PRSS12 - serine protease 12 Gene

Homo sapiens

Also known as MRT1; BSSP3; BSSP-3

Gene ID: 8492 | Gene type: protein coding

About PRSS12

Cytogenetic location: 4q26 Genomic coordinates (GRCh38): 4:118,280,038-118,353,003 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 15 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 7.3), gall bladder (RPKM 6.2) and 18 other tissues.

Summary

This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]

PRSS12 Products(1)

mRNA	Protein	Name
NM_003619.4	NP_003610.2	neurotrypsin precursor

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	Source
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	12459588	GOA
is active in presynapse	IDA IDA: Inferred from direct assay	12459588	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRSS12 Protein Structure

Kringle

SRCR

Trypsin

0
200
400
600
800
875 a.a.

Protein Preferred Names

Protein Names

neurotrypsin

brain-specific serine protease 3

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 1

MRT1	Autosomal Recessive Intellectual Developmental Disorder 1
Mental Retardation, Autosomal Recessive 1

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Spinal Muscular Atrophy, Type Ii

SMA2	Sma Ii
Muscular Atrophy, Spinal, Intermediate Type	Muscular Atrophy, Spinal, Infantile Chronic Form
Intermediate Spinal Muscular Atrophy	Spinal Muscular Atrophy Type Ii
Spinal Muscular Atrophy-2	Spinal Muscular Atrophy 2
Spinal Muscular Atrophy Type 2	Dubowitz Disease
Proximal Spinal Muscular Atrophy Type 2	Sma Type 2
Sma Type Ii	Sma-Ii
Spinal Muscular Atrophy Infantile Chronic Form	Spinal Muscular Atrophy Intermediate Type
Spinal Muscular Atrophies Of Childhood	Atrophy, Muscular, Spinal, Type Ii
Muscular Atrophy, Spinal, Type Ii

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11246	PRSS12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PRSS12	VGNC	VGNC:45062
Bos taurus	PRSS12	VGNC	VGNC:33413
Macaca mulatta	PRSS12	VGNC	VGNC:76431
Rattus norvegicus	PRSS12	RGD	RGD:69238
Mus musculus	PRSS12	MGD	MGI:1100881
Felis catus	PRSS12	VGNC	VGNC:69088

Name
Email *

	Sorry, but the email address you supplied was invalid.