Hs06261113_cn

• Gene Symbol: ARRB1
• Assay Reference Genome Location: Chr.11:75264966 on build GRCh38
• Cytoband: 11q13.4

Target Gene Details

• Entrez Gene ID: 408
• Gene Name: arrestin beta 1
• Gene Aliases: ARB1, ARR1
• Location: Chr.11:75260122-75351831 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARRB1	NM_004041.4	16	2678	NP_004032.2
	NM_020251.3	15	2654	NP_064647.1
	XM_011545034.2	17	2562	XP_011543336.1
	XM_011545035.2	16	2538	XP_011543337.1
	XM_017017750.1	18	2634	XP_016873239.1
	XM_017017751.1	17	2610	XP_016873240.1
	XM_017017752.1	17	2590	XP_016873241.1
	XM_017017753.1	17	2654	XP_016873242.1
	XM_017017754.1	16	2566	XP_016873243.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv832211	Chr.11:75234794 - 75395081 on Build GRCh38	Loss	MIR326 ARRB1 TPBGL
dgv1225n100	Chr.11:75226932 - 75348452 on Build GRCh38	Gain	MIR326 ARRB1 TPBGL
esv3626851	Chr.11:75224463 - 75334026 on Build GRCh38	Gain	ARRB1 TPBGL

More Information

Additional Information:

For this assay, SNP(s) [rs138888342] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

activation of MAPK activity
positive regulation of protein phosphorylation
G-protein coupled receptor internalization
positive regulation of receptor internalization
transcription from RNA polymerase II promoter
apoptotic process
phototransduction
protein transport
protein ubiquitination
platelet activation
negative regulation of protein ubiquitination
positive regulation of protein ubiquitination
negative regulation of NF-kappaB transcription factor activity
positive regulation of protein binding
negative regulation of interleukin-6 production
negative regulation of interleukin-8 production
positive regulation of peptidyl-serine phosphorylation
negative regulation of GTPase activity
positive regulation of smooth muscle cell apoptotic process
positive regulation of Rho protein signal transduction
positive regulation of histone acetylation
positive regulation of insulin secretion involved in cellular response to glucose stimulus
response to antidepressant
follicle-stimulating hormone signaling pathway
stress fiber assembly
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
proteasome-mediated ubiquitin-dependent protein catabolic process
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
positive regulation of GTPase activity
positive regulation of transcription from RNA polymerase II promoter
negative regulation of ERK1 and ERK2 cascade
positive regulation of ERK1 and ERK2 cascade
positive regulation of histone H4 acetylation

Function(s)

histone acetyltransferase activity
enzyme inhibitor activity
GTPase activator activity
insulin-like growth factor receptor binding
protein binding
transcription factor binding
estrogen receptor binding
mitogen-activated protein kinase kinase binding
ubiquitin protein ligase binding
alpha-1A adrenergic receptor binding
alpha-1B adrenergic receptor binding
angiotensin receptor binding
follicle-stimulating hormone receptor binding
V2 vasopressin receptor binding
AP-2 adaptor complex binding
clathrin adaptor activity
cysteine-type endopeptidase inhibitor activity involved in apoptotic process
transcription regulatory region DNA binding
ion channel binding
protein phosphorylated amino acid binding