Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4694
Gene name	NADH:ubiquinone oxidoreductase subunit A1
Gene symbol	NDUFA1
Synonyms (NCBI Gene)	CI-MWFEMC1DN12MWFEZNF183
Chromosome	X
Chromosome location	Xq24
Summary	The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix sp

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029273	hsa-miR-26b-5p	Microarray	19088304
MIRT043792	hsa-miR-328-3p	CLASH	23622248
MIRT1178639	hsa-miR-1909	CLIP-seq
MIRT1178640	hsa-miR-3132	CLIP-seq
MIRT1178641	hsa-miR-3187-3p	CLIP-seq
MIRT1178642	hsa-miR-4424	CLIP-seq
MIRT1178643	hsa-miR-4529-5p	CLIP-seq
MIRT1178644	hsa-miR-4682	CLIP-seq
MIRT1178645	hsa-miR-4690-5p	CLIP-seq
MIRT1178646	hsa-miR-4705	CLIP-seq
MIRT1178639	hsa-miR-1909	CLIP-seq
MIRT1178640	hsa-miR-3132	CLIP-seq
MIRT1178641	hsa-miR-3187-3p	CLIP-seq
MIRT1178643	hsa-miR-4529-5p	CLIP-seq
MIRT1178645	hsa-miR-4690-5p	CLIP-seq
MIRT1178639	hsa-miR-1909	CLIP-seq
MIRT1178640	hsa-miR-3132	CLIP-seq
MIRT1178641	hsa-miR-3187-3p	CLIP-seq
MIRT1178642	hsa-miR-4424	CLIP-seq
MIRT1178643	hsa-miR-4529-5p	CLIP-seq
MIRT1178644	hsa-miR-4682	CLIP-seq
MIRT1178645	hsa-miR-4690-5p	CLIP-seq
MIRT1178639	hsa-miR-1909	CLIP-seq
MIRT2579235	hsa-miR-2115	CLIP-seq
MIRT1178640	hsa-miR-3132	CLIP-seq
MIRT1178641	hsa-miR-3187-3p	CLIP-seq
MIRT1178642	hsa-miR-4424	CLIP-seq
MIRT1178643	hsa-miR-4529-5p	CLIP-seq
MIRT1178644	hsa-miR-4682	CLIP-seq
MIRT1178645	hsa-miR-4690-5p	CLIP-seq
MIRT1178646	hsa-miR-4705	CLIP-seq
MIRT2579236	hsa-miR-516a-3p	CLIP-seq
MIRT2579237	hsa-miR-873	CLIP-seq
MIRT1178639	hsa-miR-1909	CLIP-seq
MIRT2579235	hsa-miR-2115	CLIP-seq
MIRT1178640	hsa-miR-3132	CLIP-seq
MIRT1178641	hsa-miR-3187-3p	CLIP-seq
MIRT1178642	hsa-miR-4424	CLIP-seq
MIRT1178643	hsa-miR-4529-5p	CLIP-seq
MIRT1178644	hsa-miR-4682	CLIP-seq
MIRT1178645	hsa-miR-4690-5p	CLIP-seq
MIRT1178646	hsa-miR-4705	CLIP-seq
MIRT2579236	hsa-miR-516a-3p	CLIP-seq
MIRT2579237	hsa-miR-873	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	16729965
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	TAS	10200266
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	17209039
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 17209039, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300078	7683	ENSG00000125356

O15239

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 (Complex I-MWFE) (CI-MWFE) (NADH-ubiquinone oxidoreductase MWFE 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
PF15879	MWFE	2 → 56	NADH-ubiquinone oxidoreductase MWFE subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Primarily expressed in heart and skeletal muscle.

Sequence

MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRY
YVSKGLENID

Sequence length

Interactions

View interactions

	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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex I deficiency, nuclear type 12	Pathogenic	rs104894884, rs104894885	RCV000012414 RCV000012415

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2428220	RCV005914504
Cervical cancer	Benign	rs5910698	RCV005921471
Cholangiocarcinoma	Benign	rs2428220	RCV005914505
Familial cancer of breast	Benign	rs2428220, rs5910698	RCV005914503 RCV005921467
Familial pancreatic carcinoma	Benign	rs5910698	RCV005921473
Hepatocellular carcinoma	Benign	rs5910698	RCV005921468
Intellectual disability	Benign; Likely benign	rs1801316	RCV005624711
Lymphoma	Benign	rs5910698	RCV005921475
Malignant tumor of esophagus	Benign	rs5910698	RCV005921469
Mitochondrial complex I deficiency	Benign; Likely benign	rs1801316	RCV000030653
NDUFA1-related disorder	Uncertain significance; Benign; Likely benign	rs1367830417, rs1801316	RCV003911517 RCV003924870
Neurofibromatosis, type 1	Benign; Likely benign	rs1801316	RCV005624710
Nonpapillary renal cell carcinoma	Benign	rs5910698	RCV005921470
Ovarian cancer	Benign	rs5910698	RCV005921472
Ovarian serous cystadenocarcinoma	Benign	rs752544534	RCV005930574
Sarcoma	Benign	rs5910698	RCV005921474
Thyroid cancer, nonmedullary, 1	Likely benign	rs372308417	RCV005930557
Uterine corpus endometrial carcinoma	Benign	rs5910698	RCV005921476

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	30478411, 35131137, 37545529
Alzheimer Disease	Inhibit	37334608
Cognitive Dysfunction	Associate	37334608
Dementia	Associate	35131137
Friedreich Ataxia	Associate	24705504
Glioma	Associate	34863158
Leigh Disease	Associate	35131137
Mitochondrial complex I deficiency	Associate	20153825, 35131137
Mitochondrial Diseases	Associate	35131137
Neoplasms	Associate	34863158
Neurodegenerative Diseases	Associate	35131137

NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)