Gene

ift52

ID
ZDB-GENE-040614-3
Name
intraflagellar transport 52 homolog (Chlamydomonas)
Symbol
ift52 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Involved in cilium assembly and intraciliary transport. Localizes to axoneme and ciliary basal body. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Is expressed in several structures, including Kupffer's vesicle; forerunner cell group; nervous system; neural tube; and pronephric duct. Orthologous to human IFT52 (intraflagellar transport 52).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
11 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Dupont et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ift52 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Short-rib thoracic dysplasia 16 with or without polydactyly 617102
Associated With ift52 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR019196 ABC-type uncharacterised transport system
Family IPR039975 Intraflagellar transport protein 52 homolog
Homologous_superfamily IPR029062 Class I glutamine amidotransferase-like
Domain Details Per Protein
Protein Length ABC-type uncharacterised transport system Class I glutamine amidotransferase-like Intraflagellar transport protein 52 homolog
UniProtKB:Q5PRA7 435
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-ift52 polyclonal Rabbit
  • IHC
  • WB
5
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations