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NDUFS1

GENERAL INFORMATION

Gene name

 NDUFS1

Gene description

 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues, most abundant in heart muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
CAB070844
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 NDUFS1 (HGNC Symbol)

Synonyms

 CI-75k

Description

 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 q33.3

Chromosome location (bp)

 206114817 - 206159603

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000023228 (version 83.38)

Entrez gene

 4719

UniProt

 P28331 (UniProt - Evidence at protein level)

neXtProt

 NX_P28331

Antibodypedia

 NDUFS1 antibodies

PROTEIN BROWSER
NDUFS1-001
NDUFS1-002
NDUFS1-003
NDUFS1-004
NDUFS1-005
NDUFS1-007
NDUFS1-008
NDUFS1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NDUFS1-001
ENSP00000233190
ENST00000233190
P28331 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
E5KRK5 [Target identity:100%; Query identity:100%]
Mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit; NADH dehydrogenase (Ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), isoform CRA_b
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005747 [mitochondrial respiratory chain complex I]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0006120 [mitochondrial electron transport, NADH to ubiquinone]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0008637 [apoptotic mitochondrial changes]
GO:0009055 [electron carrier activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0022904 [respiratory electron transport chain]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045333 [cellular respiration]
GO:0046034 [ATP metabolic process]
GO:0046872 [metal ion binding]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0051881 [regulation of mitochondrial membrane potential]
GO:0055114 [oxidation-reduction process]
GO:0072593 [reactive oxygen species metabolic process]
Show all
 727 aa
79.5 kDa 		No 0
NDUFS1-002
ENSP00000409689
ENST00000432169
P28331 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005747 [mitochondrial respiratory chain complex I]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0006120 [mitochondrial electron transport, NADH to ubiquinone]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0008637 [apoptotic mitochondrial changes]
GO:0009055 [electron carrier activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0022904 [respiratory electron transport chain]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045333 [cellular respiration]
GO:0046034 [ATP metabolic process]
GO:0046872 [metal ion binding]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0051881 [regulation of mitochondrial membrane potential]
GO:0055114 [oxidation-reduction process]
GO:0072593 [reactive oxygen species metabolic process]
Show all
 616 aa
67.5 kDa 		No 0
NDUFS1-003
ENSP00000409766
ENST00000440274
P28331 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005747 [mitochondrial respiratory chain complex I]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0006120 [mitochondrial electron transport, NADH to ubiquinone]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0008637 [apoptotic mitochondrial changes]
GO:0009055 [electron carrier activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0022904 [respiratory electron transport chain]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045333 [cellular respiration]
GO:0046034 [ATP metabolic process]
GO:0046872 [metal ion binding]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0051881 [regulation of mitochondrial membrane potential]
GO:0055114 [oxidation-reduction process]
GO:0072593 [reactive oxygen species metabolic process]
Show all
 691 aa
75.4 kDa 		No 0
NDUFS1-004
ENSP00000400976
ENST00000457011
B4DJ81 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; cDNA FLJ60586, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.5.3)
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0051536 [iron-sulfur cluster binding]
GO:0055114 [oxidation-reduction process]
Show all
 611 aa
66.9 kDa 		No 0
NDUFS1-005
ENSP00000397760
ENST00000423725
P28331 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005747 [mitochondrial respiratory chain complex I]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0006120 [mitochondrial electron transport, NADH to ubiquinone]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0008637 [apoptotic mitochondrial changes]
GO:0009055 [electron carrier activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0022904 [respiratory electron transport chain]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045333 [cellular respiration]
GO:0046034 [ATP metabolic process]
GO:0046872 [metal ion binding]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0051881 [regulation of mitochondrial membrane potential]
GO:0055114 [oxidation-reduction process]
GO:0072593 [reactive oxygen species metabolic process]
Show all
 670 aa
73.5 kDa 		No 0
NDUFS1-007
ENSP00000399912
ENST00000449699
P28331 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
E5KRK5 [Target identity:100%; Query identity:100%]
Mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit; NADH dehydrogenase (Ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), isoform CRA_b
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005747 [mitochondrial respiratory chain complex I]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0006120 [mitochondrial electron transport, NADH to ubiquinone]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0008637 [apoptotic mitochondrial changes]
GO:0009055 [electron carrier activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0022904 [respiratory electron transport chain]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045333 [cellular respiration]
GO:0046034 [ATP metabolic process]
GO:0046872 [metal ion binding]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0051881 [regulation of mitochondrial membrane potential]
GO:0055114 [oxidation-reduction process]
GO:0072593 [reactive oxygen species metabolic process]
Show all
 727 aa
79.5 kDa 		No 0
NDUFS1-008
ENSP00000389413
ENST00000454195
C9JPQ5 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0009055 [electron carrier activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0051536 [iron-sulfur cluster binding]
GO:0055114 [oxidation-reduction process]
Show all
 130 aa
14.2 kDa 		No 0
NDUFS1-201
ENSP00000392709
ENST00000455934
P28331 [Direct mapping]
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005747 [mitochondrial respiratory chain complex I]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0006120 [mitochondrial electron transport, NADH to ubiquinone]
GO:0008137 [NADH dehydrogenase (ubiquinone) activity]
GO:0008637 [apoptotic mitochondrial changes]
GO:0009055 [electron carrier activity]
GO:0016020 [membrane]
GO:0016491 [oxidoreductase activity]
GO:0016651 [oxidoreductase activity, acting on NAD(P)H]
GO:0022904 [respiratory electron transport chain]
GO:0042773 [ATP synthesis coupled electron transport]
GO:0043209 [myelin sheath]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045333 [cellular respiration]
GO:0046034 [ATP metabolic process]
GO:0046872 [metal ion binding]
GO:0051536 [iron-sulfur cluster binding]
GO:0051537 [2 iron, 2 sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0051881 [regulation of mitochondrial membrane potential]
GO:0055114 [oxidation-reduction process]
GO:0072593 [reactive oxygen species metabolic process]
Show all
 741 aa
81 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.