Gene

rbck1

ID
ZDB-GENE-040704-3
Name
RanBP-type and C3HC4-type zinc finger containing 1
Symbol
rbck1 Nomenclature History
Previous Names
  • zgc:91964
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to have ubiquitin binding activity and ubiquitin-protein transferase activity. Involved in embryonic cranial skeleton morphogenesis. Predicted to localize to LUBAC complex. Is expressed in pharyngeal arch. Human ortholog(s) of this gene implicated in glycogen storage disease. Orthologous to human RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Landgraf et al., 2010
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Landgraf et al., 2010
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rbck1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Associated With rbck1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017907 Zinc finger, RING-type, conserved site
Domain IPR000626 Ubiquitin-like domain
Domain IPR001841 Zinc finger, RING-type
Domain IPR001876 Zinc finger, RanBP2-type
Domain IPR002867 IBR domain
Domain IPR044066 TRIAD supradomain
Family IPR026261 RanBP-type and C3HC4-type zinc finger-containing protein 1/SHARPIN
Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
Homologous_superfamily IPR029071 Ubiquitin-like domain superfamily
Homologous_superfamily IPR036443 Zinc finger, RanBP2-type superfamily
Domain Details Per Protein
Protein Length IBR domain RanBP-type and C3HC4-type zinc finger-containing protein 1/SHARPIN TRIAD supradomain Ubiquitin-like domain Ubiquitin-like domain superfamily Zinc finger, RanBP2-type Zinc finger, RanBP2-type superfamily Zinc finger, RING/FYVE/PHD-type Zinc finger, RING-type Zinc finger, RING-type, conserved site
UniProtKB:F1QRZ7 173
UniProtKB:Q6GMF9 515
UniProtKB:Q1LXG6 99
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations