NDUFS1 - NADH:ubiquinone oxidoreductase core subunit S1 Gene

Homo sapiens

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

Gene ID: 4719 | Gene type: protein coding

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

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)

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09157	NDUFS1 Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.