PRSS12 - serine protease 12 Gene

Also Known as MRT1; BSSP3; BSSP-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8492

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 References 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

Kringle: Kringle domain (100 - 165)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (174 - 270)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (284 - 380)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (391 - 485)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (504 - 599)

Trypsin

Trypsin: Trypsin (631 - 869)

  • 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

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 Set / 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
Others PRSS12 NCBI