Endometriosis Knowledgebase

Search Result

Gene id

5925

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

RB1 Gene UCSC Ensembl

Aliases

OSRC, PPP1R130, RB, p105-Rb, pRb, pp110

Gene name

RB transcriptional corepressor 1

Alternate names

retinoblastoma-associated protein, GOS563 exon 17 substitution mutation causes premature stop, exon 17 tumor GOS561 substitution mutation causes premature stop, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130, retinoblas,

Gene location

13q14.2 (48303746: 48481889) Exons: 28 NC_000013.11

Gene summary(Entrez)

The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]

OMIM

614041

Protein Summary

Protein general information

P06400

Name: Retinoblastoma associated protein (p105 Rb) (pRb) (Rb) (pp110)

Length: 928 Mass: 106,159

Tissue specificity: Expressed in the retina.

Sequence

MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAW
LTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSR
LLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDY
FIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFM
NSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPV
RTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGV
RLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKA
FDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNH
TAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPE
LEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYD
SIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKM
TPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQK
LAEMTSTRTRMQKQKMNDSMDTSNKEEK

Structural information

Motifs	Nuclear localization(870-876)
Interpro:	IPR013763 IPR033057 IPR002720 IPR002719 IPR015030 IPR028309 IPR024599
Pfam:	PF11934 PF01858 PF01857 PF08934
PDB:	1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL
PDBsum:	1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL
DIP:	582
MINT:	98847
STRING:	ENSP00000267163;

Other Databases

GeneCards: RB1; Malacards: RB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000075	cell cycle checkpoint	TAS	biological_process
GO:0000082	G1/S transition of mitoti c cell cycle	TAS	biological_process
GO:0000083	regulation of transcripti on involved in G1/S trans ition of mitotic cell cyc le	TAS	biological_process
GO:0000785	chromatin	TAS	cellular_component
GO:0001047	core promoter binding	IDA	molecular_function
GO:0001102	RNA polymerase II activat ing transcription factor binding	IEA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	NAS	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: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: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:0005819	spindle	IEA	cellular_component
GO:0006338	chromatin remodeling	TAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006469	negative regulation of pr otein kinase activity	IPI	biological_process
GO:0007050	cell cycle arrest	TAS	biological_process
GO:0007070	negative regulation of tr anscription from RNA poly merase II promoter during mitotic cell cycle	TAS	biological_process
GO:0007093	mitotic cell cycle checkp oint	TAS	biological_process
GO:0007265	Ras protein signal transd uction	IEP	biological_process
GO:0007346	regulation of mitotic cel l cycle	IMP	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0010629	negative regulation of ge ne expression	IMP	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0016514	SWI/SNF complex	TAS	cellular_component
GO:0016605	PML body	IDA	cellular_component
GO:0019900	kinase binding	IDA	molecular_function
GO:0030521	androgen receptor signali ng pathway	NAS	biological_process
GO:0031134	sister chromatid biorient ation	IMP	biological_process
GO:0031175	neuron projection develop ment	IEA	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0034088	maintenance of mitotic si ster chromatid cohesion	IMP	biological_process
GO:0034349	glial cell apoptotic proc ess	IEA	biological_process
GO:0035189	Rb-E2F complex	TAS	cellular_component
GO:0035914	skeletal muscle cell diff erentiation	IEA	biological_process
GO:0042551	neuron maturation	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043353	enucleate erythrocyte dif ferentiation	IEA	biological_process
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	TAS	biological_process
GO:0043550	regulation of lipid kinas e activity	IDA	biological_process
GO:0045445	myoblast differentiation	IMP	biological_process
GO:0045651	positive regulation of ma crophage differentiation	IEA	biological_process
GO:0045842	positive regulation of mi totic metaphase/anaphase transition	IMP	biological_process
GO:0045879	negative regulation of sm oothened signaling pathwa y	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	TAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048565	digestive tract developme nt	IEA	biological_process
GO:0048667	cell morphogenesis involv ed in neuron differentiat ion	IEA	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0050681	androgen receptor binding	NAS	molecular_function
GO:0051146	striated muscle cell diff erentiation	IEA	biological_process
GO:0051219	phosphoprotein binding	IPI	molecular_function
GO:0051301	cell division	IEA	biological_process
GO:0051402	neuron apoptotic process	IEA	biological_process
GO:0071459	protein localization to c hromosome, centromeric re gion	IMP	biological_process
GO:0071466	cellular response to xeno biotic stimulus	IEA	biological_process
GO:0071922	regulation of cohesin loa ding	IMP	biological_process
GO:0071930	negative regulation of tr anscription involved in G 1/S transition of mitotic cell cycle	IEA	biological_process
GO:0090230	regulation of centromere complex assembly	TAS	biological_process
GO:0097284	hepatocyte apoptotic proc ess	IEA	biological_process
GO:2000134	negative regulation of G1 /S transition of mitotic cell cycle	TAS	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:0008024	cyclin/CDK positive trans cription elongation facto r complex	IDA	cellular_component
GO:0000075	cell cycle checkpoint	TAS	biological_process
GO:0000082	G1/S transition of mitoti c cell cycle	IEA	biological_process
GO:0000082	G1/S transition of mitoti c cell cycle	TAS	biological_process
GO:0000083	regulation of transcripti on involved in G1/S trans ition of mitotic cell cyc le	TAS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000785	chromatin	TAS	cellular_component
GO:0001047	core promoter binding	IDA	molecular_function
GO:0001102	RNA polymerase II activat ing transcription factor binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	NAS	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: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: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:0005667	transcription factor comp lex	IEA	cellular_component
GO:0005819	spindle	IEA	cellular_component
GO:0006338	chromatin remodeling	TAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0006469	negative regulation of pr otein kinase activity	IPI	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0007050	cell cycle arrest	IEA	biological_process
GO:0007050	cell cycle arrest	TAS	biological_process
GO:0007070	negative regulation of tr anscription from RNA poly merase II promoter during mitotic cell cycle	TAS	biological_process
GO:0007093	mitotic cell cycle checkp oint	TAS	biological_process
GO:0007265	Ras protein signal transd uction	IEP	biological_process
GO:0007346	regulation of mitotic cel l cycle	IMP	biological_process
GO:0008134	transcription factor bind ing	IEA	molecular_function
GO:0008134	transcription factor bind ing	IEA	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IMP	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0016514	SWI/SNF complex	TAS	cellular_component
GO:0016605	PML body	IDA	cellular_component
GO:0019899	enzyme binding	IEA	molecular_function
GO:0019900	kinase binding	IDA	molecular_function
GO:0030182	neuron differentiation	IEA	biological_process
GO:0030521	androgen receptor signali ng pathway	NAS	biological_process
GO:0031134	sister chromatid biorient ation	IMP	biological_process
GO:0031175	neuron projection develop ment	IEA	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0034088	maintenance of mitotic si ster chromatid cohesion	IMP	biological_process
GO:0034349	glial cell apoptotic proc ess	IEA	biological_process
GO:0035189	Rb-E2F complex	IEA	cellular_component
GO:0035189	Rb-E2F complex	IEA	cellular_component
GO:0035189	Rb-E2F complex	TAS	cellular_component
GO:0035914	skeletal muscle cell diff erentiation	IEA	biological_process
GO:0042551	neuron maturation	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043353	enucleate erythrocyte dif ferentiation	IEA	biological_process
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	TAS	biological_process
GO:0043550	regulation of lipid kinas e activity	IDA	biological_process
GO:0045445	myoblast differentiation	IMP	biological_process
GO:0045651	positive regulation of ma crophage differentiation	IEA	biological_process
GO:0045786	negative regulation of ce ll cycle	IEA	biological_process
GO:0045842	positive regulation of mi totic metaphase/anaphase transition	IMP	biological_process
GO:0045879	negative regulation of sm oothened signaling pathwa y	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	TAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0045930	negative regulation of mi totic cell cycle	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048565	digestive tract developme nt	IEA	biological_process
GO:0048667	cell morphogenesis involv ed in neuron differentiat ion	IEA	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0050681	androgen receptor binding	NAS	molecular_function
GO:0051146	striated muscle cell diff erentiation	IEA	biological_process
GO:0051219	phosphoprotein binding	IPI	molecular_function
GO:0051301	cell division	IEA	biological_process
GO:0051402	neuron apoptotic process	IEA	biological_process
GO:0051726	regulation of cell cycle	IEA	biological_process
GO:0051726	regulation of cell cycle	IEA	biological_process
GO:0071459	protein localization to c hromosome, centromeric re gion	IMP	biological_process
GO:0071466	cellular response to xeno biotic stimulus	IEA	biological_process
GO:0071922	regulation of cohesin loa ding	IMP	biological_process
GO:0071930	negative regulation of tr anscription involved in G 1/S transition of mitotic cell cycle	IEA	biological_process
GO:0090230	regulation of centromere complex assembly	TAS	biological_process
GO:0097284	hepatocyte apoptotic proc ess	IEA	biological_process
GO:2000134	negative regulation of G1 /S transition of mitotic cell cycle	IEA	biological_process
GO:2000134	negative regulation of G1 /S transition of mitotic cell cycle	IEA	biological_process
GO:2000134	negative regulation of G1 /S transition of mitotic cell cycle	TAS	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:0008024	cyclin/CDK positive trans cription elongation facto r complex	IDA	cellular_component
GO:0000075	cell cycle checkpoint	TAS	biological_process
GO:0000082	G1/S transition of mitoti c cell cycle	TAS	biological_process
GO:0000083	regulation of transcripti on involved in G1/S trans ition of mitotic cell cyc le	TAS	biological_process
GO:0000785	chromatin	TAS	cellular_component
GO:0001047	core promoter binding	IDA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003713	transcription coactivator activity	NAS	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: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: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:0006338	chromatin remodeling	TAS	biological_process
GO:0006469	negative regulation of pr otein kinase activity	IPI	biological_process
GO:0007050	cell cycle arrest	TAS	biological_process
GO:0007070	negative regulation of tr anscription from RNA poly merase II promoter during mitotic cell cycle	TAS	biological_process
GO:0007093	mitotic cell cycle checkp oint	TAS	biological_process
GO:0007265	Ras protein signal transd uction	IEP	biological_process
GO:0007346	regulation of mitotic cel l cycle	IMP	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0010629	negative regulation of ge ne expression	IMP	biological_process
GO:0016514	SWI/SNF complex	TAS	cellular_component
GO:0016605	PML body	IDA	cellular_component
GO:0019900	kinase binding	IDA	molecular_function
GO:0030521	androgen receptor signali ng pathway	NAS	biological_process
GO:0031134	sister chromatid biorient ation	IMP	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0034088	maintenance of mitotic si ster chromatid cohesion	IMP	biological_process
GO:0035189	Rb-E2F complex	TAS	cellular_component
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	TAS	biological_process
GO:0043550	regulation of lipid kinas e activity	IDA	biological_process
GO:0045445	myoblast differentiation	IMP	biological_process
GO:0045842	positive regulation of mi totic metaphase/anaphase transition	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	TAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0050681	androgen receptor binding	NAS	molecular_function
GO:0051219	phosphoprotein binding	IPI	molecular_function
GO:0071459	protein localization to c hromosome, centromeric re gion	IMP	biological_process
GO:0071922	regulation of cohesin loa ding	IMP	biological_process
GO:0090230	regulation of centromere complex assembly	TAS	biological_process
GO:2000134	negative regulation of G1 /S transition of mitotic cell cycle	TAS	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:0008024	cyclin/CDK positive trans cription elongation facto r complex	IDA	cellular_component

KEGG pathways

hsa05200  Pathways in cancer
hsa05166  HTLV-I infection
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05169  Epstein-Barr virus infection
hsa05161  Hepatitis B
hsa05224  Breast cancer
hsa05203  Viral carcinogenesis
hsa05215  Prostate cancer
hsa01522  Endocrine resistance
hsa04110  Cell cycle
hsa05218  Melanoma
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa05222  Small cell lung cancer
hsa05219  Bladder cancer
hsa05214  Glioma
hsa05223  Non-small cell lung cancer

Diseases

Associated diseases	References
Azoospermia	PMID: 25762640
Bladder cancer	KEGG: H00022
Breast cancer	KEGG: H00031
Chronic myeloid leukemia	KEGG: H00004
Endometriosis	PMID: 16616093
Endometriotic and adenomyotic tissues	PMID: 16616093
Esophageal cancer	KEGG: H00017
Glioma	KEGG: H00042
Globozoospermia	PMID: 25762640
Hepatocellular carcinoma	KEGG: H00048
Endometriotic and adenomyotic tissues	INFBASE16616093
Endometriosis	INFBASE16616093
Osteosarcoma	KEGG: H00036
Polycystic ovary syndrome (PCOS)	PMID: 25603724
Retinoblastoma	KEGG: H01513
Small cell lung cancer	KEGG: H00013

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16616093	Endometrio sis			56 (25 women wi th endometrioma s, 31 women wit h adenomyosis)		p16 pRb cyclin D1	Show abstract