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Rbck1 Gene Detail
Summary
  • Symbol
    Rbck1
  • Name
    RanBP-type and C3HC4-type zinc finger containing 1
  • Synonyms
    HOIL-1, HOIL-1L, Ubce7ip3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1344372
    NCBI Gene: 24105
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:152158254-152174573 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 74.83 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    421 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1344372
 protein coding gene Chr2:152158254-152174592 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026655
 protein coding gene Chr2:156844488-156860816 (-)
A/J MGP_AJ_G0026621
 protein coding gene Chr2:150599371-150615690 (-)
AKR/J MGP_AKRJ_G0026591
 protein coding gene Chr2:154994352-155010680 (-)
BALB/cJ MGP_BALBcJ_G0026630
 protein coding gene Chr2:150907599-150923918 (-)
C3H/HeJ MGP_C3HHeJ_G0026373
 protein coding gene Chr2:155378305-155394625 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027079
 protein coding gene Chr2:161426582-161442901 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024450
 protein coding gene Chr2:144191132-144207692 (-)
CAST/EiJ MGP_CASTEiJ_G0025834
 protein coding gene Chr2:155612997-155631346 (-)
CBA/J MGP_CBAJ_G0026351
 protein coding gene Chr2:167339201-167355520 (-)
DBA/2J MGP_DBA2J_G0026487
 protein coding gene Chr2:149815840-149832159 (-)
FVB/NJ MGP_FVBNJ_G0026452
 protein coding gene Chr2:148256603-148272922 (-)
LP/J MGP_LPJ_G0026591
 protein coding gene Chr2:157013219-157029545 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026474
 protein coding gene Chr2:171450202-171466350 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027134
 protein coding gene Chr2:154870859-154887178 (-)
PWK/PhJ MGP_PWKPhJ_G0025568
 protein coding gene Chr2:149334251-149350555 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025371
 protein coding gene Chr2:153706801-153724424 (-)
WSB/EiJ MGP_WSBEiJ_G0025904
 protein coding gene Chr2:155799598-155815939 (-)



Homology
more
  • Human Ortholog
    RBCK1, RANBP2-type and C3HC4-type zinc finger containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RBCK1, RANBP2-type and C3HC4-type zinc finger containing 1
  • Synonyms
    C20orf18, HOIL-1, HOIL1, PBMEI, PGBM1, RBCK2, RNF54, UBCE7IP3, XAP3, XAP4, ZRANB4
  • Links
    NCBI Gene ID: 10616
    neXtProt AC: NX_Q9BYM8
    UniProt: Q9BYM8

  • Chr Location
    20p13; chr20:407498-432139 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human RBCK1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 2 alleles in 2 genetic backgrounds
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit increased TNF-induced hepatocyte apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    15
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    771
  • Tissues
    41
  • cDNA Data
    8
  • Literature Summary
    6
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027466 Ensembl Gene Model | MGI Sequence Detail 16320 C57BL/6J ±  kb
transcript ENSMUST00000109847 Ensembl | MGI Sequence Detail 2384 Not Applicable  
polypeptide ENSMUSP00000105473 Ensembl | MGI Sequence Detail 508 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    cDNA 8
    Primer pair 2
    Other 1

    Microarray probesets 8
Other
Accession IDs
less
MGI:2139139
References
more
  • Summaries
    All 75
    Developmental Gene Expression 6
    Gene Ontology 15
    Phenotypes 31
  • Earliest
    J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
  • Latest
    J:352939 Fuseya Y, et al., Attenuation of HOIL-1L ligase activity promotes systemic autoimmune disorders by augmenting linear ubiquitin signaling. JCI Insight. 2024 Feb 8;9(3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory