shrprbck1r

ID

ZDB-GENE-080220-52

Name

sharpin and rbck1 related

Symbol

shrprbck1r Nomenclature History

Previous Names

sipl1-rbck1 (1)
zgc:175152

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable ubiquitin binding activity and ubiquitin protein ligase activity. Acts upstream of or within embryonic cranial skeleton morphogenesis and otic vesicle morphogenesis. Predicted to be part of LUBAC complex. Is expressed in inner ear; midbrain hindbrain boundary; otic vesicle; and 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 shrprbck1r Human Ortholog

No data available

Associated With shrprbck1r 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	IPR001841	Zinc finger, RING-type
Domain	IPR001876	Zinc finger, RanBP2-type
Domain	IPR031912	Sharpin, PH domain
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
Domain	IPR057468	HOIL-1/Sharpin, LUBAC thetering domain
Family	IPR051628	Linear Ubiquitination-Associated E3 Ligases
Homologous_superfamily	IPR011993	PH-like domain superfamily
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	Additional Resources	Length
UniProtKB:A9JTG5	InterPro	714
UniProtKB:A0A1D5NSY4	InterPro	478
UniProtKB:A0AC58G001	InterPro	478
UniProtKB:A0AC58G003	InterPro	714
UniProtKB:A0AC58G021	InterPro	714