• Gene id: 5933

Gene Summary

• Gene Symbol: RBL1   Gene   UCSC   Ensembl
• Aliases: CP107, PRB1, p107
• Gene name: RB transcriptional corepressor like 1
• Alternate names: retinoblastoma-like protein 1, 107 kDa retinoblastoma-associated protein, retinoblastoma-like 1,
• Gene location: 20q11.23 (37096028: 36996348)     Exons: 22     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylat
• OMIM: 116957

Protein Summary

• Protein general information: P28749  
  • Name: Retinoblastoma like protein 1 (107 kDa retinoblastoma associated protein) (p107) (pRb1)
  • Length: 1068  
  • Mass: 120847
• Sequence:

  MFEDKPHAEGAAVVAAAGEALQALCQELNLDEGSAAEALDDFTAIRGNYSLEGEVTHWLACSLYVACRKSIIPTV
  GKGIMEGNCVSLTRILRSAKLSLIQFFSKMKKWMDMSNLPQEFRERIERLERNFEVSTVIFKKYEPIFLDIFQNP
  YEEPPKLPRSRKQRRIPCSVKDLFNFCWTLFVYTKGNFRMIGDDLVNSYHLLLCCLDLIFANAIMCPNRQDLLNP
  SFKGLPSDFHTADFTASEEPPCIIAVLCELHDGLLVEAKGIKEHYFKPYISKLFDRKILKGECLLDLSSFTDNSK
  AVNKEYEEYVLTVGDFDERIFLGADAEEEIGTPRKFTRDTPLGKLTAQANVEYNLQQHFEKKRSFAPSTPLTGRR
  YLREKEAVITPVASATQSVSRLQSIVAGLKNAPSDQLINIFESCVRNPVENIMKILKGIGETFCQHYTQSTDEQP
  GSHIDFAVNRLKLAEILYYKILETVMVQETRRLHGMDMSVLLEQDIFHRSLMACCLEIVLFAYSSPRTFPWIIEV
  LNLQPFYFYKVIEVVIRSEEGLSRDMVKHLNSIEEQILESLAWSHDSALWEALQVSANKVPTCEEVIFPNNFETG
  NGGNVQGHLPLMPMSPLMHPRVKEVRTDSGSLRRDMQPLSPISVHERYSSPTAGSAKRRLFGEDPPKEMLMDKII
  TEGTKLKIAPSSSITAENVSILPGQTLLTMATAPVTGTTGHKVTIPLHGVANDAGEITLIPLSMNTNQESKVKSP
  VSLTAHSLIGASPKQTNLTKAQEVHSTGINRPKRTGSLALFYRKVYHLASVRLRDLCLKLDVSNELRRKIWTCFE
  FTLVHCPDLMKDRHLDQLLLCAFYIMAKVTKEERTFQEIMKSYRNQPQANSHVYRSVLLKSIPREVVAYNKNIND
  DFEMIDCDLEDATKTPDCSSGPVKEERGDLIKFYNTIYVGRVKSFALKYDLANQDHMMDAPPLSPFPHIKQQPGS
  PRRISQQHSIYISPHKNGSGLTPRSALLYKFNGSPSKSLKDINNMIRQGEQRTKKRVIAIDSDAESPAKRVCQEN
  DDVLLKRLQDVVSERANH

• Structural information:
  • Interpro: IPR013763  IPR036915  IPR002720  IPR002719  IPR015030   IPR028309  IPR024599  IPR028310  
  • CDD: cd00043
  • PDB: 1H28 4YOO 4YOS 4YOZ 5TUV
  • PDBsum: 1H28 4YOO 4YOS 4YOZ 5TUV
  • DIP: 148
  • STRING: ENSP00000362768
• Other Databases: GeneCards:  RBL1  Malacards:  RBL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030154	cell differentiation	IBA	biological process
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IBA	biological process
GO:0000785	chromatin	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IBA	molecular function
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0007346	regulation of mitotic cell cycle	IBA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0051302	regulation of cell division	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:2000773	negative regulation of cellular senescence	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043550	regulation of lipid kinase activity	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa05203	Viral carcinogenesis
hsa04218	Cellular senescence
hsa04110	Cell cycle
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq