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FLASH GENE

Symbol

PSMD12

contributors: mct - updated : 15-03-2017

HGNC name	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
HGNC id	9557

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Nervous brain forebrain cerebral cortex frontal cortex highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial barrier/lining

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one PCI domain

HOMOLOGY

interspecies	homolog to murine Psmd12 (97.6pc)
	homolog to rattus Psmd12 (98.0pc)

Homologene

FAMILY

proteasome subunit p55 family

CATEGORY

regulatory

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

basic FUNCTION	acting as a regulatory subunit of the 26s proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins
	biological importance of PSMD12 as a scaffolding subunit in proteasome function during development and neurogenesis in particular
	plays an important role during brain, kidney, and craniofacial development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

PA700 complex

INTERACTION

DNA

RNA

small molecule

protein	interactions between FUS and proteins involved in neurodegenerative diseases and/or ubiquitin proteasome pathway, such as VCP, SFPQ, UBA1, and 26S proteosome non-ATPase regulatory subunit 12 (PSMD12)
	have direct interactions with other proteins of the UPS signaling pathway: UBE3A, UBE3B, HUWE1, USP7, and USP9X, whose dysfunction is associated with intellectual disability (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IDOD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS