Gene

tsen54

ID
ZDB-GENE-050522-454
Name
TSEN54 tRNA splicing endonuclease subunit
Symbol
tsen54 Nomenclature History
Previous Names
  • zgc:109927
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Acts upstream of or within brain morphogenesis. Predicted to be part of tRNA-intron endonuclease complex. Is expressed in midbrain hindbrain boundary and telencephalon. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 4; and pontocerebellar hypoplasia type 5. Orthologous to human TSEN54 (tRNA splicing endonuclease subunit 54).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Kasher et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tsen54 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
pontocerebellar hypoplasia type 2A Alliance Pontocerebellar hypoplasia type 2A 277470
pontocerebellar hypoplasia type 4 Alliance Pontocerebellar hypoplasia type 4 225753
pontocerebellar hypoplasia type 5 Alliance ?Pontocerebellar hypoplasia type 5 610204
Associated With tsen54 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR024336 tRNA-splicing endonuclease, subunit Sen54, N-terminal
Family IPR024337 tRNA-splicing endonuclease, subunit Sen54
Domain Details Per Protein
Protein Length tRNA-splicing endonuclease, subunit Sen54 tRNA-splicing endonuclease, subunit Sen54, N-terminal
UniProtKB:Q504E6 397
UniProtKB:F1QIM0 397
Transcripts
Genome Browsers
No data available
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