RCBTB1

Protein identityUniProt · HPA

UniProt accession

Q8NDN9

Gene

RCBTB1

Ensembl

ENSG00000136144

Chromosome

13

Canonical length

531 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

531 residues, UniProt reviewed canonical sequence.

>Q8NDN9|RCBTB1
     1  MVDVGKWPIF TLLSPQEIAS IRKACVFGTS ASEALYVTDN DEVFVFGLNY SNCLGTGDNQ
    61  STLVPKKLEG LCGKKIKSLS YGSGPHVLLS TEDGVVYAWG HNGYSQLGNG TTNQGIAPVQ
   121  VCTNLLIKQV VEVACGSHHS MALAADGEVF AWGYNNCGQV GSGSTANQPT PRKVTNCLHI
   181  KRVVGIACGQ TSSMAVLDNG EVYGWGYNGN GQLGLGNNGN QLTPVRVAAL HSVCVNQIVC
   241  GYAHTLALTD EGLLYAWGAN TYGQLGTGNK NNLLSPAHIM VEKERVVEIA ACHSAHTSAA
   301  KTQGGHVYMW GQCRGQSVIL PHLTHFSCTD DVFACFATPA VSWRLLSVEH EDFLTVAESL
   361  KKEFDSPETA DLKFRIDGKY IHVHKAVLKI RCEHFRSMFQ SYWNEDMKEV IEIDQFSYPV
   421  YRAFLQYLYT DTVDLPPEDA IGLLDLATSY CENRLKKLCQ HIIKRGITVE NAFSLFSAAV
   481  RYDAEDLEEF CFKFCINHLT EVTQTAAFWQ MDGPLLKEFI AKASKCGAFK N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RCBTB1 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)

0.23

Highest tissue expression

46 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RCBTB1.

Disease | AllUniProt

Conditions RCBTB1 is implicated in, by any mechanism.

• Retinal dystrophy with or without extraocular anomalies (RDEOA) MIM:617175

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 448 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• RCBTB1-related retinopathy
• Retinitis pigmentosa
• Coats disease
• Retinal dystrophy
• Familial exudative vitreoretinopathy

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)

0.79

gnomAD pLI

0

gnomAD missense Z

1.03

DepMap mean gene effect

0.05

DepMap dependency class

none

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

• chromatin organization

Cellular components

• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• BTB/POZ domain
• Regulator of chromosome condensation, RCC1
• Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
• SKP1/BTB/POZ domain superfamily
• Diverse Signaling and Regulatory Domain-Containing Protein
• RCC1-like domain
• BTB/POZ domain
• RCC1-like domain
• RCC1 and BTB domain-containing protein 1, BTB/POZ domain

KeywordsUniProt

• Cell cycle
• Chromatin regulator
• Nucleus
• Repeat
• Transcription
• Transcription regulation