• Gene id: 92211

Gene Summary

• Gene Symbol: CDHR1   Gene   UCSC   Ensembl
• Aliases: CORD15, PCDH21, PRCAD, RP65
• Gene name: cadherin related family member 1
• Alternate names: cadherin-related family member 1, MT-protocadherin, photoreceptor cadherin, protocadherin-21,
• Gene location: 10q23.1 (158168269: 158109514)     Exons: 19     NC_000006.12
• Gene summary(Entrez): This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherite
• OMIM: 609502

Protein Summary

• Protein general information: Q96JP9  
  • Name: Cadherin related family member 1 (Photoreceptor cadherin) (prCAD) (Protocadherin 21)
  • Length: 859  
  • Mass: 93595
• Sequence:

  MRRCRWAALALGLLRLCLAQANFAPHFFDNGVGSTNGNMALFSLPEDTPVGSHVYTLNGTDPEGDPISYHISFDP
  STRSVFSVDPTFGNITLVEELDREREDEIEAIISISDGLNLVAEKVVILVTDANDEAPRFIQEPYVALVPEDIPA
  GSIIFKVHAVDRDTGSGGSVTYFLQNLHSPFAVDRHSGVLRLQAGATLDYERSRTHYITVVAKDGGGRLHGADVV
  FSATTTVTVNVEDVQDMAPVFVGTPYYGYVYEDTLPGSEVLKVVAMDGDRGKPNRILYSLVNGNDGAFEINETSG
  AISITQSPAQLQREVYELHVQVTEMSPAGSPAAQATVPVTIRIVDLNNHPPTFYGESGPQNRFELSMNEHPPQGE
  ILRGLKITVNDSDQGANAKFNLQLVGPRGIFRVVPQTVLNEAQVTIIVENSAAIDFEKSKVLTFKLLAVEVNTPE
  KFSSTADVVIQLLDTNDNVPKFDSLYYVARIPENAPGGSSVVAVTAVDPDTGPWGEVKYSTYGTGADLFLIHPST
  GLIYTQPWASLDAEATARYNFYVKAEDMEGKYSVAEVFITLLDVNDHPPQFGKSVQKKTMVLGTPVKIEAIDEDA
  EEPNNLVDYSITHAEPANVFDINSHTGEIWLKNSIRSLDALHNITPGRDCLWSLEVQAKDRGSPSFSTTALLKID
  ITDAETLSRSPMAAFLIQTKDNPMKAVGVLAGTMATVVAITVLISTATFWRNKKSNKVLPMRRVLRKRPSPAPRT
  IRIEWLKSKSTKAATKFMLKEKPPNENCNNNSPESSLLPRAPALPPPPSVAPSTGAAQWTVPTVSGSLTPQPTQP
  PPKPKTMGSPVQSTLISELKQKFEKKSVHNKAYF

• Structural information:
  • Protein Domains: (36..13-)
    (/note="Cadherin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (136..24-)
    (/note="Cadherin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (247..35-)
    (/note="Cadherin-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR002126  IPR015919  IPR020894  
  • Prosite: PS00232 PS50268
  • STRING: ENSP00000485478
• Other Databases: GeneCards:  CDHR1  Malacards:  CDHR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007155	cell adhesion	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0042622	photoreceptor outer segment membrane	IEA	cellular component
GO:0009987	cellular process	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0035845	photoreceptor cell outer segment organization	IMP	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008594	photoreceptor cell morphogenesis	IMP	biological process

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray