Gene

intu

ID
ZDB-GENE-110914-91
Name
inturned planar cell polarity protein
Symbol
intu Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to be involved in several processes, including cilium assembly; limb development; and regulation of smoothened signaling pathway. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. Orthologous to human INTU (inturned planar cell polarity protein).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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 intu Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
orofaciodigital syndrome XVII Alliance ?Orofaciodigital syndrome XVII 617926
?Short-rib thoracic dysplasia 20 with polydactyly 617925
Associated With intu Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Domain IPR043987 CCZ1/INTU/HSP4, first Longin domain
Domain IPR043988 CCZ1/INTU, second Longin domain
Domain IPR043989 CCZ1/INTU/HPS4, third Longin domain
Family IPR039151 Protein inturned
Homologous_superfamily IPR036034 PDZ superfamily
Domain Details Per Protein
Protein Length CCZ1/INTU/HPS4, third Longin domain CCZ1/INTU/HSP4, first Longin domain CCZ1/INTU, second Longin domain PDZ domain PDZ superfamily Protein inturned
UniProtKB:E7FCN8
UniProtKB:A0A8M1PT24 926
UniProtKB:A0A0H2UJB2 926
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