Seroatlas · Human Serome Atlas

RBBP8

DNA endonuclease RBBP8

Also known as: COM1, CtIP, CTIP_HUMAN, RIM, SCKL2

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

Protein identityUniProt · HPA

UniProt accession: Q99708
Gene: RBBP8
Ensembl: ENSG00000101773
Chromosome: 18
Canonical length: 897 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm
Quaternary structure: Homotetramer

OverviewNCBI Gene

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

897 residues, UniProt reviewed canonical sequence.

>Q99708|RBBP8
     1  MNISGSSCGS PNSADTSSDF KDLWTKLKEC HDREVQGLQV KVTKLKQERI LDAQRLEEFF
    61  TKNQQLREQQ KVLHETIKVL EDRLRAGLCD RCAVTEEHMR KKQQEFENIR QQNLKLITEL
   121  MNERNTLQEE NKKLSEQLQQ KIENDQQHQA AELECEEDVI PDSPITAFSF SGVNRLRRKE
   181  NPHVRYIEQT HTKLEHSVCA NEMRKVSKSS THPQHNPNEN EILVADTYDQ SQSPMAKAHG
   241  TSSYTPDKSS FNLATVVAET LGLGVQEESE TQGPMSPLGD ELYHCLEGNH KKQPFEESTR
   301  NTEDSLRFSD STSKTPPQEE LPTRVSSPVF GATSSIKSGL DLNTSLSPSL LQPGKKKHLK
   361  TLPFSNTCIS RLEKTRSKSE DSALFTHHSL GSEVNKIIIQ SSNKQILINK NISESLGEQN
   421  RTEYGKDSNT DKHLEPLKSL GGRTSKRKKT EEESEHEVSC PQASFDKENA FPFPMDNQFS
   481  MNGDCVMDKP LDLSDRFSAI QRQEKSQGSE TSKNKFRQVT LYEALKTIPK GFSSSRKASD
   541  GNCTLPKDSP GEPCSQECII LQPLNKCSPD NKPSLQIKEE NAVFKIPLRP RESLETENVL
   601  DDIKSAGSHE PIKIQTRSDH GGCELASVLQ LNPCRTGKIK SLQNNQDVSF ENIQWSIDPG
   661  ADLSQYKMDV TVIDTKDGSQ SKLGGETVDM DCTLVSETVL LKMKKQEQKG EKSSNEERKM
   721  NDSLEDMFDR TTHEEYESCL ADSFSQAADE EEELSTATKK LHTHGDKQDK VKQKAFVEPY
   781  FKGDERETSL QNFPHIEVVR KKEERRKLLG HTCKECEIYY ADMPAEEREK KLASCSRHRF
   841  RYIPPNTPEN FWEVGFPSTQ TCMERGYIKE DLDPCPRPKR RQPYNAIFSP KGKEQKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBBP8 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): 0.66
Highest tissue expression: 61 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 61 nTPM
kidney: 40 nTPM
thymus: 30 nTPM
breast: 28 nTPM
skin: 27 nTPM
testis: 27 nTPM

Single-cell type

choroid plexus epithelial cells: 301 nCPM
breast myoepithelial cells: 288 nCPM
renal connecting tubule cells: 266 nCPM
mast cells: 243 nCPM
distal convoluted tubule cells: 228 nCPM
epididymal efferent duct ciliated cells: 215 nCPM

Immune cell

non-classical monocyte: 37 nTPM
intermediate monocyte: 24 nTPM
basophil: 17 nTPM
myeloid DC: 8.2 nTPM
plasmacytoid DC: 8.1 nTPM
NK-cell: 7.9 nTPM

Brain region

choroid plexus: 84 nTPM
hypothalamus: 15 nTPM
cerebellum: 15 nTPM
thalamus: 13 nTPM
cerebral cortex: 12 nTPM
hippocampal formation: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBBP8.

Disease | AllUniProt

Conditions RBBP8 is implicated in, by any mechanism.

Seckel syndrome 2 (SCKL2) MIM:606744
Jawad syndrome (JWDS) MIM:251255

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 457 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Jawad syndrome
Seckel syndrome 2
Inborn genetic diseases
RBBP8-related disorder

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): 0.75
gnomAD pLI: 0
gnomAD missense Z: -0.02
DepMap mean gene effect: -0.92
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

DNA endonuclease Ctp1, N-terminal
DNA endonuclease RBBP8-like
Tumour-suppressor protein CtIP N-terminal domain
DNA endonuclease activator Ctp1, C-terminal
DNA endonuclease activator SAE2/CtIP C-terminus

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RBBP8 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 RBBP8 as an antibody target. Whether an autoantibody or antibody against RBBP8 could matter depends on whether native RBBP8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBBP8 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 RBBP8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...