Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4719
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol NDUFS1   Gene   UCSC   Ensembl
Aliases CI-75Kd, CI-75k, PRO1304
Gene name NADH:ubiquinone oxidoreductase core subunit S1
Alternate names NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), complex I 75kDa subunit, complex I, mitochondrial respiratory chain, 75-kD subunit, mitochondrial NADH-ubiquinone ,
Gene location 2q33.3 (206159518: 206121970)     Exons: 20     NC_000002.12
Gene summary(Entrez) 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]
OMIM 157655

Protein Summary

Protein general information P28331  

Name: NADH ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.5.3) (EC 1.6.99.3) (Complex I 75kD) (CI 75kD)

Length: 727  Mass: 79,468

Sequence MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQIPRFCYHERLSVAGNC
RMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQDQSMMFGNDR
SRFLEGKRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDI
CPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNRVDSDTLCTEEVFPTA
GAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRKSWLHNDLKVALIGSPVDLTYTYDHLGDSPK
ILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAA
LDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLV
NQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQAVEEPSIC
Structural information
Protein Domains
2Fe-2S (30-108)
4Fe-4S (245-301)
Interpro:  IPR001041 IPR012675 IPR006656 IPR006963 IPR000283 IPR010228 IPR019574 IPR015405
Prosite:   PS51085 PS51669 PS00641 PS00642 PS00643

Pfam:  
PF00384 PF10588 PF09326
CDD:   cd00207
MINT:   3011123
STRING:   ENSP00000392709;
Other Databases GeneCards:  NDUFS1;  Malacards:  NDUFS1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
IPI molecular_function
GO:0005739 mitochondrion
IDA cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
IDA cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
IMP cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
NAS cellular_component
GO:0005758 mitochondrial intermembra
ne space
IDA cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0006120 mitochondrial electron tr
ansport, NADH to ubiquino
ne
NAS biological_process
GO:0006120 mitochondrial electron tr
ansport, NADH to ubiquino
ne
TAS biological_process
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
NAS molecular_function
GO:0008637 apoptotic mitochondrial c
hanges
IDA biological_process
GO:0009055 electron carrier activity
NAS molecular_function
GO:0032981 mitochondrial respiratory
chain complex I assembly
TAS biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0045333 cellular respiration
IMP biological_process
GO:0045333 cellular respiration
IMP biological_process
GO:0046034 ATP metabolic process
IMP biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0051537 2 iron, 2 sulfur cluster
binding
IEA molecular_function
GO:0051539 4 iron, 4 sulfur cluster
binding
IEA molecular_function
GO:0051881 regulation of mitochondri
al membrane potential
IMP biological_process
GO:0051881 regulation of mitochondri
al membrane potential
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0003954 NADH dehydrogenase activi
ty
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
IDA cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
IMP cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
NAS cellular_component
GO:0005758 mitochondrial intermembra
ne space
IDA cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0006120 mitochondrial electron tr
ansport, NADH to ubiquino
ne
NAS biological_process
GO:0006120 mitochondrial electron tr
ansport, NADH to ubiquino
ne
TAS biological_process
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IEA molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IEA molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
NAS molecular_function
GO:0008637 apoptotic mitochondrial c
hanges
IDA biological_process
GO:0009055 electron carrier activity
IEA molecular_function
GO:0009055 electron carrier activity
NAS molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016651 oxidoreductase activity,
acting on NAD(P)H
IEA molecular_function
GO:0032981 mitochondrial respiratory
chain complex I assembly
TAS biological_process
GO:0042773 ATP synthesis coupled ele
ctron transport
IEA biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0045333 cellular respiration
IMP biological_process
GO:0045333 cellular respiration
IMP biological_process
GO:0046034 ATP metabolic process
IMP biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0051536 iron-sulfur cluster bindi
ng
IEA molecular_function
GO:0051536 iron-sulfur cluster bindi
ng
IEA molecular_function
GO:0051537 2 iron, 2 sulfur cluster
binding
IEA molecular_function
GO:0051539 4 iron, 4 sulfur cluster
binding
IEA molecular_function
GO:0051881 regulation of mitochondri
al membrane potential
IMP biological_process
GO:0051881 regulation of mitochondri
al membrane potential
IMP biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0070469 respiratory chain
IEA cellular_component
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005739 mitochondrion
IDA cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
IDA cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
IMP cellular_component
GO:0005747 mitochondrial respiratory
chain complex I
NAS cellular_component
GO:0005758 mitochondrial intermembra
ne space
IDA cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0006120 mitochondrial electron tr
ansport, NADH to ubiquino
ne
NAS biological_process
GO:0006120 mitochondrial electron tr
ansport, NADH to ubiquino
ne
TAS biological_process
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
NAS molecular_function
GO:0008637 apoptotic mitochondrial c
hanges
IDA biological_process
GO:0009055 electron carrier activity
NAS molecular_function
GO:0032981 mitochondrial respiratory
chain complex I assembly
TAS biological_process
GO:0045333 cellular respiration
IMP biological_process
GO:0045333 cellular respiration
IMP biological_process
GO:0046034 ATP metabolic process
IMP biological_process
GO:0051881 regulation of mitochondri
al membrane potential
IMP biological_process
GO:0051881 regulation of mitochondri
al membrane potential
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0072593 reactive oxygen species m
etabolic process
IMP biological_process
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function
GO:0008137 NADH dehydrogenase (ubiqu
inone) activity
IMP molecular_function

KEGG pathways

hsa01100  Metabolic pathways
hsa04932  Non-alcoholic fatty liver disease
hsa05016  Huntington's disease
hsa05010  Alzheimer's disease
hsa05012  Parkinson's disease
hsa04723  Retrograde endocannabinoid signaling
hsa00190  Oxidative phosphorylation

Diseases

Associated diseases References
Endometriosis (ovarian) PMID: 25298284
Cancer PMID: 19064571
Ovarian endometriosis PMID: 25298284
Endometriosis-associated ovarian carcinoma, Ovarian endometrioid cancer (OEC) and ovarian clear cell cancer (OCCC) INFBASE25298284
Ovarian endometriosis INFBASE25298284

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25298284 Endometrio
sis (ovari
an)

50 (30 EMS-asso
ciated ovarian
carcinoma (18 O
varian endometr
ioid cancer, 12
ovarian clear
cell cancer), 2
0 normal endome
trial specimens
)
RASSF2
RUNX3
GSTZ1
CYP2A
GBGT1
NDUFS1
SPOCK2
ADAM22
and TRIM36
Show abstract