Hs05238673_cn

• Gene Symbol: PSMA1
• Assay Reference Genome Location: Chr.11:14533795 on build GRCh38
• Cytoband: 11p15.2

Target Gene Details

• Entrez Gene ID: 5682
• Gene Name: proteasome subunit alpha 1
• Gene Aliases: HC2, HEL-S-275, NU, PROS30
• Location: Chr.11:14504876-14643634 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PSMA1	NM_148976.2			NP_683877.1
	FJ224300.1
	M64992.1			AAA92734.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1048243	Chr.11:14498179 - 14790901 on Build GRCh38	Gain	PDE3B PSMA1 COPB1
nsv7685	Chr.11:14531333 - 14563740 on Build GRCh38	Insertion	PSMA1
esv3625423	Chr.11:14498858 - 14549991 on Build GRCh38	Loss	PSMA1 COPB1
esv3578250	Chr.11:14350967 - 14976647 on Build GRCh38	Gain	CYP2R1 PDE3B CALCA RRAS2 LOC107984314 PSMA1 COPB1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

MAPK cascade
protein polyubiquitination
stimulatory C-type lectin receptor signaling pathway
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
regulation of cellular amino acid metabolic process
anaphase-promoting complex-dependent catabolic process
tumor necrosis factor-mediated signaling pathway
NIK/NF-kappaB signaling
Fc-epsilon receptor signaling pathway
proteasome-mediated ubiquitin-dependent protein catabolic process
regulation of mRNA stability
T cell receptor signaling pathway
negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle
positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition
Wnt signaling pathway, planar cell polarity pathway
negative regulation of canonical Wnt signaling pathway
positive regulation of canonical Wnt signaling pathway

Function(s)

RNA binding
threonine-type endopeptidase activity
protein binding