• Gene id: 5957

Gene Summary

• Gene Symbol: RCVRN   Gene   UCSC   Ensembl
• Aliases: RCV1
• Gene name: recoverin
• Alternate names: recoverin, cancer associated retinopathy antigen, cancer-associated retinopathy protein,
• Gene location: 17p13.1 (9905270: 9896319)     Exons: 3     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylati
• OMIM: 179618

Protein Summary

• Protein general information: P35243  
  • Name: Recoverin (Cancer associated retinopathy protein) (Protein CAR)
  • Length: 200  
  • Mass: 23130
  • Tissue specificity: Retina and pineal gland.
• Sequence:

  MGNSKSGALSKEILEELQLNTKFSEEELCSWYQSFLKDCPTGRITQQQFQSIYAKFFPDTDPKAYAQHVFRSFDS
  NLDGTLDFKEYVIALHMTTAGKTNQKLEWAFSLYDVDGNGTISKNEVLEIVMAIFKMITPEDVKLLPDDENTPEK
  RAEKIWKYFGKNDDDKLTEKEFIEGTLANKEILRLIQFEPQKVKEKMKNA

• Structural information:
  • Protein Domains: (25..6-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (61..9-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (97..13-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028846  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 2D8N
  • PDBsum: 2D8N
  • STRING: ENSP00000226193
• Other Databases: GeneCards:  RCVRN  Malacards:  RCVRN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0008048	calcium sensitive guanylate cyclase activator activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007602	phototransduction	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0031284	positive regulation of guanylate cyclase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04744	Phototransduction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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