Cdhr1 cadherin-related family member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cdhr1provided by MGI
Official Full Name: cadherin-related family member 1provided by MGI
Primary source: MGI:MGI:2157782
See related: Ensembl:ENSMUSG00000021803 AllianceGenome:MGI:2157782
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Prcad; Pcdh21; mKIAA1775
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within photoreceptor cell maintenance. Located in photoreceptor outer segment membrane. Is expressed in several structures, including central nervous system; heart; metanephros; salivary gland primordium; and sensory organ. Human ortholog(s) of this gene implicated in cone-rod dystrophy 15. Orthologous to human CDHR1 (cadherin related family member 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in frontal lobe adult (RPKM 31.5), CNS E18 (RPKM 5.0) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 21.29 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (36799806..36820304, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (37077849..37098347, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data indicate junctions between the inner segment (IS) and the outer segment (OS) that contain the photoreceptor-specific cadherin, PCDH21 (pr-CAD).
Title: Rod disc renewal occurs by evagination of the ciliary plasma membrane that makes cadherin-based contacts with the inner segment.
prCAD ectodomain cleavage is an integral part of the outer segment assembly process, and outer segment assembly might be driven, at least in part, by the near irreversibility of proteolysis.
Title: Proteolytic shedding of the extracellular domain of photoreceptor cadherin. Implications for outer segment assembly.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Markers

Cdhr1 (e-PCR), detects polymorphism
- UniSTS:531468

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell outer segment organization	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell outer segment organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in photoreceptor outer segment membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cadherin-related family member 1

Names: photoreceptor cadherin; protocadherin-21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.