parkinson disease, late-onset [RCV000010377] ChrMT:3397 [GRCh38]
ChrMT:3397 [GRCh37]
pathogenic|benign
m.4136A>G single nucleotide variant Leber optic atrophy [RCV000010378]|Leigh syndrome [RCV000853739] ChrMT:4136 [GRCh38]
ChrMT:4136 [GRCh37]
pathogenic|benign
m.3308T>C single nucleotide variant Carcinoma of colon [RCV000010379]|Leigh syndrome [RCV000853627]|SUDDEN INFANT DEATH SYNDROME [RCV000010380]|not specified [RCV000239184] ChrMT:3308 [GRCh38]
ChrMT:3308 [GRCh37]
pathogenic|benign|likely benign
m.3308T>G single nucleotide variant Leigh syndrome [RCV000853629]|SUDDEN INFANT DEATH SYNDROME [RCV000010381] ChrMT:3308 [GRCh38]
ChrMT:3308 [GRCh37]
pathogenic|likely benign
m.3796A>G single nucleotide variant Dystonia, adult-onset [RCV000010382]|Leigh syndrome [RCV000853708]|not provided [RCV000992363] ChrMT:3796 [GRCh38]
ChrMT:3796 [GRCh37]
pathogenic|benign
m.3697G>A single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010385]|Leber optic atrophy [RCV000056168]|Leber optic atrophy and dystonia [RCV000010386]|Migraine [RCV003298030]|Mitochondrial disease [RCV002221474] ChrMT:3697 [GRCh38]
ChrMT:3697 [GRCh37]
pathogenic|likely pathogenic
m.3946G>A single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010387]|Leber optic atrophy [RCV001542704]|Leigh syndrome [RCV000853718] ChrMT:3946 [GRCh38]
ChrMT:3946 [GRCh37]
pathogenic|likely pathogenic
m.3949T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010388] ChrMT:3949 [GRCh38]
ChrMT:3949 [GRCh37]
pathogenic
m.3388C>A single nucleotide variant Leigh syndrome [RCV000853648]|Mitochondrial non-syndromic sensorineural hearing loss [RCV000022892] ChrMT:3388 [GRCh38]
ChrMT:3388 [GRCh37]
pathogenic|benign
m.3635G>A single nucleotide variant Leber optic atrophy [RCV000055707]|Mitochondrial disease [RCV002291214] ChrMT:3635 [GRCh38]
ChrMT:3635 [GRCh37]
pathogenic|likely pathogenic
m.3700G>A single nucleotide variant Leber optic atrophy [RCV000055708]|Mitochondrial disease [RCV002221484]|Visual loss [RCV000415448] ChrMT:3700 [GRCh38]
ChrMT:3700 [GRCh37]
pathogenic|uncertain significance|not provided
m.4025C>T single nucleotide variant Leber optic atrophy [RCV000055709]|Leigh syndrome [RCV000853724] ChrMT:4025 [GRCh38]
ChrMT:4025 [GRCh37]
pathogenic|benign|not provided
m.3376G>A single nucleotide variant Leber optic atrophy [RCV000056167]|Mitochondrial disease [RCV002260605] ChrMT:3376 [GRCh38]
ChrMT:3376 [GRCh37]
pathogenic|uncertain significance|not provided
NC_012920.1:m.3481G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853660]|Leigh syndrome [RCV000143999] ChrMT:3481 [GRCh38]
ChrMT:3481 [GRCh37]
pathogenic|not provided
NC_012920.1:m.3890G>A single nucleotide variant Leigh syndrome [RCV000144000]|Mitochondrial disease [RCV002260617]|not specified [RCV002285011] ChrMT:3890 [GRCh38]
ChrMT:3890 [GRCh37]
pathogenic|likely pathogenic|not provided
NC_012920.1:m.3928G>C single nucleotide variant Leigh syndrome [RCV000144023] ChrMT:3928 [GRCh38]
ChrMT:3928 [GRCh37]
pathogenic|uncertain significance
NC_012920.1:m.3843A>G single nucleotide variant not provided [RCV000224229] ChrMT:3843 [GRCh38]
ChrMT:3843 [GRCh37]
likely benign
NC_012920.1:m.4023T>C single nucleotide variant not provided [RCV000224402] ChrMT:4023 [GRCh38]
ChrMT:4023 [GRCh37]
likely benign
NC_012920.1:m.4218T>C single nucleotide variant not provided [RCV000224431] ChrMT:4218 [GRCh38]
ChrMT:4218 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3447A>G single nucleotide variant not provided [RCV000224536] ChrMT:3447 [GRCh38]
ChrMT:3447 [GRCh37]
benign
NC_012920.1:m.3396T>C single nucleotide variant not provided [RCV000224662] ChrMT:3396 [GRCh38]
ChrMT:3396 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3990C>T single nucleotide variant not provided [RCV000224690] ChrMT:3990 [GRCh38]
ChrMT:3990 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4219G>A single nucleotide variant Leigh syndrome [RCV000853750]|not provided [RCV000224714] ChrMT:4219 [GRCh38]
ChrMT:4219 [GRCh37]
benign|likely benign
NC_012920.1:m.3582C>T single nucleotide variant not provided [RCV000224803] ChrMT:3582 [GRCh38]
ChrMT:3582 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3796A>T single nucleotide variant Leigh syndrome [RCV000853709]|not provided [RCV000224953] ChrMT:3796 [GRCh38]
ChrMT:3796 [GRCh37]
benign|likely benign
NC_012920.1(MT-ND1):m.3849G>A single nucleotide variant not provided [RCV000224955] ChrMT:3849 [GRCh38]
ChrMT:3849 [GRCh37]
benign|likely benign
NC_012920.1:m.3918G>C single nucleotide variant not specified [RCV000223701] ChrMT:3918 [GRCh38]
ChrMT:3918 [GRCh37]
uncertain significance
NC_012920.1:m.4135T>C single nucleotide variant Leigh syndrome [RCV000853738]|not specified [RCV000223794] ChrMT:4135 [GRCh38]
ChrMT:4135 [GRCh37]
benign|uncertain significance
NC_012920.1:m.3548T>C single nucleotide variant Leigh syndrome [RCV000853676]|not specified [RCV000223756] ChrMT:3548 [GRCh38]
ChrMT:3548 [GRCh37]
benign|uncertain significance
NC_012920.1:m.3907G>A single nucleotide variant not specified [RCV000223871] ChrMT:3907 [GRCh38]
ChrMT:3907 [GRCh37]
uncertain significance
NC_012920.1:m.3991A>G single nucleotide variant not provided [RCV000757485] ChrMT:3991 [GRCh38]
ChrMT:3991 [GRCh37]
uncertain significance
NC_012920.1:m.3505A>G single nucleotide variant Leigh syndrome [RCV000853666]|not provided [RCV000992358]|not specified [RCV000238711] ChrMT:3505 [GRCh38]
ChrMT:3505 [GRCh37]
benign
NC_012920.1:m.3624A>G single nucleotide variant Global developmental delay [RCV000408941] ChrMT:3624 [GRCh38]
ChrMT:3624 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4132G>A single nucleotide variant Leigh syndrome [RCV000853737]|not provided [RCV000426885] ChrMT:4132 [GRCh38]
ChrMT:4132 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.3498C>T single nucleotide variant not provided [RCV000435868] ChrMT:3498 [GRCh38]
ChrMT:3498 [GRCh37]
likely benign
NC_012920.1:m.4137C>T single nucleotide variant not provided [RCV000514068] ChrMT:4137 [GRCh38]
ChrMT:4137 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3307A>T single nucleotide variant Leigh syndrome [RCV000853626] ChrMT:3307 [GRCh38]
ChrMT:3307 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3320A>G single nucleotide variant Leigh syndrome [RCV000853634] ChrMT:3320 [GRCh38]
ChrMT:3320 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3328C>T single nucleotide variant Leigh syndrome [RCV000853635] ChrMT:3328 [GRCh38]
ChrMT:3328 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3350T>C single nucleotide variant Leigh syndrome [RCV000853642] ChrMT:3350 [GRCh38]
ChrMT:3350 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3368T>C single nucleotide variant Leigh syndrome [RCV000853645] ChrMT:3368 [GRCh38]
ChrMT:3368 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3380G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853646] ChrMT:3380 [GRCh38]
ChrMT:3380 [GRCh37]
pathogenic
NC_012920.1(MT-ND1):m.3399A>T single nucleotide variant Leigh syndrome [RCV000853655] ChrMT:3399 [GRCh38]
ChrMT:3399 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3434A>G single nucleotide variant Leigh syndrome [RCV000853659] ChrMT:3434 [GRCh38]
ChrMT:3434 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3492A>C single nucleotide variant Leigh syndrome [RCV000853662] ChrMT:3492 [GRCh38]
ChrMT:3492 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3511A>G single nucleotide variant Leigh syndrome [RCV000853669] ChrMT:3511 [GRCh38]
ChrMT:3511 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3523A>G single nucleotide variant Leigh syndrome [RCV000853671] ChrMT:3523 [GRCh38]
ChrMT:3523 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3526G>A single nucleotide variant Leigh syndrome [RCV000853672] ChrMT:3526 [GRCh38]
ChrMT:3526 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3569C>T single nucleotide variant Leigh syndrome [RCV000853678] ChrMT:3569 [GRCh38]
ChrMT:3569 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3571C>T single nucleotide variant Leigh syndrome [RCV000853679] ChrMT:3571 [GRCh38]
ChrMT:3571 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3622C>A single nucleotide variant Leigh syndrome [RCV000853684] ChrMT:3622 [GRCh38]
ChrMT:3622 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3643G>A single nucleotide variant Leigh syndrome [RCV000853687] ChrMT:3643 [GRCh38]
ChrMT:3643 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3652A>G single nucleotide variant Leigh syndrome [RCV000853689] ChrMT:3652 [GRCh38]
ChrMT:3652 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3661T>G single nucleotide variant Leigh syndrome [RCV000853691] ChrMT:3661 [GRCh38]
ChrMT:3661 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3670G>A single nucleotide variant Leigh syndrome [RCV000853692]|Ptosis [RCV000993795] ChrMT:3670 [GRCh38]
ChrMT:3670 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3701C>T single nucleotide variant Leigh syndrome [RCV000853693] ChrMT:3701 [GRCh38]
ChrMT:3701 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3736G>A single nucleotide variant Leigh syndrome [RCV000853699] ChrMT:3736 [GRCh38]
ChrMT:3736 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3745G>A single nucleotide variant Leigh syndrome [RCV000853700] ChrMT:3745 [GRCh38]
ChrMT:3745 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3749T>C single nucleotide variant Leigh syndrome [RCV000853702] ChrMT:3749 [GRCh38]
ChrMT:3749 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3751A>G single nucleotide variant Leigh syndrome [RCV000853703] ChrMT:3751 [GRCh38]
ChrMT:3751 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3775A>T single nucleotide variant Leigh syndrome [RCV000853706] ChrMT:3775 [GRCh38]
ChrMT:3775 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3793T>C single nucleotide variant Leigh syndrome [RCV000853707] ChrMT:3793 [GRCh38]
ChrMT:3793 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3887A>G single nucleotide variant Leigh syndrome [RCV000853713]|See cases [RCV001198276] ChrMT:3887 [GRCh38]
ChrMT:3887 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3910G>A single nucleotide variant Leigh syndrome [RCV000853715] ChrMT:3910 [GRCh38]
ChrMT:3910 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3937T>C single nucleotide variant Leigh syndrome [RCV000853716] ChrMT:3937 [GRCh38]
ChrMT:3937 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4012A>G single nucleotide variant Leigh syndrome [RCV000853720] ChrMT:4012 [GRCh38]
ChrMT:4012 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4013C>T single nucleotide variant Leigh syndrome [RCV000853721] ChrMT:4013 [GRCh38]
ChrMT:4013 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4021A>G single nucleotide variant Leigh syndrome [RCV000853722] ChrMT:4021 [GRCh38]
ChrMT:4021 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4024A>G single nucleotide variant Leigh syndrome [RCV000853723] ChrMT:4024 [GRCh38]
ChrMT:4024 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4094C>T single nucleotide variant Leigh syndrome [RCV000853733] ChrMT:4094 [GRCh38]
ChrMT:4094 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4165C>G single nucleotide variant Leigh syndrome [RCV000853743] ChrMT:4165 [GRCh38]
ChrMT:4165 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4193T>C single nucleotide variant Leigh syndrome [RCV000853746] ChrMT:4193 [GRCh38]
ChrMT:4193 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4226T>C single nucleotide variant Leigh syndrome [RCV000853752] ChrMT:4226 [GRCh38]
ChrMT:4226 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3555T>C single nucleotide variant not provided [RCV000992362] ChrMT:3555 [GRCh38]
ChrMT:3555 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3535T>C single nucleotide variant not provided [RCV000992360] ChrMT:3535 [GRCh38]
ChrMT:3535 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3915G>A single nucleotide variant not provided [RCV000992364] ChrMT:3915 [GRCh38]
ChrMT:3915 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4167C>T single nucleotide variant not provided [RCV000992367] ChrMT:4167 [GRCh38]
ChrMT:4167 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4248T>C single nucleotide variant not provided [RCV000992369] ChrMT:4248 [GRCh38]
ChrMT:4248 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4158A>G single nucleotide variant not provided [RCV000992366] ChrMT:4158 [GRCh38]
ChrMT:4158 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3513C>T single nucleotide variant not provided [RCV000992359] ChrMT:3513 [GRCh38]
ChrMT:3513 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3921C>A single nucleotide variant not provided [RCV000992365] ChrMT:3921 [GRCh38]
ChrMT:3921 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3313A>G single nucleotide variant Leigh syndrome [RCV000853631] ChrMT:3313 [GRCh38]
ChrMT:3313 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3340C>T single nucleotide variant Leigh syndrome [RCV000853639] ChrMT:3340 [GRCh38]
ChrMT:3340 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3419A>G single nucleotide variant Leigh syndrome [RCV000853656] ChrMT:3419 [GRCh38]
ChrMT:3419 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3496G>A single nucleotide variant Leigh syndrome [RCV000853663] ChrMT:3496 [GRCh38]
ChrMT:3496 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3508A>G single nucleotide variant Leigh syndrome [RCV000853667] ChrMT:3508 [GRCh38]
ChrMT:3508 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3628A>T single nucleotide variant Leigh syndrome [RCV000853685] ChrMT:3628 [GRCh38]
ChrMT:3628 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3866T>C single nucleotide variant Leigh syndrome [RCV000853712] ChrMT:3866 [GRCh38]
ChrMT:3866 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4055T>C single nucleotide variant Leigh syndrome [RCV000853727] ChrMT:4055 [GRCh38]
ChrMT:4055 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4153G>A single nucleotide variant Leigh syndrome [RCV000853742] ChrMT:4153 [GRCh38]
ChrMT:4153 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3308delinsAC indel Leigh syndrome [RCV000853628] ChrMT:3308 [GRCh38]
ChrMT:3308 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3338T>C single nucleotide variant Leigh syndrome [RCV000853638] ChrMT:3338 [GRCh38]
ChrMT:3338 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3391G>A single nucleotide variant Leigh syndrome [RCV000853649] ChrMT:3391 [GRCh38]
ChrMT:3391 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3395A>G single nucleotide variant Leigh syndrome [RCV000853652] ChrMT:3395 [GRCh38]
ChrMT:3395 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3427G>A single nucleotide variant Leigh syndrome [RCV000853658] ChrMT:3427 [GRCh38]
ChrMT:3427 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3488T>C single nucleotide variant Leigh syndrome [RCV000853661] ChrMT:3488 [GRCh38]
ChrMT:3488 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3502T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV002252257]|Mitochondrial myopathy with reversible cytochrome C oxidase deficiency [RCV000853665] ChrMT:3502 [GRCh38]
ChrMT:3502 [GRCh37]
likely pathogenic
NC_012920.1(MT-ND1):m.3547A>G single nucleotide variant Leigh syndrome [RCV000853675] ChrMT:3547 [GRCh38]
ChrMT:3547 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3565A>G single nucleotide variant Leigh syndrome [RCV000853677] ChrMT:3565 [GRCh38]
ChrMT:3565 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3592G>A single nucleotide variant Leigh syndrome [RCV000853681] ChrMT:3592 [GRCh38]
ChrMT:3592 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3593T>C single nucleotide variant Leigh syndrome [RCV000853682] ChrMT:3593 [GRCh38]
ChrMT:3593 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3607G>A single nucleotide variant Leigh syndrome [RCV000853683] ChrMT:3607 [GRCh38]
ChrMT:3607 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3640G>A single nucleotide variant Leigh syndrome [RCV000853686] ChrMT:3640 [GRCh38]
ChrMT:3640 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3764C>T single nucleotide variant Leigh syndrome [RCV000853704] ChrMT:3764 [GRCh38]
ChrMT:3764 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3772A>G single nucleotide variant Leigh syndrome [RCV000853705] ChrMT:3772 [GRCh38]
ChrMT:3772 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3892A>G single nucleotide variant Leigh syndrome [RCV000853714] ChrMT:3892 [GRCh38]
ChrMT:3892 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3992C>T single nucleotide variant Leigh syndrome [RCV000853719] ChrMT:3992 [GRCh38]
ChrMT:3992 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4048G>A single nucleotide variant Leigh syndrome [RCV000853726] ChrMT:4048 [GRCh38]
ChrMT:4048 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4058C>T single nucleotide variant Leigh syndrome [RCV000853728] ChrMT:4058 [GRCh38]
ChrMT:4058 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4105A>G single nucleotide variant Leigh syndrome [RCV000853734] ChrMT:4105 [GRCh38]
ChrMT:4105 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4148G>A single nucleotide variant Leigh syndrome [RCV000853741] ChrMT:4148 [GRCh38]
ChrMT:4148 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4234A>G single nucleotide variant Leigh syndrome [RCV000853755] ChrMT:4234 [GRCh38]
ChrMT:4234 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3669A>G single nucleotide variant not specified [RCV001663784] ChrMT:3669 [GRCh38]
ChrMT:3669 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3335T>C single nucleotide variant Leigh syndrome [RCV000853636] ChrMT:3335 [GRCh38]
ChrMT:3335 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3344T>C single nucleotide variant Leigh syndrome [RCV000853640] ChrMT:3344 [GRCh38]
ChrMT:3344 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3357G>C single nucleotide variant Leigh syndrome [RCV000853643]|Mitochondrial disease [RCV001796800]|not provided [RCV001249404] ChrMT:3357 [GRCh38]
ChrMT:3357 [GRCh37]
uncertain significance|not provided
NC_012920.1(MT-ND1):m.3385A>G single nucleotide variant Leigh syndrome [RCV000853647] ChrMT:3385 [GRCh38]
ChrMT:3385 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3398T>C single nucleotide variant Leigh syndrome [RCV000853654] ChrMT:3398 [GRCh38]
ChrMT:3398 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3653T>C single nucleotide variant Leigh syndrome [RCV000853690] ChrMT:3653 [GRCh38]
ChrMT:3653 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3715G>A single nucleotide variant Leigh syndrome [RCV000853698] ChrMT:3715 [GRCh38]
ChrMT:3715 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4079A>G single nucleotide variant Leigh syndrome [RCV000853729] ChrMT:4079 [GRCh38]
ChrMT:4079 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4084G>A single nucleotide variant Leigh syndrome [RCV000853731] ChrMT:4084 [GRCh38]
ChrMT:4084 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4172T>A single nucleotide variant Leigh syndrome [RCV000853744] ChrMT:4172 [GRCh38]
ChrMT:4172 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4205T>C single nucleotide variant Leigh syndrome [RCV000853747] ChrMT:4205 [GRCh38]
ChrMT:4205 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4231A>G single nucleotide variant Leigh syndrome [RCV000853753] ChrMT:4231 [GRCh38]
ChrMT:4231 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4247T>C single nucleotide variant Leigh syndrome [RCV000853758] ChrMT:4247 [GRCh38]
ChrMT:4247 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4258A>G single nucleotide variant Leigh syndrome [RCV000853759] ChrMT:4258 [GRCh38]
ChrMT:4258 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3316G>C single nucleotide variant Leigh syndrome [RCV000853632] ChrMT:3316 [GRCh38]
ChrMT:3316 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3316G>A single nucleotide variant Leigh syndrome [RCV000853633] ChrMT:3316 [GRCh38]
ChrMT:3316 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3337G>A single nucleotide variant Leigh syndrome [RCV000853637] ChrMT:3337 [GRCh38]
ChrMT:3337 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3349A>G single nucleotide variant Leigh syndrome [RCV000853641] ChrMT:3349 [GRCh38]
ChrMT:3349 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3358G>A single nucleotide variant Leigh syndrome [RCV000853644] ChrMT:3358 [GRCh38]
ChrMT:3358 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3395A>C single nucleotide variant Leigh syndrome [RCV000853651] ChrMT:3395 [GRCh38]
ChrMT:3395 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3421G>A single nucleotide variant Leigh syndrome [RCV000853657] ChrMT:3421 [GRCh38]
ChrMT:3421 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3497C>T single nucleotide variant Leigh syndrome [RCV000853664] ChrMT:3497 [GRCh38]
ChrMT:3497 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3509T>C single nucleotide variant Leigh syndrome [RCV000853668] ChrMT:3509 [GRCh38]
ChrMT:3509 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3520A>G single nucleotide variant Leigh syndrome [RCV000853670] ChrMT:3520 [GRCh38]
ChrMT:3520 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3533C>T single nucleotide variant Leigh syndrome [RCV000853673] ChrMT:3533 [GRCh38]
ChrMT:3533 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3644T>C single nucleotide variant Leigh syndrome [RCV000853688] ChrMT:3644 [GRCh38]
ChrMT:3644 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3746C>T single nucleotide variant Leigh syndrome [RCV000853701] ChrMT:3746 [GRCh38]
ChrMT:3746 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3808A>G single nucleotide variant Leigh syndrome [RCV000853710] ChrMT:3808 [GRCh38]
ChrMT:3808 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4029C>A single nucleotide variant Leigh syndrome [RCV000853725] ChrMT:4029 [GRCh38]
ChrMT:4029 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4093A>G single nucleotide variant Leigh syndrome [RCV000853732] ChrMT:4093 [GRCh38]
ChrMT:4093 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4123A>G single nucleotide variant Leigh syndrome [RCV000853735] ChrMT:4123 [GRCh38]
ChrMT:4123 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4225A>G single nucleotide variant Leigh syndrome [RCV000853751] ChrMT:4225 [GRCh38]
ChrMT:4225 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4238T>C single nucleotide variant Leigh syndrome [RCV000853756] ChrMT:4238 [GRCh38]
ChrMT:4238 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3310C>T single nucleotide variant Leigh syndrome [RCV000853630] ChrMT:3310 [GRCh38]
ChrMT:3310 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3535T>A single nucleotide variant Leigh syndrome [RCV000853674] ChrMT:3535 [GRCh38]
ChrMT:3535 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3571del deletion Mitochondrial myopathy with reversible cytochrome C oxidase deficiency [RCV000853680] ChrMT:3566 [GRCh38]
ChrMT:3566 [GRCh37]
likely pathogenic
NC_012920.1(MT-ND1):m.3709G>A single nucleotide variant Leigh syndrome [RCV000853694] ChrMT:3709 [GRCh38]
ChrMT:3709 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3710C>T single nucleotide variant Leigh syndrome [RCV000853695] ChrMT:3710 [GRCh38]
ChrMT:3710 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3712G>A single nucleotide variant Leigh syndrome [RCV000853696] ChrMT:3712 [GRCh38]
ChrMT:3712 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3713T>C single nucleotide variant Leigh syndrome [RCV000853697] ChrMT:3713 [GRCh38]
ChrMT:3713 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3865A>G single nucleotide variant Leigh syndrome [RCV000853711] ChrMT:3865 [GRCh38]
ChrMT:3865 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3943A>G single nucleotide variant Leigh syndrome [RCV000853717] ChrMT:3943 [GRCh38]
ChrMT:3943 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.4082T>C single nucleotide variant Leigh syndrome [RCV000853730] ChrMT:4082 [GRCh38]
ChrMT:4082 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4129A>G single nucleotide variant Leigh syndrome [RCV000853736] ChrMT:4129 [GRCh38]
ChrMT:4129 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4142G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853740] ChrMT:4142 [GRCh38]
ChrMT:4142 [GRCh37]
likely pathogenic
NC_012920.1(MT-ND1):m.4180A>G single nucleotide variant Leigh syndrome [RCV000853745] ChrMT:4180 [GRCh38]
ChrMT:4180 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4211T>C single nucleotide variant Leigh syndrome [RCV000853748] ChrMT:4211 [GRCh38]
ChrMT:4211 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4232T>C single nucleotide variant Leigh syndrome [RCV000853754] ChrMT:4232 [GRCh38]
ChrMT:4232 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4243A>G single nucleotide variant Leigh syndrome [RCV000853757] ChrMT:4243 [GRCh38]
ChrMT:4243 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3761C>A single nucleotide variant Mitochondrial disease [RCV000984483]|See cases [RCV003232165] ChrMT:3761 [GRCh38]
ChrMT:3761 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1(MT-ND1):m.3552T>A single nucleotide variant not provided [RCV000992361] ChrMT:3552 [GRCh38]
ChrMT:3552 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4242C>T single nucleotide variant not provided [RCV000992368] ChrMT:4242 [GRCh38]
ChrMT:4242 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3693G>A single nucleotide variant not specified [RCV001663809] ChrMT:3693 [GRCh38]
ChrMT:3693 [GRCh37]
benign
NC_012920.1(MT-ND1):m.3504T>C single nucleotide variant not provided [RCV001288249] ChrMT:3504 [GRCh38]
ChrMT:3504 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3472T>C single nucleotide variant not specified [RCV002247999] ChrMT:3472 [GRCh38]
ChrMT:3472 [GRCh37]
uncertain significance
NC_012920.1:m.1555A>G single nucleotide variant Aminoglycoside-induced deafness [RCV000010254]|Aminoglycoside-induced deafness [RCV000505667]|Gentamicin response [RCV000722074]|Hearing loss, sensorineural, autosomal-mitochondrial type [RCV003445067]|Mitochondrial disease [RCV003153300]|Mitochondrial non-syndromic sensorineural hearing loss [RCV000010255]|Rare genetic deafness [RCV000844677]|Restrictive cardiomyopathy [RCV000010256]|amikacin response - Toxicity [RCV001787375]|aminoglycoside antibacterials response - Toxicity [RCV001787321]|gentamicin response - Toxicity [RCV001787374]|kanamycin response - Toxicity [RCV001787376]|not provided [RCV000224935]|streptomycin response - Toxicity [RCV001787377]|tobramycin response - Toxicity [RCV001787378] ChrMT:1555 [GRCh38]
ChrMT:1555 [GRCh37]
pathogenic|likely pathogenic|drug response
NC_012920.1(MT-ND1):m.3685T>C single nucleotide variant Leigh syndrome [RCV001797044] ChrMT:3685 [GRCh38]
ChrMT:3685 [GRCh37]
likely pathogenic
NC_012920.1(MT-ND1):m.3995A>G single nucleotide variant not specified [RCV002248000] ChrMT:3995 [GRCh38]
ChrMT:3995 [GRCh37]
uncertain significance
NC_012920.1:m.8993T>G single nucleotide variant Cerebellar ataxia [RCV000191106]|Hypertelorism [RCV000414771]|Leber optic atrophy [RCV001542706]|Leigh syndrome [RCV000010273]|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 [RCV000754646]|Mitochondrial disease [RCV000495419]|NARP syndrome [RCV000010274]|Rod-cone dystrophy [RCV001376274]|not provided [RCV000224643]|not specified [RCV002285006] ChrMT:8993 [GRCh38]
ChrMT:8993 [GRCh37]
pathogenic|likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:128
Count of miRNA genes:124
Interacting mature miRNAs:128
Transcripts:ENST00000361390
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D3S2893E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37396,336,547 - 96,336,688UniSTSGRCh37
GRCh37MT2,062 - 2,203UniSTSGRCh37
Build 36397,819,237 - 97,819,378RGDNCBI36
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q11.2UniSTS
HuRef393,705,899 - 93,706,040UniSTS
D17S1473E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT3,740 - 3,834UniSTSGRCh37
Cytogenetic Map17p12UniSTS
Cytogenetic Map13q14UniSTS
PMC31832P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT2,806 - 2,946UniSTSGRCh37
GRCh371110,529,460 - 10,529,600UniSTSGRCh37
Build 361110,486,036 - 10,486,176RGDNCBI36
Celera1110,651,202 - 10,651,342RGD
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map6q24.2UniSTS
NIB250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,529,522 - 10,529,694UniSTSGRCh37
GRCh37MT2,712 - 2,884UniSTSGRCh37
Build 361110,486,098 - 10,486,270RGDNCBI36
Celera1110,651,264 - 10,651,436RGD
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6q24.2UniSTS
Stanford-G3 RH Map11334.0UniSTS
GeneMap99-G3 RH Map11334.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2429 2915 1716 622 1862 464 4352 2189 3706 414 1437 1603 171 1204 2787 3
Medium 3 69 7 86 3 4 2 4 11 5 1 1
Low
Below cutoff

Sequence

Nucleotide Sequences
GenBank Nucleotide J01415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000361390   ⟹   ENSP00000354687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblMT3,307 - 4,262 (+)Ensembl
Protein Sequences
Protein RefSeqs YP_003024026 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58943 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354687
  ENSP00000354687.2
GenBank Protein P03886 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: ENSP00000354687   ⟸   ENST00000361390

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P03886-F1-model_v2 AlphaFold P03886 1-318 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7455 AgrOrtholog
COSMIC MT-ND1 COSMIC
Ensembl Genes ENSG00000198888 Ensembl, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361390.2 UniProtKB/Swiss-Prot
GTEx ENSG00000198888 GTEx
HGNC ID HGNC:7455 ENTREZGENE
Human Proteome Map MT-ND1 Human Proteome Map
InterPro NADH_UbQ_OxRdtase_su1/FPO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADH_UbQ_OxRdtase_su1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4535 ENTREZGENE
OMIM 516000 OMIM
PANTHER NADH-UBIQUINONE OXIDOREDUCTASE CHAIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11432 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NADHdh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31259 PharmGKB
PROSITE COMPLEX1_ND1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COMPLEX1_ND1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A059RPU0 ENTREZGENE, UniProtKB/TrEMBL
  A0A343LJL6 ENTREZGENE, UniProtKB/TrEMBL
  A3FP01 ENTREZGENE, UniProtKB/TrEMBL
  A4ZKS2 ENTREZGENE, UniProtKB/TrEMBL
  A4ZM51 ENTREZGENE, UniProtKB/TrEMBL
  A4ZYI1 ENTREZGENE, UniProtKB/TrEMBL
  A6ZF31 ENTREZGENE, UniProtKB/TrEMBL
  B2D481 ENTREZGENE, UniProtKB/TrEMBL
  B2XQK2 ENTREZGENE, UniProtKB/TrEMBL
  C0JKH6 ENTREZGENE
  C3W5L0 ENTREZGENE, UniProtKB/TrEMBL
  C5MM18 ENTREZGENE, UniProtKB/TrEMBL
  D8L4V9 ENTREZGENE, UniProtKB/TrEMBL
  G4W6N9 ENTREZGENE, UniProtKB/TrEMBL
  H9R3Y7 ENTREZGENE, UniProtKB/TrEMBL
  NU1M_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15IG8 ENTREZGENE, UniProtKB/TrEMBL
  Q2HKM8 ENTREZGENE, UniProtKB/TrEMBL
  Q37523 ENTREZGENE
  Q4GCQ6 ENTREZGENE, UniProtKB/TrEMBL
  Q4GL31 ENTREZGENE, UniProtKB/TrEMBL
  Q85KW9 ENTREZGENE, UniProtKB/TrEMBL
  U5Z754 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary C0JKH6 UniProtKB/Swiss-Prot
  Q37523 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-26 MT-ND1  mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1  MT-ND1  mitochondrially encoded NADH dehydrogenase 1  Symbol and/or name change 19259463 PROVISIONAL
2015-05-19 MT-ND1  mitochondrially encoded NADH dehydrogenase 1  ND1    Symbol and/or name change 5135510 APPROVED
2014-01-07 ND1  mitochondrially encoded NADH dehydrogenase 1  MT-ND1    Symbol and/or name change 5135510 APPROVED
2012-10-09 MT-ND1  mitochondrially encoded NADH dehydrogenase 1  ND1    Symbol and/or name change 5135510 APPROVED
2012-07-13 ND1    MT-ND1  mitochondrially encoded NADH dehydrogenase 1  Symbol and/or name change 5135510 APPROVED