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Gene id 5925
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

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, retin,
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, hypophospho
OMIM 614041

Protein Summary
Protein general information P06400  

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

Length: 928  Mass: 106,159

Sequence MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAW
LTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSR
LLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDY
FIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFM
NSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPV
RTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGV
RLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKA
FDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNH
TAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPE
LEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYD
SIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKM
TPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQK
LAEMTSTRTRMQKQKMNDSMDTSNKEEK
Structural information
Interpro:  IPR013763  IPR036915  IPR033057  IPR002720  IPR002719  
IPR015030  IPR028309  IPR024599  
CDD:   cd00043

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:  
STRING:   ENSP00000267163
Other Databases GeneCards:  RB1  Malacards:  RB1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo 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

Expand All | Collapse All

Pathway idPathway name
hsa04110Cell cycle
hsa04218Cellular senescence
hsa05200Pathways in cancer
hsa05203Viral carcinogenesis
hsa05212Pancreatic cancer
hsa05225Hepatocellular carcinoma
hsa05226Gastric cancer
hsa05214Glioma
hsa05220Chronic myeloid leukemia
hsa05218Melanoma
hsa05219Bladder cancer
hsa05215Prostate cancer
hsa05224Breast cancer
hsa05222Small cell lung cancer
hsa05223Non-small cell lung cancer
hsa04934Cushing syndrome
hsa05166Human T-cell leukemia virus 1 infection
hsa05161Hepatitis B
hsa05160Hepatitis C
hsa05163Human cytomegalovirus infection
hsa05167Kaposi sarcoma-associated herpesvirus infection
hsa05169Epstein-Barr virus infection
hsa05165Human papillomavirus infection
hsa01522Endocrine resistance

Diseases

Expand All | Collapse All
Associated diseases References
Cancer (colorectal) GAD: 15523694
Cancer (endometrial) GAD: 8105795
Cancer (esophageal) GAD: 11832063
Cancer (glioma) GAD: 9210953
Cancer (Hepatocellular) GAD: 19817957
Cancer (lung) GAD: 19789190
Cancer (lymphoma) GAD: 19594747
Cancer (osteosarcoma) GAD: 8217129
Cancer (ovarian) GAD: 17047088
Cancer (pancreatic) GAD: 19351817
Cancer (bladder) KEGG: H00022
Cancer GAD: 17047088
Cancer (retinal) KEGG: 15763650
Cancer (Squamous cell) GAD: 20226061
Chronic myeloid leukemia KEGG: H00004
Cancer (breast) GAD: 7615356
Polycystic ovary syndrome (PCOS) INFBASE: 25603724
Endometriosis INFBASE: 16616093
Azoospermia MIK: 25762640
Globozoospermia MIK: 25762640
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Azoospermia, Globozoospermia MIK: 25762640
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25762640 Azoospermi
a, Globozo
ospermia

Male infertility GDAP1L1
GNAS
KCNK9
LIN28B
RB1
RTL1
SLC22A18
ZDBF2
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract