Hs00856526_cn

• Gene Symbol: PSMC5
• Assay Reference Genome Location: Chr.17:63830826 on build GRCh38
• Cytoband: 17q23.3

Target Gene Details

• Entrez Gene ID: 5705
• Gene Name: proteasome 26S subunit, ATPase 5
• Gene Aliases: S8, SUG-1, SUG1, TBP10, TRIP1, p45, p45/SUG
• Location: Chr.17:63827410-63832027 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PSMC5	NM_001199163.1			NP_001186092.1
	NM_002805.5			NP_002796.4
	AK095836.1
	AK290758.1
	AK291878.1
	BC001932.1			AAH01932.1
	BC002367.2			AAH02367.3
	D44467.1			BAA07919.1
	L38810.1			AAC41735.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833510	Chr.17:63767293 - 63927790 on Build GRCh38	Loss	LOC107987248 CSHL1 CCDC47 GH1 CSH2 TCAM1P FTSJ3 SMARCD2 GH2 DDX42 PSMC5 CSH1
nsv517272	Chr.17:63814307 - 64020132 on Build GRCh38	Gain+Loss	CSHL1 GH1 PRR29-AS1 CSH1 LOC107987248 PRR29 ICAM2 CSH2 TCAM1P CD79B FTSJ3 SMARCD2 SCN4A GH2 DDX42 PSMC5
nsv510720	Chr.17:63809351 - 63908780 on Build GRCh38	Deletion	LOC107987248 CSH2 TCAM1P FTSJ3 SMARCD2 GH2 DDX42 PSMC5 CSH1

More Information

• Set Membership: Intragenic, 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
transcription from RNA polymerase II promoter
regulation of cellular amino acid metabolic process
ER-associated ubiquitin-dependent protein catabolic process
anaphase-promoting complex-dependent catabolic process
tumor necrosis factor-mediated signaling pathway
NIK/NF-kappaB signaling
Fc-epsilon receptor signaling pathway
negative regulation of programmed cell death
proteasome-mediated ubiquitin-dependent protein catabolic process
regulation of mRNA stability
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of RNA polymerase II transcriptional preinitiation complex assembly
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 inclusion body assembly
positive regulation of canonical Wnt signaling pathway
positive regulation of proteasomal protein catabolic process

Function(s)

transcription cofactor activity
protein binding
ATP binding
transcription factor binding
ATPase activity
TBP-class protein binding
thyrotropin-releasing hormone receptor binding
proteasome-activating ATPase activity