Seroatlas · Human Serome Atlas

RBCK1

RanBP-type and C3HC4-type zinc finger-containing protein 1

Also known as: C20orf18, HOIL1, HOIL1_HUMAN, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4

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

Protein identityUniProt · HPA

UniProt accession
Q9BYM8
Gene
RBCK1
Ensembl
ENSG00000125826
Chromosome
20
Canonical length
510 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

Enables several functions, including identical protein binding activity; transcription coactivator activity; and ubiquitin binding activity. Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; protein linear polyubiquitination; and regulation of DNA-binding transcription factor activity. Part of LUBAC complex. Implicated in glycogen storage disease. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

510 residues, UniProt reviewed canonical sequence.

>Q9BYM8|RBCK1
     1  MDEKTKKAEE MALSLTRAVA GGDEQVAMKC AIWLAEQRVP LSVQLKPEVS PTQDIRLWVS
    61  VEDAQMHTVT IWLTVRPDMT VASLKDMVFL DYGFPPVLQQ WVIGQRLARD QETLHSHGVR
   121  QNGDSAYLYL LSARNTSLNP QELQRERQLR MLEDLGFKDL TLQPRGPLEP GPPKPGVPQE
   181  PGRGQPDAVP EPPPVGWQCP GCTFINKPTR PGCEMCCRAR PEAYQVPASY QPDEEERARL
   241  AGEEEALRQY QQRKQQQQEG NYLQHVQLDQ RSLVLNTEPA ECPVCYSVLA PGEAVVLREC
   301  LHTFCRECLQ GTIRNSQEAE VSCPFIDNTY SCSGKLLERE IKALLTPEDY QRFLDLGISI
   361  AENRSAFSYH CKTPDCKGWC FFEDDVNEFT CPVCFHVNCL LCKAIHEQMN CKEYQEDLAL
   421  RAQNDVAARQ TTEMLKVMLQ QGEAMRCPQC QIVVQKKDGC DWIRCTVCHT EICWVTKGPR
   481  WGPGGPGDTS GGCRCRVNGI PCHPSCQNCH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBCK1 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)
0.39
Highest tissue expression
84 nTPM

Expression across tissuesHPA

Tissue

  • liver: 84 nTPM
  • adrenal gland: 45 nTPM
  • spleen: 44 nTPM
  • small intestine: 42 nTPM
  • thymus: 41 nTPM
  • esophagus: 40 nTPM

Single-cell type

  • late spermatids: 286 nCPM
  • esophageal apical cells: 223 nCPM
  • enterocytes: 179 nCPM
  • hepatocytes: 149 nCPM
  • esophageal suprabasal cells: 139 nCPM
  • extravillous trophoblasts: 136 nCPM

Immune cell

  • neutrophil: 183 nTPM
  • eosinophil: 125 nTPM
  • non-classical monocyte: 116 nTPM
  • plasmacytoid DC: 99 nTPM
  • T-reg: 89 nTPM
  • intermediate monocyte: 87 nTPM

Brain region

  • medulla oblongata: 42 nTPM
  • cerebellum: 36 nTPM
  • thalamus: 35 nTPM
  • cerebral cortex: 33 nTPM
  • white matter: 33 nTPM
  • basal ganglia: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBCK1.

Disease | AllUniProt

Conditions RBCK1 is implicated in, by any mechanism.

  • Polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) MIM:615895

Disease | GeneticClinVar

49 pathogenic / likely-pathogenic of 574 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Polyglucosan body myopathy type 1
  • Polyglucosan body myopathy 1 without immunodeficiency
  • Polyglucosan body myopathy 1 with immunodeficiency
  • See cases
  • Inborn genetic diseases

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)
0.45
gnomAD pLI
0.13
gnomAD missense Z
2
DepMap mean gene effect
0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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 RBCK1 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 RBCK1 as an antibody target. Whether an autoantibody or antibody against RBCK1 could matter depends on whether native RBCK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBCK1 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 RBCK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RBCK1. 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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