RBL1
Retinoblastoma-like protein 1
Also known as: cp107, p107, PRB1, RBL1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P28749
- Gene
- RBL1
- Ensembl
- ENSG00000080839
- Chromosome
- 20
- Canonical length
- 1068 aa
- Protein class
- Cancer-related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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 phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1068 residues, UniProt reviewed canonical sequence.
>P28749|RBL1
1 MFEDKPHAEG AAVVAAAGEA LQALCQELNL DEGSAAEALD DFTAIRGNYS LEGEVTHWLA
61 CSLYVACRKS IIPTVGKGIM EGNCVSLTRI LRSAKLSLIQ FFSKMKKWMD MSNLPQEFRE
121 RIERLERNFE VSTVIFKKYE PIFLDIFQNP YEEPPKLPRS RKQRRIPCSV KDLFNFCWTL
181 FVYTKGNFRM IGDDLVNSYH LLLCCLDLIF ANAIMCPNRQ DLLNPSFKGL PSDFHTADFT
241 ASEEPPCIIA VLCELHDGLL VEAKGIKEHY FKPYISKLFD RKILKGECLL DLSSFTDNSK
301 AVNKEYEEYV LTVGDFDERI FLGADAEEEI GTPRKFTRDT PLGKLTAQAN VEYNLQQHFE
361 KKRSFAPSTP LTGRRYLREK EAVITPVASA TQSVSRLQSI VAGLKNAPSD QLINIFESCV
421 RNPVENIMKI LKGIGETFCQ HYTQSTDEQP GSHIDFAVNR LKLAEILYYK ILETVMVQET
481 RRLHGMDMSV LLEQDIFHRS LMACCLEIVL FAYSSPRTFP WIIEVLNLQP FYFYKVIEVV
541 IRSEEGLSRD MVKHLNSIEE QILESLAWSH DSALWEALQV SANKVPTCEE VIFPNNFETG
601 NGGNVQGHLP LMPMSPLMHP RVKEVRTDSG SLRRDMQPLS PISVHERYSS PTAGSAKRRL
661 FGEDPPKEML MDKIITEGTK LKIAPSSSIT AENVSILPGQ TLLTMATAPV TGTTGHKVTI
721 PLHGVANDAG EITLIPLSMN TNQESKVKSP VSLTAHSLIG ASPKQTNLTK AQEVHSTGIN
781 RPKRTGSLAL FYRKVYHLAS VRLRDLCLKL DVSNELRRKI WTCFEFTLVH CPDLMKDRHL
841 DQLLLCAFYI MAKVTKEERT FQEIMKSYRN QPQANSHVYR SVLLKSIPRE VVAYNKNIND
901 DFEMIDCDLE DATKTPDCSS GPVKEERGDL IKFYNTIYVG RVKSFALKYD LANQDHMMDA
961 PPLSPFPHIK QQPGSPRRIS QQHSIYISPH KNGSGLTPRS ALLYKFNGSP SKSLKDINNM
1021 IRQGEQRTKK RVIAIDSDAE SPAKRVCQEN DDVLLKRLQD VVSERANHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RBL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 14 nTPM
- thymus: 8.2 nTPM
- tongue: 7.4 nTPM
- lymph node: 6.8 nTPM
- skeletal muscle: 6.5 nTPM
- tonsil: 6.3 nTPM
Single-cell type
- erythrocyte progenitors: 185 nCPM
- monocyte progenitors: 169 nCPM
- myonuclei: 157 nCPM
- early primary spermatocytes: 145 nCPM
- neutrophil progenitors: 142 nCPM
- megakaryocyte progenitors: 112 nCPM
Immune cell
- T-reg: 4.5 nTPM
- naive CD4 T-cell: 3.2 nTPM
- memory CD4 T-cell: 3.1 nTPM
- plasmacytoid DC: 3.1 nTPM
- memory B-cell: 3 nTPM
- gdT-cell: 2.7 nTPM
Brain region
- cerebellum: 22 nTPM
- white matter: 11 nTPM
- basal ganglia: 9.9 nTPM
- pons: 9.4 nTPM
- medulla oblongata: 8.9 nTPM
- thalamus: 8.8 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.71
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.22
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- chromatin organization
- negative regulation of cellular senescence
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of gene expression
- negative regulation of transcription by RNA polymerase II
- regulation of lipid kinase activity
Molecular functions
- promoter-specific chromatin binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Retinoblastoma-associated protein, B-box
- Retinoblastoma-associated protein, A-box
- Cyclin-like domain
- Retinoblastoma-associated protein, C-terminal
- Retinoblastoma-associated protein, N-terminal
- Retinoblastoma protein family
- Cyclin-like superfamily
- Retinoblastoma-associated protein B domain
- Retinoblastoma-associated protein A domain
- Rb C-terminal domain
- Domain of unknown function (DUF3452)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RBL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RBL1 as an antibody target. Whether an autoantibody or antibody against RBL1 could matter depends on whether native RBL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RBL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RBL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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