Gene

exosc3

ID
ZDB-GENE-050706-140
Name
exosome component 3
Symbol
exosc3 Nomenclature History
Previous Names
  • im:7140537
  • zgc:112345 (1)
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to have RNA binding activity. Involved in axonogenesis; cerebellar Purkinje cell layer structural organization; and chordate embryonic development. Predicted to localize to cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Is expressed in brain and eye. Used to study pontocerebellar hypoplasia type 1B. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 1B. Orthologous to human EXOSC3 (exosome component 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With exosc3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
pontocerebellar hypoplasia type 1B Alliance Pontocerebellar hypoplasia, type 1B 614678
Associated With exosc3 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR004088 K Homology domain, type 1
Domain IPR037319 Rrp40, S1 domain
Family IPR026699 Exosome complex RNA-binding protein 1/RRP40/RRP4
Homologous_superfamily IPR012340 Nucleic acid-binding, OB-fold
Homologous_superfamily IPR036612 K Homology domain, type 1 superfamily
Domain Details Per Protein
Protein Length Exosome complex RNA-binding protein 1/RRP40/RRP4 K Homology domain, type 1 K Homology domain, type 1 superfamily Nucleic acid-binding, OB-fold Rrp40, S1 domain
UniProtKB:Q4KMD2 247
UniProtKB:A0A0R4IRK6 247
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