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). Used to study pontocerebellar hypoplasia type 1B. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 1B. Is expressed in brain and eye. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7140537 (1 image)

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

Human Disease	Fish	Conditions	Citations
pontocerebellar hypoplasia type 1B	WT + MO1-exosc3	standard conditions	Francois-Moutal et al., 2018

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
Domain	IPR048541	Exosome complex component RRP40, N-terminal 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 component RRP40, N-terminal domain	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 InterPro	247

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	exosc3-201 (1) Ensembl	Havana	988 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	exosc3-002 (1) Ensembl	Havana	810 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