CDHR1

cadherin related family member 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000148600
UniProt:: Q96JP9
OMIM:: 609502
Synonyms:: CORD15, KIAA1775, PCDH21, RP65

Cilia effects upon perturbation of CDHR1

Loss-of-function effect:: Longer cilia

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.65) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:: retinitis pigmentosa; cone-rod dystrophy

Ciliopathy associations

Cone-Rod Dystrophy
Retinal Dystrophy/Degeneration

References: PMID:20805371, PMID:35066146, PMID:36837600, PMID:34926197, PMID:38091967, PMID:31136651, PMID:35627310

Subcellular localization

cilia

References: PMID:33330480

Functional category

Ciliary assembly/disassembly
Signaling (Hedgehog, GPCRs, ion channels)
Ciliary membrane

Function

siah1 and cdhr1a co-expression as well as protein localization in the retinal outer nuclear layer (ONL), and more precisely in the connecting cilium of rods and cones between 3–5 days post fertilization (dpf)(33330480).

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