ARR3 Gene (Protein Coding)

Arrestin 3

GC0XP070269
GIFtS:
42
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 p... See more...

Aliases for ARR3 Gene

Aliases for ARR3 Gene

  • Arrestin 3 2 3 5
  • ARRX 2 3 4
  • Arrestin 3 Retinal (X-Arrestin) 2 3
  • Retinal Cone Arrestin-3 3 4
  • Cone Arrestin 2 4
  • Arrestin 4 2 3
  • Arrestin-C 3 4
  • C-Arrestin 3 4
  • CArr 3 4
  • Arrestin 3, Retinal (X-Arrestin) 2
  • X-Arrestin 4
  • MYP26 3
  • ARR3 5
  • CAR 4

External Ids for ARR3 Gene

Previous GeneCards Identifiers for ARR3 Gene

  • GC0XP065666
  • GC0XP066965
  • GC0XP067721
  • GC0XP068354
  • GC0XP069271
  • GC0XP069404
  • GC0XP069488
  • GC0XP063309

Summaries for ARR3 Gene

Entrez Gene Summary for ARR3 Gene

  • 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]

GeneCards Summary for ARR3 Gene

ARR3 (Arrestin 3) is a Protein Coding gene. Diseases associated with ARR3 include Myopia 26, X-Linked, Female-Limited and Myopia. Among its related pathways are Phototransduction and CXCR4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include phosphoprotein binding and opsin binding. An important paralog of this gene is ARRB1.

UniProtKB/Swiss-Prot Summary for ARR3 Gene

  • May play a role in an as yet undefined retina-specific signal transduction. Could bind to photoactivated-phosphorylated red/green opsins.

Gene Wiki entry for ARR3 Gene

Additional gene information for ARR3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARR3 Gene

Genomics for ARR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ARR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ070268 Promoter 0.3 EPDnew 250.7 +0.0 10 0.1 ARR3 HSALNG0138423 RAB41
GH0XJ071213 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 14.2 +947.6 947611 4.2 ZMYM3 CEBPA YY1 MXD4 ZFP64 HOMEZ KMT2B FOXA2 SMAD4 RXRA GJB1 NONO TAF1 OGT MED12 P2RY4 ENSG00000229601 PABPN1P1 ARR3 RHOG2P
GH0XJ071250 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.9 +985.5 985482 6.1 SP1 ZNF207 IKZF1 MYC ZNF580 ZSCAN16 BRCA1 NFIC POLR2A ZIC2 NONO ZMYM3 LOC105373247 lnc-IL2RG-3 MED12 OGT TAF1 PABPN1P1 ERCC6L ARR3
GH0XJ071181 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +914.9 914862 4.1 SP1 ZNF654 IKZF1 MYC JUND ZNF580 ZNF592 ATF2 POLR2A CEBPA lnc-IL2RG-5 lnc-NLGN3-2 TAF1 NONO OGT MED12 PABPN1P1 ENSG00000229601 RPS23P8 ZMYM3
GH0XJ071144 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +877.9 877871 3.3 MYC NCOR1 IKZF1 POLR2A ZBTB10 MNT KLF7 ZNF148 MCM3 ARNT NLGN3 MED12 TAF1 NONO PABPN1P1 RHOG2P ARR3 P2RY4 OGT RPS23P8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARR3

Top Transcription factor binding sites by QIAGEN in the ARR3 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • ARP-1
  • E2F
  • E2F-1
  • ITF-2
  • Tal-1beta

Genomic Locations for ARR3 Gene

Latest Assembly
chrX:70,268,305-70,281,840
(GRCh38/hg38)
Size:
13,536 bases
Orientation:
Plus strand

Previous Assembly
chrX:69,488,184-69,501,690
(GRCh37/hg19 by Entrez Gene)
Size:
13,507 bases
Orientation:
Plus strand

chrX:69,488,155-69,501,690
(GRCh37/hg19 by Ensembl)
Size:
13,536 bases
Orientation:
Plus strand

Genomic View for ARR3 Gene

Genes around ARR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARR3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ARR3 Gene

Proteins for ARR3 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for ARR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36575-ARRC_HUMAN
    Recommended name:
    Arrestin-C
    Protein Accession:
    P36575
    Secondary Accessions:
    • B5B0B9
    • Q5JT23
    • Q5JT24
    • Q6IBF5
    • Q96EN2

    Protein attributes for ARR3 Gene

    Size:
    388 amino acids
    Molecular mass:
    42778 Da
    Quaternary structure:
    • Homodimer; disulfide-linked in response to retinal illumination (By similarity). Interacts with CXCR4; the interaction is dependent on the C-terminal phosphorylation of CXCR4 and modulates the calcium ion mobilization activity of CXCR4 (PubMed:20048153).

    Three dimensional structures from OCA and Proteopedia for ARR3 Gene

    Alternative splice isoforms for ARR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARR3 Gene

Protein Expression for ARR3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ARR3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARR3 Gene

Domains & Families for ARR3 Gene

Gene Families for ARR3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARR3 Gene

InterPro:
Blocks:
  • Arrestin

Suggested Antigen Peptide Sequences for ARR3 Gene

GenScript: Design optimal peptide antigens:
  • X-arrestin (ARRC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P36575

UniProtKB/Swiss-Prot:

ARRC_HUMAN :
  • Belongs to the arrestin family.
Family:
  • Belongs to the arrestin family.
genes like me logo Genes that share domains with ARR3: view

Function for ARR3 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for ARR3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in an as yet undefined retina-specific signal transduction. Could bind to photoactivated-phosphorylated red/green opsins.
GENATLAS Biochemistry:
X arrestin,expressed in the red-,green-,blue-sensitive cone photoreceptors modulator of cone phototransduction

Gene Ontology (GO) - Molecular Function for ARR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IBA 21873635
GO:0002046 opsin binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0051219 phosphoprotein binding IEA --
genes like me logo Genes that share ontologies with ARR3: view
genes like me logo Genes that share phenotypes with ARR3: view

Human Phenotype Ontology for ARR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARR3 Gene

MGI Knock Outs for ARR3:
  • Arr3 Arr3<tm1Chcr>

Animal Models for research

miRNA for ARR3 Gene

miRTarBase miRNAs that target ARR3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARR3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ARR3 Gene

Localization for ARR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARR3 Gene

Photoreceptor inner segment. Cell projection, cilium, photoreceptor outer segment.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARR3 gene
Compartment Confidence
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endosome 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ARR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IDA 23704327
GO:0005737 cytoplasm TAS 8224247
GO:0042995 cell projection IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with ARR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARR3 Gene

Pathways & Interactions for ARR3 Gene

genes like me logo Genes that share pathways with ARR3: view

Pathways by source for ARR3 Gene

1 Qiagen pathway for ARR3 Gene
  • Visual Cycle in Retinal Rods

Gene Ontology (GO) - Biological Process for ARR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation IEA --
GO:0002031 G protein-coupled receptor internalization IBA 21873635
GO:0006897 endocytosis IEA --
GO:0007165 signal transduction IEA --
GO:0007601 visual perception IEA,IBA 21873635
genes like me logo Genes that share ontologies with ARR3: view

No data available for SIGNOR curated interactions for ARR3 Gene

Drugs & Compounds for ARR3 Gene

Products:

  1. Drug products for research

(3) Drugs for ARR3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ARR3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARR3: view

Transcripts for ARR3 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for ARR3 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARR3

Alternative Splicing Database (ASD) splice patterns (SP) for ARR3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for ARR3 Gene

GeneLoc Exon Structure for
ARR3

Expression for ARR3 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARR3 Gene

mRNA expression in normal human tissues for ARR3 Gene
mRNA expression by BioGPS for ARR3 GenemRNA expression by GTEx for ARR3 Gene

mRNA differential expression in normal tissues according to GTEx for ARR3 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x4.8) and Colon - Transverse (x4.2).

Protein differential expression in normal tissues from HIPED for ARR3 Gene

This gene is overexpressed in Retina (63.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARR3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARR3

SOURCE GeneReport for Unigene cluster for ARR3 Gene:

Hs.308

mRNA Expression by UniProt/SwissProt for ARR3 Gene:

P36575-ARRC_HUMAN
Tissue specificity: Inner and outer segments, and the inner plexiform regions of the retina.

Evidence on tissue expression from TISSUES for ARR3 Gene

  • Eye(4.8)
  • Nervous system(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ARR3: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARR3 Gene

Orthologs for ARR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARR3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ARR3 29 30
  • 99.66 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ARR3 29 30
  • 88.14 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ARR3 29 30
  • 88.14 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Arr3 29 16 30
  • 85.65 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Arr3 29
  • 85.47 (n)
Oppossum
(Monodelphis domestica)
 Mammalia ARR3 30
  • 69 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ARR3 30
  • 46 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ARR3 29 30
  • 71.55 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ARR3 30
  • 63 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii arr3a 29 30
  • 64.18 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Arr1 30 31
  • 41 (a)
 ManyToMany
krz 30
  • 39 (a)
 ManyToMany
Arr2 30 31
  • 35 (a)
 ManyToMany
CG32683 30
  • 15 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea arr-1 30
  • 41 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10346 30
  • 46 (a)
 OneToMany
Species where no ortholog for ARR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ARR3 Gene

ENSEMBL:
Gene Tree for ARR3 (if available)
TreeFam:
Gene Tree for ARR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARR3: view image
Alliance of Genome Resources:
Additional Orthologs for ARR3

Paralogs for ARR3 Gene

Paralogs for ARR3 Gene

(6) SIMAP similar genes for ARR3 Gene using alignment to 2 proteins:

  • ARRC_HUMAN
  • D6RCT3_HUMAN
genes like me logo Genes that share paralogs with ARR3: view

Variants for ARR3 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARR3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs12857550 Benign: not provided 70,278,632(+) C/G
NM_004312.3(ARR3):c.896C>G (p.Ser299Cys) 		MISSENSE
rs140505250 Likely Benign: Anophthalmia-microphthalmia syndrome 70,280,804(+) C/T
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu) 		MISSENSE
rs150523832 Benign: not provided 70,277,727(+) C/T
NM_004312.3(ARR3):c.621C>T (p.His207=) 		SYNONYMOUS
rs155594111 Myopia 26, X-linked, female-limited (MYP26) [MIM:301010] p.Leu80Pro
rs1555941116 Pathogenic: Myopia 26, X-linked, female-limited 70,276,175(+) T/C
NM_004312.3(ARR3):c.239T>C (p.Leu80Pro) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARR3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARR3 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
nsv525258 CNV gain 19592680

Variation tolerance for ARR3 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARR3 Gene

Human Gene Mutation Database (HGMD)
ARR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARR3
Leiden Open Variation Database (LOVD)
ARR3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARR3 Gene

Disorders for ARR3 Gene

MalaCards: The human disease database

(23) MalaCards diseases for ARR3 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
myopia 26, x-linked, female-limited
  • myp26
myopia
  • near vision
refractive error
  • refractive errors
oguchi disease 2
  • night blindness, congenital stationary, oguchi type 2; csnbo2
oguchi disease 1
  • night blindness, congenital stationary, oguchi type 1; csnbo1
- elite association - COSMIC cancer census association via MalaCards
Search ARR3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARRC_HUMAN
  • Myopia 26, X-linked, female-limited (MYP26) [MIM:301010]: A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP26 is characterized by typical tigroid fundus changes commonly seen in early onset high myopia, and an unusual pattern of X-linked female-limited inheritance. {ECO:0000269 PubMed:27829781}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for ARR3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ARR3: view

No data available for Genatlas for ARR3 Gene

Publications for ARR3 Gene

  1. X-arrestin: a new retinal arrestin mapping to the X chromosome. (PMID: 8224247) Murakami A … Inana G (FEBS letters 1993) 2 3 4 22
  2. X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia. (PMID: 27829781) Xiao X … Zhang Q (Molecular vision 2016) 3 4 72
  3. Isolation and characterization of the human X-arrestin gene. (PMID: 9931451) Sakuma H … Inana G (Gene 1998) 3 4 22
  4. Immunolocalization of X-arrestin in human cone photoreceptors. (PMID: 8612728) Sakuma H … McLaren MJ (FEBS letters 1996) 3 4 22
  5. Cone arrestin identified by targeting expression of a functional family. (PMID: 8308033) Craft CM … Wiechmann AF (The Journal of biological chemistry 1994) 3 4 22

ExternalLinks

View latest publications for ARR3 gene in Mastermind

Products for ARR3 Gene

Sources for ARR3 Gene