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FLASH GENE

Symbol

PRSS12

contributors: mct - updated : 07-06-2023

HGNC name	protease, serine, 12 (neurotrypsin, motopsin)
HGNC id	9477

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRAR2 non syndromic mental retardation 2
Location	4q26      Physical location : 119.201.193 - 119.273.922
Synonym name	motopsin
	leydin
	brain-specific serine protease 3
	neurotrypsin
	serine protease 12
Synonym symbol(s)	BSSP3, BSSP-3, MGC12722, MOTOPSIN, MRT1
EC.number	3.4.21.-

DNA

TYPE	functioning gene
STRUCTURE	71.51 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003619 13 - 3351 NP_003610 - 875 - 1998 9540828

EXPRESSION

Type

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 diencephalon amygdala       brain limbic system hippocampus     Homo sapiens   spinal cord anterior horn     predominantly Homo sapiens Reproductive male system testis

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Reproductive Leydig cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide
	a proline-rich segment
	a kringle domain,followed by four scavenger receptor cysteine rich-domains
	a serine protease domain
	three scavenger receptor cysteine-rich domains
	a protease domain at the C-terminal

HOMOLOGY

Homologene

FAMILY	peptidase S1 family
	PRS protease subfamily S, serine,PRSS domain

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	presynaptic membrane and presynaptic active zone of both asymmetrical(excitatory) and symmetrical (inhibitory) synapses

basic FUNCTION	playing a role in neuronal plasticity and the proteolytic action
	may be crucial for adaptative synaptic functions, such as those required to establish and/or maintain higher cognitive functions
	mosaic serine proteases having several domains in the proenzyme fragment, which modulate proteolytic function
	multidomain protein that serves as a brain-specific serine protease
	preferentially affects social behaviors, and modulates the functions of hippocampal neurons
	mosaic serine protease secreted by neuronal cells, that is believed to be important for cognitive function
	plays a significant role in cognitive function and the development of the brain, since the loss of motopsin function causes severe mental retardation
	is activity-dependently secreted from neuronal cells, is captured around the synaptic cleft
	serine protease neurotrypsin, cleaves the heparan sulfate proteoglycan agrin
	AGRN and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

neurotrypsin/agrin system implicated in the regulation of adaptive reorganizations of the synaptic circuitry in the context of cognitive functions, such as learning and memory

INTERACTION

DNA

RNA

small molecule

protein	ITM2A is a motopsin-interacting protein
	secreted motopsin interacts likely with endothelial cells in the developing brain
	cleaves a proteoglycan, agrin
	SEZ6 bound to the proline-rich/kringle domain of motopsin, and interaction of motopsin and SEZ6 modulates the neuronal cell morphology

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRAR2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function causes nonsyndromic mental retardation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS