Reactome | UniProt:Q08999 RBL2

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UniProt:Q08999 RBL2 Show undefined attributes

chain	chain:1-1139
checksum	D129032FB1F383D4
comment	FUNCTION Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor.SUBUNIT Interacts with AATF. Interacts with KMT5B, KMT5C and USP4 (By similarity). Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2. Interacts with RINT1. Interacts with PML (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5). Interacts with RBBP9 (By similarity). Interacts with CD53 (By similarity).SUBUNIT (Microbial infection) Interacts with JC virus small t antigen.INTERACTION G0-restricted expression.PTM During G0 and early G1 phase of the cell cycle, phosphorylated on Ser-639 and on 5 sites within the domain B. Phosphorylation on Ser-672 in G1 leads to its ubiquitin-dependent proteolysis.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the retinoblastoma protein (RB) family.
crossReference	[DatabaseIdentifier:11518208] ENSEMBL:ENSG00000103479 [DatabaseIdentifier:12464960] RefSeq:NP_005602.3 [DatabaseIdentifier:12464959] RefSeq:NP_001310537.1 [DatabaseIdentifier:12287878] Pharos - Targets:Q08999 [DatabaseIdentifier:12268886] PRO:Q08999 [DatabaseIdentifier:12186541] PDB:4XI9 [DatabaseIdentifier:12186551] PDB:5C1D [DatabaseIdentifier:12127649] OpenTargets:ENSG00000103479 [DatabaseIdentifier:11636038] ENSEMBL:ENSP00000262133 [DatabaseIdentifier:11758737] ENSEMBL:ENST00000262133 [DatabaseIdentifier:11790032] GeneCards:RBL2 [DatabaseIdentifier:11805802] GlyGen:Q08999 [DatabaseIdentifier:11843051] HPA:ENSG00000103479-RBL2
databaseName	UniProt
dbId	62850
description	recommendedName: Retinoblastoma-like protein 2 alternativeName: 130 kDa retinoblastoma-associated protein shortName: p130 alternativeName: Retinoblastoma-related protein 2 shortName: RBR-2 alternativeName: pRb2
displayName	UniProt:Q08999 RBL2
geneName	RBL2 RB2
identifier	Q08999
isSequenceChanged	false
keyword	3D-structure Alternative splicing Cell cycle Chromatin regulator Disease variant DNA-binding Glycoprotein Host-virus interaction Intellectual disability Nucleus Phosphoprotein Proteomics identification Reference proteome Repressor Transcription Transcription regulation Tumor suppressor
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	RBL2
otherIdentifier	11718165_a_at 11718166_a_at 11747866_a_at 11748255_a_at 16818980 1986_at 212331_PM_at 212331_at 212332_PM_at 212332_at 32597_at 3661066 3661067 3661070 3661071 3661072 3661073 3661075 3661076 3661077 3661078 3661079 3661082 3661083 3661084 3661085 3661086 3661087 3661088 3661089 3661090 3661091 3661092 3661093 3661094 3661096 3661097 3661098 3661099 3661100 3661101 3661102 3661107 3661108 3661109 3661110 3661111 5934 79041_at 7995631 A_14_P123504 A_14_P131886 A_23_P26413 A_24_P416159 GE60009 GO:0000785 GO:0000977 GO:0003677 GO:0005515 GO:0005634 GO:0005654 GO:0005667 GO:0005694 GO:0005730 GO:0005829 GO:0006325 GO:0006355 GO:0006357 GO:0010629 GO:0030154 GO:0043550 GO:0051726 GO:0070062 GO:1990841 GO:2000134 HMNXSV003049133 Hs.79362.0.S1_3p_at Hs.79362.0.S3_3p_at ILMN_1756999 PH_hs_0023465 TC16000448.hg X76061_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-389102] RBL2 [nucleoplasm] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1226084] p-T401,S672,S1035-RBL2 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12112504] OMIM:180203 RBL2 [ReferenceDNASequence:12766547] UCSC:Q08999 RBL2 [ReferenceDNASequence:ensembl:ENSG00000103479] ENSEMBL:ENSG00000103479 RBL2 [ReferenceDNASequence:11382081] BioGPS Gene:5934 RBL2 [ReferenceDNASequence:11403609] COSMIC - genes:RBL2 RBL2 [ReferenceDNASequence:11417127] CTD Gene:5934 RBL2 [ReferenceDNASequence:11441233] dbSNP Gene:5934 RBL2 [ReferenceDNASequence:11821687] HGNC:9894 RBL2 [ReferenceDNASequence:11918901] KEGG:hsa:5934 RBL2 [ReferenceDNASequence:12011870] Monarch:5934 RBL2 [ReferenceDNASequence:12095963] NCBI Gene:5934 RBL2
referenceTranscript	[ReferenceRNASequence:12646437] RefSeq:NM_001323608.2 RBL2 [ReferenceRNASequence:12646436] RefSeq:NM_005611.3 RBL2
schemaClass	ReferenceGeneProduct
secondaryIdentifier	RBL2_HUMAN B7Z913 Q15073 Q16084 Q8NE70 Q92812
sequenceLength	1139
species	[Species:48887] Homo sapiens
stId	uniprot:Q08999
url	http://purl.uniprot.org/uniprot/Q08999

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-389102] RBL2 [nucleoplasm] [EntityWithAccessionedSequence:R-HSA-1226084] p-T401,S672,S1035-RBL2 [nucleoplasm]
(referenceSequence)	[ModifiedResidue:1226080] O-phospho-L-serine at 672 [ModifiedResidue:1226079] O-phospho-L-serine at 1035 [ModifiedResidue:1226077] O-phospho-L-threonine at 401
(interactor)	[UndirectedInteraction:11131875] UniProt:Q14188 <-> UniProt:Q08999 (IntAct) [UndirectedInteraction:11143607] UniProt:P24610 <-> UniProt:Q08999 (IntAct) [UndirectedInteraction:11149929] UniProt:Q14186 <-> UniProt:Q08999 (IntAct) [UndirectedInteraction:11159117] UniProt:P11802 <-> UniProt:Q08999 (IntAct) [UndirectedInteraction:11171333] UniProt:P20248 <-> UniProt:Q08999 (IntAct) [UndirectedInteraction:11174815] UniProt:P30281 <-> UniProt:Q08999 (IntAct) [UndirectedInteraction:11179373] UniProt:Q08999 <-> UniProt:P24941 (IntAct) [UndirectedInteraction:11179375] UniProt:Q08999 <-> UniProt:Q96GY3 (IntAct) [UndirectedInteraction:11179377] UniProt:Q08999 <-> UniProt:Q16254 (IntAct) [UndirectedInteraction:11179379] UniProt:Q08999 <-> UniProt:Q5TKA1 (IntAct) [UndirectedInteraction:11179381] UniProt:Q08999 <-> UniProt:Q09028 (IntAct) [UndirectedInteraction:11179383] UniProt:Q08999 <-> UniProt:P03129 (IntAct) [UndirectedInteraction:11179385] UniProt:Q08999 <-> UniProt:Q6MZP7 (IntAct) [UndirectedInteraction:11179389] UniProt:Q08999 <-> UniProt:Q61412 (IntAct) [UndirectedInteraction:11179391] UniProt:Q08999 <-> UniProt:Q52LA3 (IntAct) [UndirectedInteraction:11179395] UniProt:Q08999 <-> UniProt:I6L8A6 (IntAct) [UndirectedInteraction:11179399] UniProt:Q08999 <-> UniProt:Q99708-2 (IntAct) [UndirectedInteraction:11179401] UniProt:Q08999 <-> UniProt:P67775 (IntAct) [UndirectedInteraction:11179403] UniProt:Q08999 <-> UniProt:Q9Y463 (IntAct) [UndirectedInteraction:11179405] UniProt:Q08999 <-> UniProt:P30279 (IntAct) [UndirectedInteraction:11179407] UniProt:Q08999 <-> UniProt:P13631 (IntAct) [UndirectedInteraction:11179409] UniProt:Q08999 <-> UniProt:P03255 (IntAct) [UndirectedInteraction:11179411] UniProt:Q08999 <-> UniProt:Q13574-2 (IntAct) [UndirectedInteraction:11179413] UniProt:Q08999 <-> UniProt:Q923E4 (IntAct) [UndirectedInteraction:11179415] UniProt:Q08999 <-> UniProt:Q99708 (IntAct) [UndirectedInteraction:11179417] UniProt:Q08999 <-> UniProt:Q15329 (IntAct) [UndirectedInteraction:11179419] UniProt:Q08999 <-> UniProt:O96020 (IntAct)

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