ARR3 (arrestin 3)

Gene

• Entrez ID: 407
• Gene name: Arrestin 3
• Gene symbol: ARR3
• Synonyms (NCBI Gene): ARRX, MYP26, cArr
• Chromosome: X
• Chromosome location: Xq13.1
• 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-couple

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555941116	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555941129	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021808	hsa-miR-132-3p	Microarray	17612493

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IDA	23704327
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0002031	Process	G protein-coupled receptor internalization	IBA
GO:0002046	Function	Opsin binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183, 32814053
GO:0005737	Component	Cytoplasm	TAS	8224247
GO:0006897	Process	Endocytosis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8224247
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	8224247
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0051219	Function	Phosphoprotein binding	IEA

Other IDs

• MIM: 301770
• HGNC: 710
• e!Ensembl: ENSG00000120500

Protein

• UniProt ID: P36575
• Protein name: Arrestin-C (Cone arrestin) (C-arrestin) (cArr) (Retinal cone arrestin-3) (X-arrestin)
• Protein function: May play a role in an as yet undefined retina-specific signal transduction. Could bind to photoactivated-phosphorylated red/green opsins.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00339	Arrestin_N	14 → 171	Arrestin (or S-antigen), N-terminal domain	Domain
  PF02752	Arrestin_C	190 → 353	Arrestin (or S-antigen), C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Inner and outer segments, and the inner plexiform regions of the retina.
• Sequence:

  MSKVFKKTSSNGKLSIYLGKRDFVDHVDTVEPIDGVVLVDPEYLKCRKLFVMLTCAFRYG
  RDDLEVIGLTFRKDLYVQTLQVVPAESSSPQGPLTVLQERLLHKLGDNAYPFTLQMVTNL
  PCSVTLQPGPEDAGKPCGIDFEVKSFCAENPEETVSKRDYVRLVVRKVQFAPPEAGPGPS
  AQTIRRFLLSAQPLQLQAWMDREVHYHGEPISVNVSINNCTNKVIKKIKISVDQITDVVL
  YSLDKYTKTVFIQEFTETVAANSSFSQSFAVTPILAASCQKRGLALDGKLKHEDTNLASS
  TIIRPGMDKELLGILVSYKVRVNLMVSCGGILGDLTASDVGVELPLVLIHPKPSHEAASS
  EDIVIEEFTRKGEEESQKAVEAEGDEGS

• Sequence length: 388

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ARR3-related disorder	Pathogenic; Likely pathogenic	rs2147641058, rs2520927898	RCV003408193 RCV003902289
Myopia 26, X-linked, female-limited	Pathogenic; Likely pathogenic	rs2147641058, rs2520934320, rs765658563, rs1555941129, rs1555941116	RCV002267571 RCV005871522 RCV000538305 RCV000548664 RCV000527050

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	rs140505250	RCV000207379

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	21318602
Color Vision Defects	Associate	37268727
Hypoxia	Associate	39796220
Hypoxia Brain	Associate	39796220
Macular Degeneration	Associate	33482870
Myopia	Associate	27829781, 33482870, 35001458, 35567543, 37268727
Myopia 1	Associate	35001458
Osteosarcoma	Associate	39796220
Progressive hearing loss stapes fixation	Associate	27829781
Prostatic Neoplasms	Associate	27474750
Retinal Cone Dystrophy 1	Associate	37268727
Vision Disorders	Associate	37268727