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NDUFA13 - NADH:ubiquinone oxidoreductase subunit A13 Gene

Also Known as B16.6; CDA016; CGI-39; GRIM19; GRIM-19; MC1DN28

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51079

About NDUFA13

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,516,225-19,528,198 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 200.1), kidney (RPKM 160.9) and 25 other tissues.

Summary

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 transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

NDUFA13 Products (1)

mRNA	Protein	Name
NM_015965.7	NP_057049.5	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12867595	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to interferon-beta	IDA IDA: Inferred from direct assay	17297443	GOA
involved in cellular response to retinoic acid	IDA IDA: Inferred from direct assay	17297443	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	25901006	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12867595	GOA
involved in positive regulation of execution phase of apoptosis	IGI IGI: Inferred from genetic interaction	17297443	GOA
involved in positive regulation of protein catabolic process	IGI IGI: Inferred from genetic interaction	17297443	GOA
involved in protein insertion into mitochondrial inner membrane	IDA IDA: Inferred from direct assay	23271731	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10924506	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	17209039	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	12611891	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	10924506	GOA
part of respiratory chain complex	IDA IDA: Inferred from direct assay	12611891	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	12611891	GOA
part of respiratory chain complex I	IMP IMP: Inferred from mutant phenotype	25901006	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDUFA13 Protein Structure

GRIM-19

0
100
144 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13	CI-B16.6

NDUFA13 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NDUFA13	Q9P0J0	HTRA2	Homo sapiens	O43464	Anti Bait CoIP	17297443

Cross: Cross-species interaction Intra: Intraspecies interaction

NDUFA13 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82207	GRIM19 Antibody (YA1952)	WB, IHC-P, ICC/IF	Human

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 28	MC1DN28 Mitochondrial Complex 1 Deficiency, Nuclear Type 28 Nuclear Type Mitochondrial Complex I Deficiency 28
Thyroid Carcinoma, Hurthle Cell	Hurthle Cell Carcinoma Of Thyroid Hurthle Cell Thyroid Neoplasia Hurthle Cell Thyroid Cancer Follicular Thyroid Cancer, Hurthle Cell Type Hurthle Cell Carcinoma Of The Thyroid Thyroid Cancer, Hurthle Cell Thyroid Cancer, Follicular, Hurthle Cell Type Hurthle Cell Thyroid Carcinoma HCTC Hurthle Cell Carcinoma Thyroid Hurthle Cell Carcinoma Adenocarcinoma, Oxyphilic
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Differentiated Thyroid Carcinoma	Papillary Or Follicular Thyroid Carcinoma Well-Differentiated Thyroid Carcinoma Differentiated Thyroid Gland Carcinoma
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Adenomyosis	Endometriosis Of Uterus Endometriosis Interna Endometriosis Of Myometrium Endometriosis, Myometrium Uterine Adenomyosis Adenomyosis Uteri Internal Endometriosis
Thyroid Hurthle Cell Adenoma	Benign Oncocytoma Of The Thyroid Thyroid Gland Oncocytic Adenoma
Chief Cell Adenoma	Chief Cell Adenoma Of Parathyroid Gland
Leukodystrophy	Leukodystrophies
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09126	NDUFA13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NDUFA13	VGNC	VGNC:80633
Mus musculus	NDUFA13	MGD	MGI:1914434
Bos taurus	NDUFA13	VGNC	VGNC:31946
Canis familiaris	NDUFA13	VGNC	VGNC:43686
Rattus norvegicus	NDUFA13	RGD	RGD:6492821
Others	NDUFA13	NCBI