RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)

2010-03-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf18,HOIL-1,HOIL1,PBMEI,PGBM1,RBCK2,RNF54,UBCE7IP3,XAP3,XAP4,ZRANB4
FUSION GENES

Other Information

Locus ID:

NCBI: 10616
MIM: 610924
HGNC: 15864
Ensembl: ENSG00000125826

Variants:

dbSNP: 10616
ClinVar: 10616
TCGA: ENSG00000125826
COSMIC: RBCK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125826ENST00000353660Q9BYM8
ENSG00000125826ENST00000356286Q9BYM8
ENSG00000125826ENST00000382181A6PVK0
ENSG00000125826ENST00000382214G3XAG9
ENSG00000125826ENST00000400247A6PVJ5
ENSG00000125826ENST00000411647Q5JWR1
ENSG00000125826ENST00000414880H0Y4S7
ENSG00000125826ENST00000415942B4DML5
ENSG00000125826ENST00000441733A6PVJ7
ENSG00000125826ENST00000475269A6PVJ6
ENSG00000125826ENST00000640614A6PVK0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Signal TransductionREACTOMER-HSA-162582
Death Receptor SignallingREACTOMER-HSA-73887
TNF signalingREACTOMER-HSA-75893
TNFR1-induced NFkappaB signaling pathwayREACTOMER-HSA-5357956
Regulation of TNFR1 signalingREACTOMER-HSA-5357905

References

Pubmed IDYearTitleCitations
231040952012Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.127
260088992015Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.59
187114482008Negative feedback regulation of cellular antiviral signaling by RBCK1-mediated degradation of IRF3.52
192772102009A large scale shRNA barcode screen identifies the circadian clock component ARNTL as putative regulator of the p53 tumor suppressor pathway.48
265251072015The paracaspase MALT1 cleaves HOIL1 reducing linear ubiquitination by LUBAC to dampen lymphocyte NF-κB signalling.39
221393742011Specific recognition of linear ubiquitin chains by the Npl4 zinc finger (NZF) domain of the HOIL-1L subunit of the linear ubiquitin chain assembly complex.38
237984812013Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.32
174494682007RBCK1 negatively regulates tumor necrosis factor- and interleukin-1-triggered NF-kappaB activation by targeting TAB2/3 for degradation.26
278109222016--LUBAC deficiency perturbs TLR3 signaling to cause immunodeficiency and autoinflammation.24
270061172016The paracaspase MALT1 cleaves the LUBAC subunit HOIL1 during antigen receptor signaling.19

Citation

Dessen P

RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51404/rbck1