RCVRN recoverin [Homo sapiens (human)] - Gene

Summary

Official Symbol: RCVRNprovided by HGNC
Official Full Name: recoverinprovided by HGNC
Primary source: HGNC:HGNC:9937
See related: Ensembl:ENSG00000109047 MIM:179618; AllianceGenome:HGNC:9937
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RCV1
Summary: 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 phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (9896320..9905271, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (9804055..9813006, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (9799637..9808588, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Title: Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Recoverin (Rec) is a prototypical calcium sensor protein primarily expressed in the vertebrate retina. The binding of two Ca(2+) ions to the functional EF-hand motifs induces the extrusion of a myristoyl group that increases the affinity of Rec for the membrane and leads to the formation of a complex with rhodopsin kinase (GRK1).
Title: Effects of Membrane and Biological Target on the Structural and Allosteric Properties of Recoverin: A Computational Approach.
these data confirm the scaffolding function of several cluster-forming residues and point to their critical role in supporting physiological activity of recoverin
Title: Experimental Insight into the Structural and Functional Roles of the 'Black' and 'Gray' Clusters in Recoverin, a Calcium Binding Protein with Four EF-Hand Motifs.
High RCVRN expression is associated with renal tumors.
Title: The cancer-retina antigen recoverin as a potential biomarker for renal tumors.
Crystal Structure of Recoverin with Calcium Ions Bound to Both Functional EF Hands.
Title: Crystal Structure of Recoverin with Calcium Ions Bound to Both Functional EF Hands.
C39D substitution reduces alpha-helical content, decreases thermal stability and suppresses membrane association.
Title: Oxidation mimicking substitution of conservative cysteine in recoverin suppresses its membrane association.
Aberrant hypomethylation of the recoverin gene region, overlapping the promoter up-stream of the first exon and the first exon itself, is involved in the aberrant expression of recoverin in tumor cells.
Title: Aberrant demethylation of the recoverin gene is involved in the aberrant expression of recoverin in cancer cells.
A GRK1 region close to its C-terminus also seemed to be the binding site for S-modulin/recoverin.
Title: Amino acid residues in GRK1/GRK7 responsible for interaction with S-modulin/recoverin.
Human recoverin is expressed in SCLC cells cultured from an anti-recoverin antibody-negative patient with CAR. KK0206 might be important for further research on SCLC related retinopathy.
Title: Establishment of a novel small cell lung carcinoma cell line with specific recoverin expression from a patient with cancer-associated retinopathy.
recoverin has a pathological role in cancer-associated retinopathy
Title: Pathological roles of recoverin in cancer-associated retinopathy.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:197516 (e-PCR)
- UniSTS:155934

G15951 (e-PCR)
- UniSTS:7486

STS-S43855 (e-PCR)
- UniSTS:47945

RCVRN (e-PCR)
- UniSTS:504679

D17S2012 (e-PCR)
- UniSTS:31385

RCV1 (e-PCR)
- UniSTS:266689

GDB:277109 (e-PCR)
- UniSTS:156363

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium sensitive guanylate cyclase activator activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in phototransduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: recoverin

Names: cancer associated retinopathy antigen; cancer-associated retinopathy protein

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.