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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51079
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase subunit A13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFA13
Synonyms (NCBI Gene) Gene synonyms aliases	B16.6, CDA016, CGI-39, GRIM-19, GRIM19, MC1DN28
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.11
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transf

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs752513525	G>A,T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042006	hsa-miR-484	CLASH	23622248
MIRT1178647	hsa-miR-1207-5p	CLIP-seq
MIRT1178648	hsa-miR-3150a-3p	CLIP-seq
MIRT1178649	hsa-miR-3175	CLIP-seq
MIRT1178650	hsa-miR-3184	CLIP-seq
MIRT1178651	hsa-miR-3616-3p	CLIP-seq
MIRT1178652	hsa-miR-423-5p	CLIP-seq
MIRT1178653	hsa-miR-4688	CLIP-seq
MIRT1178654	hsa-miR-4713-3p	CLIP-seq
MIRT1178655	hsa-miR-4728-5p	CLIP-seq
MIRT1178656	hsa-miR-4743	CLIP-seq
MIRT1178657	hsa-miR-4763-3p	CLIP-seq
MIRT1178658	hsa-miR-486-3p	CLIP-seq
MIRT1178659	hsa-miR-491-5p	CLIP-seq
MIRT1178660	hsa-miR-939	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12867595, 15753091, 17297443, 17500595, 31617661, 32814053
GO:0005524	Function	ATP binding	NAS	10924506
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	10924506
GO:0005737	Component	Cytoplasm	IDA	10924506
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	12611891, 16826196
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:0006915	Process	Apoptotic process	IEA
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	17209039
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	25901006
GO:0035458	Process	Cellular response to interferon-beta	IDA	17297443
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045039	Process	Protein insertion into mitochondrial inner membrane	IDA	23271731
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	IMP	25901006
GO:0045732	Process	Positive regulation of protein catabolic process	IGI	17297443
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12867595
GO:0061133	Function	Endopeptidase activator activity	IC	17297443
GO:0071300	Process	Cellular response to retinoic acid	IDA	17297443
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0098803	Component	Respiratory chain complex	IDA	12611891
GO:1900119	Process	Positive regulation of execution phase of apoptosis	IGI	17297443

MIM	HGNC	e!Ensembl
609435	17194	ENSG00000186010

Protein

UniProt ID

Q9P0J0

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 (Cell death regulatory protein GRIM-19) (Complex I-B16.6) (CI-B16.6) (Gene associated with retinoic and interferon-induced mortality 19 protein) (GRIM-19) (Gene associated with retinoic and IFN

Protein function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory c

PDB

5XTB , 5XTC , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06212	GRIM-19	5 → 129	GRIM-19 protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest expression in heart, skeletal muscle, liver, kidney and placenta. In intestinal mucosa, down-regulated in areas involved in Crohn disease and ulcerative colitis. {ECO:0000269|PubMed:10924506}.

Sequence

MAASKVKQDMPPPGGYGPIDYKRNLPRRGLSGYSMLAIGIGTLIYGHWSIMKWNRERRRL
QIEDFEARIALLPLLQAETDRRTLQMLRENLEEEAIIMKDVPDWKVGESVFHTTRWVPPL
IGELYGLRTTEEALHASHGFMWYT

Sequence length

144

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)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mitochondrial Complex Deficiency	mitochondrial complex i deficiency, Mitochondrial complex 1 deficiency, nuclear type 28	rs752513525	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	23630608, 32444848
Carcinogenesis	Associate	21827581
Carcinogenesis	Inhibit	26810068
Carcinoma Hepatocellular	Inhibit	25550785
Carcinoma Renal Cell	Associate	15841082
Cardiomyopathy Hypertrophic	Associate	32722639
Colorectal Neoplasms	Inhibit	26011333
Encephalopathy Spastic Tetraparesis and Hypogonadism	Associate	32722639
Glioma	Inhibit	21827581
Glioma	Associate	29074558, 34863158
Hearing Loss Sensorineural	Associate	32722639
Heart Failure	Associate	36782329
Infections	Associate	23529854
Leigh Disease	Associate	32722639
Mitochondrial complex I deficiency	Associate	32722639
Mitochondrial Diseases	Associate	32722639
Neoplasm Metastasis	Associate	26810068, 32444848
Neoplasms	Associate	17270022, 21827581, 26011333, 31795990, 34863158
Neoplasms	Inhibit	24498411, 25550785, 26810068, 29074558
Parkinson Disease	Associate	26605748, 37947401
Prostatic Neoplasms	Associate	31795990
Thyroid cancer Hurthle cell	Associate	15841082
Uterine Cervical Neoplasms	Associate	26810068

NDUFA13 (NADH:ubiquinone oxidoreductase subunit A13)