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 enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Kenny-Caffey syndrome type 1; 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
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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
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Domain Details Per Protein
Protein Additional Resources Length CAP Gly-rich domain CAP Gly-rich domain superfamily Leucine-rich repeat Leucine-rich repeat domain superfamily Leucine-rich repeat, typical subtype TBCE, ubiquitin-like (Ubl) domain Ubiquitin-like domain superfamily
UniProtKB:A0A8M6Z390 InterPro 424
UniProtKB:Q5U378 InterPro 521
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Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA tbce-201 (1) Ensembl 3,175 nt
mRNA tbce-203 (1) Ensembl 2,616 nt
mRNA tbce-204 (1) Ensembl 806 nt
mRNA tbce-207 (1) Ensembl 833 nt
ncRNA tbce-003 (1) Ensembl 896 nt
1 - 5 of 8 Show all
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