Cplane1 - ciliogenesis and planar polarity effector 1 Gene

Also Known as Hug; Jbts17; b2b012Clo; 2410089E03Rik; 4732468D17Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 73692

Summary

Acts upstream of or within several processes, including animal organ development; embryonic digit morphogenesis; and protein localization to ciliary transition zone. Located in ciliary transition zone. Used to study Joubert syndrome 17. Human ortholog(s) of this gene implicated in Joubert syndrome 17 and Joubert syndrome with orofaciodigital defect. Orthologous to human CPLANE1 (ciliogenesis and planar polarity effector 1). [provided by Alliance of Genome Resources, Apr 2022]

Cplane1 Products (1)

mRNA Protein Name
NM_001162906.1 NP_001156378.1 ciliogenesis and planar polarity effector 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27158779 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within cardiac septum development IMP
IMP: Inferred from mutant phenotype
25807483 MGI
acts upstream of or within cerebellum development IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within cilium assembly IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within coronary vasculature development IMP
IMP: Inferred from mutant phenotype
25807483 MGI
acts upstream of or within embryonic digit morphogenesis IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within establishment of planar polarity IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within heart development IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within kidney development IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within protein localization to ciliary transition zone IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within roof of mouth development IMP
IMP: Inferred from mutant phenotype
25877302 MGI
acts upstream of or within ventricular septum development IMP
IMP: Inferred from mutant phenotype
25877302 MGI
Cellular Component GO Annotation Evidence References Source
located in ciliary transition zone IDA
IDA: Inferred from direct assay
25877302 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ciliogenesis and planar polarity effector 1

  • protein C5orf42 homolog

  • protein JBTS17

  • transmembrane protein ENSP00000382582 homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens Cplane1 NCBI NCBI:65250