NDUFA13 - NADH:ubiquinone oxidoreductase subunit A13 Gene

Homo sapiens

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

Gene ID: 51079 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12867595	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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