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Symbol RBCK1 contributors: mct/npt/pgu - updated : 27-06-2017
HGNC name RanBP-type and C3HC4-type zinc finger containing 1
HGNC id 15864
Corresponding disease
PGBM1 polyglucosan body myopathy 1 with or without immunodeficiency
Location 20p13      Physical location : 388.708 - 411.608
Synonym name
  • HBV associated factor
  • RBCC protein interacting with PKC 1
  • chromosome 20 open reading frame 18
  • likely ortholog of mouse ubiquitin conjugating enzyme 7 interacting protein 3
  • RING-in between RING fingers
  • haem-oxidized IRP2 ubiquitin ligase-1 (HOIL-1)
  • hepatitis B virus X-associated protein 4
  • Synonym symbol(s) XAP4, RNF54, UBCE7IP3, C20orf18, HOIL1, RBCK2, ZRANB4, RING-IBR, HOIL-1l
    TYPE functioning gene
    STRUCTURE 24.09 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing initiation site codon stop 2633 52.9 468 highly in brain, placenta, pancreas, moderately in heart, skeletal muscle, lowly in lung, liver, kidney 2015 26525107
  • lacking exon 2 which contains a translation start codon used by variant 2
  • using an in-frame start codon in exon 1
  • E3 activity of RBCK1 is controlled by two distinct manners, interaction with RBCK2 and phosphorylation by PKCā
  • having a distinct N-terminus compared to that of isoform 2
  • 12 splicing initiation site codon stop 2778 56.4 500 bone marrow, spleen, thymus, brain, heart, skeletal muscle, liver, pancreas, prostate, kidney, lung 2015 26525107
  • containing exon 2 with a translation start codon used by variant 2
  • no transcriptional activity and instead it represses the transcriptional activity of RBCK1
  • present usually in the cytoplasm containing two Leu-rich regions that presumably serve as a nuclear export signal (NES)
  • lacking the C-terminal half including the RING-IBR domain
  • 11 - 3802 - 340 - 2015 26525107
    10 - 3657 - 340 - 2015 26525107
    3 - 1274 - 105 - 2015 26525107
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     pancreas exocrine    
    Lymphoid/Immunelymph node    
    Nervousnervecranial nerve  highly
    Reproductivefemale systemuteruscervix highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
  • an N-terminal region containing Leu-142 and Leu-145 serving as the nuclear export
  • an ubiquitin like domain, required for the binding to RNF31 to assemble LUBAC, and interacting with the Phe4-centered patch of the proximal UBC
  • two coiled-coil regions
  • a RING finger
  • a B-box, and a B-box-like motif
  • a Npl4 zinc finger (NZF) domain specifically binds linear polyubiquitin chains and determined the crystal structure of the RBCK1 NZF domain in complex with linear diubiquitin
  • a C-terminal one containing the RING-IBR domain, serving as localization signals
  • conjugated PhosphoP , MetalloP
    mono polymer homomer , dimer
    interspecies homolog to rattus Pkcbpb15
    ortholog to murine AL033326
  • RING finger proteins family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text shuttle between the nucleus and cytoplasm
    basic FUNCTION
  • acting as a E3 ubiquitin protein ligase
  • involved in transcriptional machinery in the nuclear bodies, and its transcriptional activity is regulated by nucleocytoplasmic shuttling
  • function as a transcriptional activator whose nuclear translocation is prevented by interaction with the cytoplasmic RBCK2
  • possessed a transcriptional activity, shuttling between the cytoplasm and nucleus, has also been found to exhibit a significant ubiquinating activity, which is inhibited by interaction with its splice variant RBCK2 or phosphorylation by PKC beta
  • is not required for iron-dependent degradation of IREB2 in most cell types
  • function as a transcriptional activator whose nuclear translocation is prevented by interaction with the cytoplasmic RBCK2
  • regulates cell cycle progression and proliferation of ERalpha-positive breast cancer cells by supporting transcription of ERalpha and cyclin B1
  • may be unique in its mechanism of interaction with linear chains
  • is likely important for the ubiquitination of NR1I2 and may play a role in its proteasomal degradation
  • CELLULAR PROCESS nucleotide, transcription, regulation
    protein, ubiquitin dependent proteolysis
    a component
    small molecule metal binding,
  • Zn2+
  • protein
  • binding to PRKCB1, PRKCZ, UBE2L3, X protein of hepatite B virus, IRP2
  • interact with nuclear body proteins, CREB-binding protein (CBP), and promyelocytic leukemia protein (PML)
  • binds to a unique 73-AAs domain in IREB2 in an iron-dependent manner to regulate IREB2 polyubiquitylation and degradation
  • protein kinase C (PKC) beta- and zeta-interacting protein
  • with SHARPIN are novel interaction partners of EYA1, and are coexpressed with EYA1 in several organs during craniofacial embryogenesis
  • SHARPIN activates NFKB1 signaling by forming a linear ubiquitin chain assembly complex with RNF31 (HOIP) and RBCK1 (HOIL1)
  • specific interaction between the RBCK1L NZF domain and linear chains is important for NFKB1 activation
  • ESR1 regulation of its own mRNA expression is facilitated by RBCK1 recruitment, suggesting an ESR1 coactivator function of RBCK1
  • RBCK1 ubiquitinates NR1I2, and this may target NR1I2 for degradation by the ubiquitin-proteasome pathway
  • co operates with the E3 ubiquitin ligase RNF31 to modify specific NFKB1 signaling proteins with linear M1-linked polyubiquitin chains
  • MALT1-mediated RBCK1 cleavage provides a gain-of-function mechanism that is involved in the negative feedback regulation of NFKB1 signaling
  • is a negative regulator of lymphocyte activation cleaved by MALT1
  • HOXA1 binds RBCK1 and TRAF2 and modulates the TNF/NFKB1 pathway in a transcription-independent manner
  • cell & other
    corresponding disease(s) PGBM1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    mediates the development of myocyte hypertrophy, and promotes cardiac myocyte hypertrophy
    silencing of RBCK1 impairs lung tumor growth
    Variant & Polymorphism
    Candidate gene
    Therapy target
    cardiovascularaquiredheart failure
    PRKCB1-RBCK1 interaction would serve as a potential therapeutic target to treat pathological cardiac hypertrophy
    is likely an attractive target for cancer therapy
  • Hoil-1-deficient mice exhibit amylopectin-like deposits in the myocardium, pathogen-specific immunodeficiency, but minimal signs of hyper-inflammation