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. Human ortholog(s) of this gene implicated in glycogen storage disease. Is expressed in pharyngeal arch. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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

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	IPR044066	TRIAD supradomain
Domain	IPR047557	Heme-oxidized IRP2 ubiquitin ligase 1, Rcat domain
Domain	IPR047558	Heme-oxidized IRP2 ubiquitin ligase 1, BRcat domain
Domain	IPR047559	Heme-oxidized IRP2 ubiquitin ligase 1, modified RING finger, HC subclass
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	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	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	rbck1-201 (1) Ensembl	Havana	2629 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	rbck1-203 (1) Ensembl	Havana	493 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	rbck1-204 (1) Ensembl	Havana	518 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	rbck1-004 (1) Ensembl	Havana	204 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	rbck1-005 (1) Ensembl	Havana	490 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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