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 enable metal ion binding activity and ubiquitin protein ligase activity. Acts upstream of or within embryonic cranial skeleton morphogenesis. 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
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Landgraf et al., 2010
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
la014129TgTransgenic insertionUnknownUnknownDNA
la022114TgTransgenic insertionUnknownUnknownDNA
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-rbck1N/ALandgraf et al., 2010
MO2-rbck1N/ALandgraf et al., 2010
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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
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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 IPR044066 TRIAD supradomain
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Domain Details Per Protein
Protein Additional Resources Length Heme-oxidized IRP2 ubiquitin ligase 1, BRcat domain Heme-oxidized IRP2 ubiquitin ligase 1, modified RING finger, HC subclass Heme-oxidized IRP2 ubiquitin ligase 1, Rcat domain Linear Ubiquitination-Associated E3 Ligases 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:Q6GMF9 InterPro 515
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 22
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA rbck1-201 (1) Ensembl 2,629 nt
mRNA rbck1-203 (1) Ensembl 493 nt
mRNA rbck1-204 (1) Ensembl 518 nt
mRNA rbck1-206 (1) Ensembl 1,571 nt
ncRNA rbck1-004 (1) Ensembl 204 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-102C8ZFIN Curated Data
EncodescDNAMGC:91964ZFIN Curated Data
EncodescDNAMGC:192378ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanRBCK120
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
MouseRbck12
Amino acid sequence comparison (1)
Citations
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