Seroatlas · Human Serome Atlas

RB1

Retinoblastoma-associated protein

Also known as: OSRC, PPP1R130, RB, RB_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P06400
Gene
RB1
Ensembl
ENSG00000139687
Chromosome
13
Canonical length
928 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

928 residues, UniProt reviewed canonical sequence.

>P06400|RB1
     1  MPPKTPRKTA ATAAAAAAEP PAPPPPPPPE EDPEQDSGPE DLPLVRLEFE ETEEPDFTAL
    61  CQKLKIPDHV RERAWLTWEK VSSVDGVLGG YIQKKKELWG ICIFIAAVDL DEMSFTFTEL
   121  QKNIEISVHK FFNLLKEIDT STKVDNAMSR LLKKYDVLFA LFSKLERTCE LIYLTQPSSS
   181  ISTEINSALV LKVSWITFLL AKGEVLQMED DLVISFQLML CVLDYFIKLS PPMLLKEPYK
   241  TAVIPINGSP RTPRRGQNRS ARIAKQLEND TRIIEVLCKE HECNIDEVKN VYFKNFIPFM
   301  NSLGLVTSNG LPEVENLSKR YEEIYLKNKD LDARLFLDHD KTLQTDSIDS FETQRTPRKS
   361  NLDEEVNVIP PHTPVRTVMN TIQQLMMILN SASDQPSENL ISYFNNCTVN PKESILKRVK
   421  DIGYIFKEKF AKAVGQGCVE IGSQRYKLGV RLYYRVMESM LKSEEERLSI QNFSKLLNDN
   481  IFHMSLLACA LEVVMATYSR STSQNLDSGT DLSFPWILNV LNLKAFDFYK VIESFIKAEG
   541  NLTREMIKHL ERCEHRIMES LAWLSDSPLF DLIKQSKDRE GPTDHLESAC PLNLPLQNNH
   601  TAADMYLSPV RSPKKKGSTT RVNSTANAET QATSAFQTQK PLKSTSLSLF YKKVYRLAYL
   661  RLNTLCERLL SEHPELEHII WTLFQHTLQN EYELMRDRHL DQIMMCSMYG ICKVKNIDLK
   721  FKIIVTAYKD LPHAVQETFK RVLIKEEEYD SIIVFYNSVF MQRLKTNILQ YASTRPPTLS
   781  PIPHIPRSPY KFPSSPLRIP GGNIYISPLK SPYKISEGLP TPTKMTPRSR ILVSIGESFG
   841  TSEKFQKINQ MVCNSDRVLK RSAEGSNPPK PLKKLRFDIE GSDEADGSKH LPGESKFQQK
   901  LAEMTSTRTR MQKQKMNDSM DTSNKEEK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RB1 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)
0.36
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 32 nTPM
  • lymph node: 29 nTPM
  • tonsil: 28 nTPM
  • placenta: 23 nTPM
  • spleen: 23 nTPM
  • skin: 22 nTPM

Single-cell type

  • melanocytes: 564 nCPM
  • neutrophils: 543 nCPM
  • microglia: 422 nCPM
  • b-cells: 418 nCPM
  • macrophages: 406 nCPM
  • thymocytes: 379 nCPM

Immune cell

  • memory B-cell: 30 nTPM
  • naive B-cell: 30 nTPM
  • basophil: 24 nTPM
  • non-classical monocyte: 21 nTPM
  • neutrophil: 21 nTPM
  • intermediate monocyte: 20 nTPM

Brain region

  • white matter: 35 nTPM
  • medulla oblongata: 34 nTPM
  • cerebellum: 29 nTPM
  • spinal cord: 29 nTPM
  • hypothalamus: 28 nTPM
  • choroid plexus: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RB1.

Disease | AllUniProt

Conditions RB1 is implicated in, by any mechanism.

Disease | GeneticClinVar

953 pathogenic / likely-pathogenic of 4,564 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.13
gnomAD pLI
1
gnomAD missense Z
2.67
DepMap mean gene effect
0.24
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RB1 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 RB1 as an antibody target. Whether an autoantibody or antibody against RB1 could matter depends on whether native RB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RB1 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 RB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RB1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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