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FLASH GENE

Symbol

PSMD9

contributors: mct - updated : 02-01-2023

HGNC name	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
HGNC id	9567

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	29.51 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with two alternatively spliced isoforms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001261400 4 - 2410 NP_001248329 - 118 - 2021 34077860 NM_002813 6 - 2725 NP_002804 - 223 - 2021 34077860 p27.2

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly   stomach       highly Nervous nerve cranial nerve     highly Skin/Tegument skin       highly Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a PDZ (DHR) domain

HOMOLOGY

interspecies

homolog to yeast S.cerevisiae NAS2 gene

Homologene

FAMILY

PSM, proteasome family, proteasome subunit p27 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	19/22S regulator of proteasome, non ATPase subunit p27
	acting as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins
	implicated in diabetes onset and in degradation of intracellular proteins in antigenic peptides in the immune response to antigen presentation by MHC class I cells
	possible role of PSMD9 in microvascular pathology may be related to a causative pathogenetic role in inflammation as part of an autoimmune process
	is a PDZ domain containing chaperone of proteasome assembly
	potential role of PSMD9 in transcriptional regulation, mRNA processing and editing, hormone and receptor activity and protein translation
	PSMD9 plays a role in trafficking of ribosomal proteins into the nucleolus, therefore contributing to the maintenance of structural and morphological organization of the membrane-less nucleolar compartment

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component 26 S (prosome-macropain) of multicatalytic proteinase complex of proteasome
	subunit of the modulator trimer complex that stimulates the association of the PA700 regulator with the catalytic 20S proteasome to form the ATP-dependent active 26S proteasome

INTERACTION

DNA

RNA

small molecule

protein	HNRNPA1 is one of the novel interacting partners of PSMD9, and HNRNPA1 may act as a shuttle receptor and PSMD9 as a subunit acceptor
	in PSMD9 null cells, ribosomal proteins RPS25 and RPL15 fail to localise in the nucleolus

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to type 2 diabetes (T2D)

Variant & Polymorphism other	the A/T/G haplotype in PSMD9 is linked via the recessive allelic model to T2D

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS