Gene

klhl40b

ID
ZDB-GENE-060227-1
Name
kelch-like family member 40b
Symbol
klhl40b Nomenclature History
Previous Names
  • kbtbd5b
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; and skeletal muscle fiber differentiation. Acts upstream of or within skeletal muscle fiber development and swimming. Predicted to be located in cytoplasm. Predicted to be part of Cul3-RING ubiquitin ligase complex. Is expressed in eye; fin; skeletal muscle; and somite. Human ortholog(s) of this gene implicated in nemaline myopathy 8. Orthologous to human KLHL40 (kelch like family member 40).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Ravenscroft et al., 2013
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Ravenscroft et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With klhl40b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
nemaline myopathy 8 Alliance Nemaline myopathy 8, autosomal recessive 615348
Associated With klhl40b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000210 BTB/POZ domain
Domain IPR011705 BTB/Kelch-associated
Family IPR017096 BTB-kelch protein
Family IPR030607 Kelch-like protein 40
Homologous_superfamily IPR011333 SKP1/BTB/POZ domain superfamily
Homologous_superfamily IPR015915 Kelch-type beta propeller
Repeat IPR006652 Kelch repeat type 1
Domain Details Per Protein
Protein Length BTB/Kelch-associated BTB-kelch protein BTB/POZ domain Kelch-like protein 40 Kelch repeat type 1 Kelch-type beta propeller SKP1/BTB/POZ domain superfamily
UniProtKB:E9QJ30 618
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