ARR3 arrestin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARR3provided by HGNC
Official Full Name: arrestin 3provided by HGNC
Primary source: HGNC:HGNC:710
See related: Ensembl:ENSG00000120500 MIM:301770; AllianceGenome:HGNC:710
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: ARRX; cArr; MYP26
Summary: The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G protein, resulting in termination of the G protein-coupled receptor signaling. The encoded protein also is a part of the centrosome, interacting with gamma-tubulin to help regulate proper centrosome function. [provided by RefSeq, May 2016]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (70268334..70281883)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (68701653..68715201)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (69488184..69501690)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.
Title: Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.
Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.
Title: Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Title: Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Cannabinoid 1 (CB1) receptor arrestin subtype-selectivity and phosphorylation dependence.
Title: Cannabinoid 1 (CB(1) ) receptor arrestin subtype-selectivity and phosphorylation dependence.
Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
Title: Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
The Y1R is able to bind Galpha0 protein as well as arr-3 simultaneously and internalizes as a supercomplex.
Title: Different mode of arrestin-3 binding at the human Y(1) and Y(2) receptor.
>15-fold higher affinity for inactive JNK3 than for active JNK3; shift in the binding site following JNK3 activation
Title: Arrestin-3 scaffolding of the JNK3 cascade suggests a mechanism for signal amplification.
These data highlight a novel arrestin-mediated modulation of CREB signalling, suggesting a reciprocal relationship between arrestin2 and arrestin3, wherein recruitment of arrestin3 restricts the ability of beta2AR to activate prolonged CREB phosphorylation by precluding recruitment of an arrestin2/Src/p38 complex.
Title: Reciprocal regulation of β(2)-adrenoceptor-activated cAMP response-element binding protein signalling by arrestin2 and arrestin3.
These data suggest that heterozygous mutations in ARR3 might be responsible for X-linked female-limited early onset high myopia in the three families, a pattern contrary to the standard X-linked recessive trait.
Title: X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.
In the cell membrane, arrestin-3 dissociates quickly and almost completely from the Beta2-adrenoceptor.
Title: Engineered hyperphosphorylation of the β2-adrenoceptor prolongs arrestin-3 binding and induces arrestin internalization.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Associated conditions

Description	Tests
Myopia 26, X-linked, female-limited MedGen: C4538795 OMIM: 301010 GeneReviews: Not available	Compare labs

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

SHGC-30005 (e-PCR)
- UniSTS:45107

DXS7111 (e-PCR)
- UniSTS:11369

L77849 (e-PCR)
- UniSTS:16858

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables opsin binding	IEA Inferred from Electronic Annotation more info
enables phosphoprotein 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 G protein-coupled receptor internalization	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: arrestin-C

Names: C-arrestin; arrestin 3 retinal (X-arrestin); arrestin 4; retinal cone arrestin-3

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.