Gene

tbce

ID
ZDB-GENE-051030-120
Name
tubulin folding cofactor E
Symbol
tbce Nomenclature History
Previous Names
  • zgc:123075
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Predicted to have alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in hypoparathyroidism and hypoparathyroidism-retardation-dysmorphism syndrome. Orthologous to human TBCE (tubulin folding cofactor E).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tbce Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hypoparathyroidism-retardation-dysmorphism syndrome Alliance Hypoparathyroidism-retardation-dysmorphism syndrome 241410
Kenny-Caffey syndrome type 1 Alliance Kenny-Caffey syndrome, type 1 244460
Encephalopathy, progressive, with amyotrophy and optic atrophy 617207
Associated With tbce Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000938 CAP Gly-rich domain
Domain IPR044079 TBCE, ubiquitin-like (Ubl) domain
Homologous_superfamily IPR029071 Ubiquitin-like domain superfamily
Homologous_superfamily IPR032675 Leucine-rich repeat domain superfamily
Homologous_superfamily IPR036859 CAP Gly-rich domain superfamily
Repeat IPR003591 Leucine-rich repeat, typical subtype
Domain Details Per Protein
Protein Length CAP Gly-rich domain CAP Gly-rich domain superfamily Leucine-rich repeat domain superfamily Leucine-rich repeat, typical subtype TBCE, ubiquitin-like (Ubl) domain Ubiquitin-like domain superfamily
UniProtKB:A0A8M6Z390 424
UniProtKB:Q5U378 521
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