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A repository for genes associated with endometriosis

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Gene id 1026
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CDKN1A   Gene   UCSC   Ensembl
Aliases CAP20, CDKN1, CIP1, MDA-6, P21, SDI1, WAF1, p21CIP1
Gene name cyclin dependent kinase inhibitor 1A
Alternate names cyclin-dependent kinase inhibitor 1, CDK-interacting protein 1, CDK-interaction protein 1, DNA synthesis inhibitor, cyclin-dependent kinase inhibitor 1A (p21, Cip1), melanoma differentiation associated protein 6, wild-type p53-activated fragment 1,
Gene location 6p21.2 (36676459: 36687338)     Exons: 6     NC_000006.12
Gene summary(Entrez) This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]
OMIM 116899

SNPs

rs1801270

Strand:    Allele origin: A(unknown)/C(germline,unknown)  Allele change: A/C/T   Mutation type: snp

CM000668.2   g.36684194C>A
CM000668.2   g.36684194C>T
NC_000006.11   g.36651971C>A
NC_000006.12   g.36684194C>A
NC_000006.12   g.36684194C>T
NG_009364.1   g.10513C>A
NG_009364.1   g.10513C>T
NM_000389.4   c.93C>A
NM_000389.4   c.93C>T
NM_001220777.1   c.93C>A
NM_001220777.1   c.93C>T
NM_001220778.1   c.93C>A
NM_001220778.1   c.93C>T
NM_001291549.1   c.195C>A
NM_001291549.1   c.195C>T
NM_078467.2   c.93C>A
NM_078467.2   c.93C>T
NP_000380.1   p.Ser31=
NP_000380.1   p.Ser31Arg
NP_001207706.1   p.Ser31=
NP_001207706.1   p.Ser31Arg
NP_001207707.1   p.Ser31=
NP_001207707.1   p.Ser31Arg
NP_001278478.1   p.Ser65=
NP_001278478.1   p.Ser65Arg
NP_510867.1   p.Ser31=
NP_510867.1   p.Ser31Arg
XP_005248844.1   p.Ser65Arg
Clinical Significance: Benign

Protein Summary

Protein general information P38936  

Name: Cyclin dependent kinase inhibitor 1 (CDK interacting protein 1) (Melanoma differentiation associated protein 6) (MDA 6) (p21)

Length: 164  Mass: 18,119

Tissue specificity: Expressed in all adult tissues, with 5-fold lower levels observed in the brain.

Sequence MSEPAGDVRQNPCGSKACRRLFGPVDSEQLSRDCDALMAGCIQEARERWNFDFVTETPLEGDFAWERVRGLGLPK
LYLPTGPRRGRDELGGGRRPGTSPALLQGTAEEDHVDLSLSCTLVPRSGEQAEGSPGGPGDSQGRKRRQTSMTDF
YHSKRRLIFSKRKP
Structural information

Motifs
PIP-box K+4(140-164)
Nuclear localization(141-156)
Interpro:  IPR003175 IPR029841

Pfam:  
PF02234

PDB:  
1AXC 2ZVV 2ZVW 4RJF 5E0U
PDBsum:   1AXC 2ZVV 2ZVW 4RJF 5E0U

DIP:  
246
MINT:   104203
STRING:   ENSP00000244741;
Other Databases GeneCards:  CDKN1A;  Malacards:  CDKN1A

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000079 regulation of cyclin-depe
ndent protein serine/thre
onine kinase activity
TAS biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
TAS biological_process
GO:0000086 G2/M transition of mitoti
c cell cycle
IMP biological_process
GO:0000307 cyclin-dependent protein
kinase holoenzyme complex
IDA cellular_component
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
IDA biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007265 Ras protein signal transd
uction
IEP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0009636 response to toxic substan
ce
IEA biological_process
GO:0010165 response to X-ray
IEA biological_process
GO:0010243 response to organonitroge
n compound
IEA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0019912 cyclin-dependent protein
kinase activating kinase
activity
IDA molecular_function
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030332 cyclin binding
IEA molecular_function
GO:0030890 positive regulation of B
cell proliferation
IEA biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031668 cellular response to extr
acellular stimulus
IMP biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0033158 regulation of protein imp
ort into nucleus, translo
cation
IEA biological_process
GO:0034198 cellular response to amin
o acid starvation
IMP biological_process
GO:0034605 cellular response to heat
IEA biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042771 intrinsic apoptotic signa
ling pathway in response
to DNA damage by p53 clas
s mediator
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043068 positive regulation of pr
ogrammed cell death
IEA biological_process
GO:0045736 negative regulation of cy
clin-dependent protein se
rine/threonine kinase act
ivity
IEA biological_process
GO:0046685 response to arsenic-conta
ining substance
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048146 positive regulation of fi
broblast proliferation
IMP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050821 protein stabilization
TAS biological_process
GO:0051412 response to corticosteron
e
IEA biological_process
GO:0055093 response to hyperoxia
IEA biological_process
GO:0060574 intestinal epithelial cel
l maturation
IEA biological_process
GO:0070557 PCNA-p21 complex
IDA cellular_component
GO:0071479 cellular response to ioni
zing radiation
IMP biological_process
GO:0071493 cellular response to UV-B
ISS biological_process
GO:0071850 mitotic cell cycle arrest
IEA biological_process
GO:0090398 cellular senescence
IMP biological_process
GO:0090399 replicative senescence
IEA biological_process
GO:0090400 stress-induced premature
senescence
TAS biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
TAS biological_process
GO:1904031 positive regulation of cy
clin-dependent protein ki
nase activity
IEA biological_process
GO:2000134 negative regulation of G1
/S transition of mitotic
cell cycle
IGI biological_process
GO:2000278 regulation of DNA biosynt
hetic process
IEA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IMP biological_process
GO:0000079 regulation of cyclin-depe
ndent protein serine/thre
onine kinase activity
IEA biological_process
GO:0000079 regulation of cyclin-depe
ndent protein serine/thre
onine kinase activity
TAS biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
TAS biological_process
GO:0000086 G2/M transition of mitoti
c cell cycle
IMP biological_process
GO:0000307 cyclin-dependent protein
kinase holoenzyme complex
IEA cellular_component
GO:0000307 cyclin-dependent protein
kinase holoenzyme complex
IDA cellular_component
GO:0004860 protein kinase inhibitor
activity
IEA molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
IEA molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
IEA molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
IDA biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0007049 cell cycle
IEA biological_process
GO:0007050 cell cycle arrest
IEA biological_process
GO:0007050 cell cycle arrest
IEA biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007265 Ras protein signal transd
uction
IEP biological_process
GO:0007346 regulation of mitotic cel
l cycle
IEA biological_process
GO:0007346 regulation of mitotic cel
l cycle
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0009411 response to UV
IEA biological_process
GO:0009636 response to toxic substan
ce
IEA biological_process
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0010165 response to X-ray
IEA biological_process
GO:0010243 response to organonitroge
n compound
IEA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0010942 positive regulation of ce
ll death
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0019912 cyclin-dependent protein
kinase activating kinase
activity
IDA molecular_function
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030332 cyclin binding
IEA molecular_function
GO:0030890 positive regulation of B
cell proliferation
IEA biological_process
GO:0031100 animal organ regeneration
IEA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031668 cellular response to extr
acellular stimulus
IMP biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0033158 regulation of protein imp
ort into nucleus, translo
cation
IEA biological_process
GO:0034198 cellular response to amin
o acid starvation
IEA biological_process
GO:0034198 cellular response to amin
o acid starvation
IMP biological_process
GO:0034605 cellular response to heat
IEA biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042771 intrinsic apoptotic signa
ling pathway in response
to DNA damage by p53 clas
s mediator
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043068 positive regulation of pr
ogrammed cell death
IEA biological_process
GO:0045736 negative regulation of cy
clin-dependent protein se
rine/threonine kinase act
ivity
IEA biological_process
GO:0046685 response to arsenic-conta
ining substance
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048146 positive regulation of fi
broblast proliferation
IMP biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050821 protein stabilization
TAS biological_process
GO:0051384 response to glucocorticoi
d
IEA biological_process
GO:0051412 response to corticosteron
e
IEA biological_process
GO:0051726 regulation of cell cycle
IEA biological_process
GO:0055093 response to hyperoxia
IEA biological_process
GO:0060574 intestinal epithelial cel
l maturation
IEA biological_process
GO:0070557 PCNA-p21 complex
IDA cellular_component
GO:0071479 cellular response to ioni
zing radiation
IEA biological_process
GO:0071479 cellular response to ioni
zing radiation
IMP biological_process
GO:0071493 cellular response to UV-B
IEA biological_process
GO:0071493 cellular response to UV-B
ISS biological_process
GO:0071850 mitotic cell cycle arrest
IEA biological_process
GO:0072331 signal transduction by p5
3 class mediator
IEA biological_process
GO:0090398 cellular senescence
IMP biological_process
GO:0090399 replicative senescence
IEA biological_process
GO:0090400 stress-induced premature
senescence
TAS biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
TAS biological_process
GO:1904031 positive regulation of cy
clin-dependent protein ki
nase activity
IEA biological_process
GO:2000134 negative regulation of G1
/S transition of mitotic
cell cycle
IGI biological_process
GO:2000278 regulation of DNA biosynt
hetic process
IEA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IEA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IMP biological_process
GO:0000079 regulation of cyclin-depe
ndent protein serine/thre
onine kinase activity
TAS biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
IDA biological_process
GO:0000082 G1/S transition of mitoti
c cell cycle
TAS biological_process
GO:0000086 G2/M transition of mitoti
c cell cycle
IMP biological_process
GO:0000307 cyclin-dependent protein
kinase holoenzyme complex
IDA cellular_component
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0004861 cyclin-dependent protein
serine/threonine kinase i
nhibitor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
IDA biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0007050 cell cycle arrest
IDA biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007050 cell cycle arrest
IMP biological_process
GO:0007265 Ras protein signal transd
uction
IEP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IDA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0008285 negative regulation of ce
ll proliferation
IMP biological_process
GO:0019912 cyclin-dependent protein
kinase activating kinase
activity
IDA molecular_function
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031668 cellular response to extr
acellular stimulus
IMP biological_process
GO:0034198 cellular response to amin
o acid starvation
IMP biological_process
GO:0042326 negative regulation of ph
osphorylation
IDA biological_process
GO:0048146 positive regulation of fi
broblast proliferation
IMP biological_process
GO:0050821 protein stabilization
TAS biological_process
GO:0070557 PCNA-p21 complex
IDA cellular_component
GO:0071479 cellular response to ioni
zing radiation
IMP biological_process
GO:0071493 cellular response to UV-B
ISS biological_process
GO:0090398 cellular senescence
IMP biological_process
GO:0090400 stress-induced premature
senescence
TAS biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
TAS biological_process
GO:2000134 negative regulation of G1
/S transition of mitotic
cell cycle
IGI biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IMP biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa05206  MicroRNAs in cancer
hsa05166  HTLV-I infection
hsa05205  Proteoglycans in cancer
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05169  Epstein-Barr virus infection
hsa05161  Hepatitis B
hsa05224  Breast cancer
hsa04630  Jak-STAT signaling pathway
hsa04068  FoxO signaling pathway
hsa05202  Transcriptional misregulation in cancer
hsa05203  Viral carcinogenesis
hsa05215  Prostate cancer
hsa01522  Endocrine resistance
hsa04066  HIF-1 signaling pathway
hsa05160  Hepatitis C
hsa04110  Cell cycle
hsa05218  Melanoma
hsa05220  Chronic myeloid leukemia
hsa01524  Platinum drug resistance
hsa04012  ErbB signaling pathway
hsa05219  Bladder cancer
hsa04115  p53 signaling pathway
hsa05214  Glioma
hsa04921  Oxytocin signaling pathway

Diseases

Associated diseases References
Atherosclerosis PMID: 17351341
Cancer PMID: 18361427
Cervical cancer KEGG: H00030
Endometriosis PMID: 23899551
Endometriosis PMID: 11436200
Glaucoma PMID: 14738489
Lupus erythematosus PMID: 16837471
Endometriosis INFBASE23899551
Systemic lupus erythematosus PMID: 19262578

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23899551 Endometrio
sis

41 (15 endometr
ium from patien
ts, 26 endometr
ium from contro
ls)
HOXA10
ESR1
CDH1
CDKN1A
HRH4
HIST2H3C
Show abstract