NDUFS1 - NADH:ubiquinone oxidoreductase core subunit S1 Gene

Also Known as CI-75k; MC1DN5; CI-75Kd; PRO1304

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4719

About NDUFS1

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:206,114,817-206,159,444 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 268 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 52.2), kidney (RPKM 30.3) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

NDUFS1 Products (5)

mRNA	Protein	Name
NM_001199981.2	NP_001186910.1	NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor
NM_001199982.2	NP_001186911.1	NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 3
NM_001199983.2	NP_001186912.1	NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 4
NM_001199984.2	NP_001186913.1	NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 5
NM_005006.7	NP_004997.4	NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to NADH dehydrogenase (ubiquinone) activity	IMP IMP: Inferred from mutant phenotype	15824269	GOA
enables NADH dehydrogenase (ubiquinone) activity	IMP IMP: Inferred from mutant phenotype	30879903	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15186778	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular respiration	IMP IMP: Inferred from mutant phenotype	15186778	GOA
involved in mitochondrial electron transport, NADH to ubiquinone	IMP IMP: Inferred from mutant phenotype	31557978	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	16478720	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	15186778	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	30879903	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	16478720	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

NDUFS1 Protein Structure

Fer2_4

NADH-G_4Fe-4S_3

Molybdopterin

NADH_dhqG_C

0
200
400
600
727 a.a.

Protein Preferred Names	Protein Names
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)

NDUFS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82790	NDUFS1 Antibody (YA2535)	WB, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Mitochondrial Complex V Deficiency, Nuclear Type 1	MC5DN1 MC1DN5 Mitochondrial Complex V Deficiency, Atpaf2 Type Mitochondrial Complex I Deficiency, Nuclear Type 5 Atpase Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 5 Nuclear Type Mitochondrial Complex I Deficiency 5 Mitochondrial Complex V Deficiency, Nuclear Type 1 Atpaf2 Deficiency Atp Synthase Deficiency Complex 5 Mitochondrial Respiratory Chain Deficiency Complex V Mitochondrial Respiratory Chain Deficiency Mitochondrial Complex V Deficiency Type 1 Mitochondrial Complex V Deficiency, Nuclear, Type 1 Complex V Deficiency
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
Leigh Syndrome With Leukodystrophy	Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy Leigh Disease With Leukodystrophy
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
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Spastic Paraplegia 25, Autosomal Recessive	SPG25 Hereditary Spastic Paraplegia 25 Autosomal Recessive Spastic Paraplegia Type 25 Spastic Paraplegia 25 Disc Herniation With Spastic Paraplegia, Autosomal Recessive Autosomal Recessive Spastic Paraplegia 25 Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Leukodystrophy, Hypomyelinating, 5	Hypomyelination And Congenital Cataract HLD5 Hypomyelination-Congenital Cataract Syndrome Hypomyelinating Leukodystrophy 5 Hcc Hypomyelination And Congenital Cataract: Hcc Hypomyelination - Congenital Cataract Hypomyelination With Congenital Cataract
Leukodystrophy	Leukodystrophies
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Myopathy	Muscular Diseases Myopathies
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09157	NDUFS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21162	Ndufs1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27678	Ndufs1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NDUFS1	VGNC	VGNC:57390
Mus musculus	NDUFS1	MGD	MGI:2443241
Bos taurus	NDUFS1	VGNC	VGNC:56131
Macaca mulatta	NDUFS1	VGNC	VGNC:75161
Felis catus	NDUFS1	VGNC	VGNC:68444
Rattus norvegicus	NDUFS1	RGD	RGD:1359670
Others	NDUFS1	NCBI