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
  • Arrestin 3 Retinal (X-Arrestin) 2 3
  • Retinal Cone Arrestin-3 3 4
  • Cone Arrestin 2 4
  • Arrestin-C 3 4
  • Arrestin 4 2 3
  • C-Arrestin 3 4
  • ARRX 3 4
  • CArr 3 4
  • Arrestin 3, Retinal (X-Arrestin) 2
  • X-Arrestin 4
  • MYP26 3
  • 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 Retinal Vasculitis. Among its related pathways are Thromboxane A2 receptor signaling and Visual Cycle in Retinal Rods. 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 for ARR3 Gene

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
GH0XJ070262 Enhancer 0.4 Ensembl 750.6 -0.6 -602 0.2 CTCF REST TRIM22 ZBED1 ARR3 P2RY4
GH0XJ070268 Promoter 0.3 EPDnew 750.6 +4.8 4812 0.1 ARR3 RAB41
GH0XJ071066 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.3 +804.4 804397 3.4 SP1 SREBF1 SIX5 SMARCE1 POLR2A USF2 ATF1 FOS CREB1 HCFC1 SNX12 ENSG00000213018 MED12 TAF1 NONO ENSG00000229601 ENSG00000213706 P2RY4 ARR3 OGT
GH0XJ071181 Promoter/Enhancer 2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 21.6 +919.4 919368 3.5 SP1 ZBTB40 SMARCE1 POLR2A USF2 NR2F6 FOS CREB1 ZNF362 MYC lnc-IL2RG-5 lnc-NLGN3-2 TAF1 NONO MED12 ENSG00000213018 OGT P2RY4 ENSG00000229601 RPS23P8
GH0XJ071144 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +882.7 882673 3.3 ZNF785 ZBTB40 CTCF SMARCE1 CC2D1A L3MBTL2 MNT ZNF652 ZC3H8 ZNF148 NLGN3 MED12 TAF1 RTL5 ENSG00000213706 NONO ENSG00000213018 ARR3 P2RY4 OGT
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ARR3 Gene
chrX:70,263,503-70,281,840
(GRCh38/hg38)
Size:
18,338 bases
Orientation:
Plus strand
chrX:69,488,155-69,501,690
(GRCh37/hg19)
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

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  • 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:
    • Interacts with CXCR4; the interaction is dependent on the C-terminal phosphorylation of CXCR4 and modulates the calcium ion mobilization activity of CXCR4.

    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

Blocks:
InterPro:
ProtoNet:

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

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

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 Model Products

CRISPR Products

miRNA for ARR3 Gene

miRTarBase miRNAs that target ARR3

Inhibitory RNA Products

  • 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

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
cytoskeleton 1
nucleus 1
endosome 1
lysosome 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:0045202 synapse IEA --
genes like me logo Genes that share ontologies with ARR3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and 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 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

(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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ARR3 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • 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
ECgene alternative splicing isoforms for
ARR3

Expression for ARR3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of ARR3 Gene:

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(4.7)
genes like me logo Genes that share expression patterns with ARR3: view

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 33 32
  • 99.66 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ARR3 33 32
  • 88.14 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ARR3 33 32
  • 88.14 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Arr3 17 33 32
  • 85.65 (n)
rat
(Rattus norvegicus)
 Mammalia Arr3 32
  • 85.47 (n)
oppossum
(Monodelphis domestica)
 Mammalia ARR3 33
  • 69 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ARR3 33
  • 46 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ARR3 33 32
  • 71.55 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ARR3 33
  • 63 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii arr3a 33 32
  • 64.18 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Arr1 33 34
  • 41 (a)
 ManyToMany
krz 33
  • 39 (a)
 ManyToMany
Arr2 33 34
  • 35 (a)
 ManyToMany
CG32683 33
  • 15 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea arr-1 33
  • 41 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10346 33
  • 46 (a)
 OneToMany
Species where no ortholog for ARR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ARR3 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs140505250 likely-benign, Anophthalmia - microphthalmia 70,280,804(+) C/G/T coding_sequence_variant, missense_variant
rs1555941116 pathogenic, MYOPIA 26, X-LINKED, FEMALE-LIMITED, Myopia 26, X-linked, female-limited (MYP26) [MIM:301010] 70,276,175(+) T/C coding_sequence_variant, missense_variant
rs1555941129 pathogenic, MYOPIA 26, X-LINKED, FEMALE-LIMITED 70,276,234(+) C/T coding_sequence_variant, stop_gained
rs765658563 pathogenic, MYOPIA 26, X-LINKED, FEMALE-LIMITED 70,278,629(+) C/A/T coding_sequence_variant, missense_variant
VAR_080597 Myopia 26, X-linked, female-limited (MYP26) [MIM:301010] p.Ala298Asp

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARR3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ARR3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ARR3

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 56
  2. Isolation and characterization of the human X-arrestin gene. (PMID: 9931451) Sakuma H … Inana G (Gene 1998) 3 4 23 56
  3. Immunolocalization of X-arrestin in human cone photoreceptors. (PMID: 8612728) Sakuma H … McLaren MJ (FEBS letters 1996) 3 4 23 56
  4. Cone arrestin identified by targeting expression of a functional family. (PMID: 8308033) Craft CM … Wiechmann AF (The Journal of biological chemistry 1994) 3 4 23 56
  5. X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia. (PMID: 27829781) Xiao X … Zhang Q (Molecular vision 2016) 3 4 56

ExternalLinks

View latest publications for ARR3 gene in Mastermind

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