Gene

cfap53

ID
ZDB-GENE-060503-508
Name
cilia and flagella associated protein 53
Symbol
cfap53 Nomenclature History
Previous Names
  • ccdc11
  • si:ch211-257i19.2
  • zgc:153145
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Involved in cilium movement. Acts upstream of or within cilium assembly and epithelial cilium movement involved in determination of left/right asymmetry. Located in axoneme and ciliary base. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; otic placode; pronephros; and spinal cord neural tube. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP53 (cilia and flagella associated protein 53).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cfap53 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
visceral heterotaxy Alliance Heterotaxy, visceral, 6, autosomal recessive 614779
Associated With cfap53 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR043597 Trichohyalin-plectin-homology domain
Family IPR033365 Cilia- and flagella-associated protein 53
Family IPR043596 CFAP53/TCHP
Domain Details Per Protein
Protein Length CFAP53/TCHP Cilia- and flagella-associated protein 53 Trichohyalin-plectin-homology domain
UniProtKB:A0A0R4IFG5 519
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