Gene

sharpin

ID
ZDB-GENE-101223-1
Name
SHANK-associated RH domain interacting protein
Symbol
sharpin Nomenclature History
Previous Names
  • sipl1 (1)
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to enable ubiquitin binding activity and ubiquitin-protein transferase activity. Acts upstream of or within embryonic cranial skeleton morphogenesis; eye morphogenesis; and otic vesicle morphogenesis. Predicted to be part of LUBAC complex. Is expressed in brain; eye; otic vesicle; and pharyngeal arch. Orthologous to human SHARPIN (SHANK associated RH domain interactor).
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
sa32816Allele with one point mutationUnknownUnknownENU
sa39737Allele with one point mutationUnknownSplice SiteENU
1 - 2 of 2
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-sharpinN/ALandgraf et al., 2010
MO2-sharpinN/ALandgraf et al., 2010
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Human Disease
Associated With sharpin Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Autoinflammation with episodic fever and immune dysregulation 620795
1 - 1 of 1
Associated With sharpin Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001876 Zinc finger, RanBP2-type
Domain IPR031912 Sharpin, PH domain
Family IPR051628 Linear Ubiquitination-Associated E3 Ligases
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR029071 Ubiquitin-like domain superfamily
1 - 5 of 6 Show all
Domain Details Per Protein
Protein Additional Resources Length Linear Ubiquitination-Associated E3 Ligases PH-like domain superfamily Sharpin, PH domain Ubiquitin-like domain superfamily Zinc finger, RanBP2-type Zinc finger, RanBP2-type superfamily
UniProtKB:X1WDE8 InterPro 394
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 2
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA sharpin-201 (1) Ensembl 4,149 nt
1 - 1 of 1
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-33C14ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanSHARPIN8
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
MouseSharpin15
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
Citations
1 - 4 of 4
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