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Aliases for PRSS12 Gene

Aliases for PRSS12 Gene

  • Protease, Serine, 12 (Neurotrypsin, Motopsin) 2 3
  • Leydin 3 4
  • BSSP3 3 6
  • MRT1 3 6
  • Brain-Specific Serine Protease 3 3
  • Serine Protease 12 4
  • Neurotrypsin 3
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • Motopsin 4
  • BSSP-3 3

External Ids for PRSS12 Gene

Previous GeneCards Identifiers for PRSS12 Gene

  • GC04M119955
  • GC04M119483
  • GC04M119595
  • GC04M119662
  • GC04M119663
  • GC04M119560
  • GC04M119201
  • GC04M114936

Summaries for PRSS12 Gene

Entrez Gene Summary for PRSS12 Gene

  • This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]

GeneCards Summary for PRSS12 Gene

PRSS12 (Protease, Serine, 12 (Neurotrypsin, Motopsin)) is a Protein Coding gene. Diseases associated with PRSS12 include autosomal recessive non-syndromic intellectual disability. GO annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is LOXL1.

UniProtKB/Swiss-Prot for PRSS12 Gene

  • Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRSS12 Gene

Genomics for PRSS12 Gene

Regulatory Elements for PRSS12 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PRSS12 Gene

118,280,038 bp from pter
118,353,003 bp from pter
72,966 bases
Minus strand

Genomic View for PRSS12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRSS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS12 Gene

Proteins for PRSS12 Gene

  • Protein details for PRSS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q9UP16

    Protein attributes for PRSS12 Gene

    875 amino acids
    Molecular mass:
    97067 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRSS12 Gene

Proteomics data for PRSS12 Gene at MOPED

Post-translational modifications for PRSS12 Gene

  • Glycosylation at Asn26 and Asn683
  • Modification sites at PhosphoSitePlus

Other Protein References for PRSS12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains for PRSS12 Gene

Gene Families for PRSS12 Gene

  • PRSS :Serine peptidases / Serine peptidases

Suggested Antigen Peptide Sequences for PRSS12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P56730
  • Contains 1 kringle domain.
  • Contains 1 peptidase S1 domain.
  • Contains 4 SRCR domains.
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS12: view

Function for PRSS12 Gene

Molecular function for PRSS12 Gene

GENATLAS Biochemistry:
protease serine 12,neurotrypsin,motopsin,expressed in the nervous system,hippocampal formation amygdala and cerebral cortex
UniProtKB/Swiss-Prot Function:
Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations.

Enzyme Numbers (IUBMB) for PRSS12 Gene

Gene Ontology (GO) - Molecular Function for PRSS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005044 scavenger receptor activity IEA --
GO:0008233 peptidase activity --
GO:0008236 serine-type peptidase activity TAS 9540828
genes like me logo Genes that share ontologies with PRSS12: view
genes like me logo Genes that share phenotypes with PRSS12: view

Animal Models for PRSS12 Gene

MGI Knock Outs for PRSS12:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for PRSS12 Gene

Localization for PRSS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS12 Gene


Subcellular locations from

Jensen Localization Image for PRSS12 Gene COMPARTMENTS Subcellular localization image for PRSS12 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PRSS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane --
GO:0030424 axon ISS --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with PRSS12: view

Pathways for PRSS12 Gene

SuperPathways for PRSS12 Gene

No Data Available

Interacting Proteins for PRSS12 Gene

Gene Ontology (GO) - Biological Process for PRSS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0006887 exocytosis ISS --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0031638 zymogen activation IEA --
genes like me logo Genes that share ontologies with PRSS12: view

No data available for Pathways by source for PRSS12 Gene

Compounds for PRSS12 Gene

(1) Novoseek inferred chemical compound relationships for PRSS12 Gene

Compound -log(P) Hits PubMed IDs
serine 59.9 7
genes like me logo Genes that share compounds with PRSS12: view

Transcripts for PRSS12 Gene

mRNA/cDNA for PRSS12 Gene

Unigene Clusters for PRSS12 Gene

Protease, serine, 12 (neurotrypsin, motopsin):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRSS12

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15
SP1: - -
SP3: -

Relevant External Links for PRSS12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRSS12 Gene

mRNA expression in normal human tissues for PRSS12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRSS12 Gene

This gene is overexpressed in Vagina (6.2), Colon - Transverse (4.6), and Testis (4.3).

Protein differential expression in normal tissues for PRSS12 Gene

This gene is overexpressed in Skin (61.7) and Urinary Bladder (6.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PRSS12 Gene

SOURCE GeneReport for Unigene cluster for PRSS12 Gene Hs.445857

mRNA Expression by UniProt/SwissProt for PRSS12 Gene

Tissue specificity: Brain and Leydig cells of the testis
genes like me logo Genes that share expressions with PRSS12: view

Expression partners for PRSS12 Gene

In Situ Assay Products

Orthologs for PRSS12 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS12 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PRSS12 35
  • 86.57 (n)
  • 85.99 (a)
PRSS12 36
  • 86 (a)
(Canis familiaris)
Mammalia PRSS12 35
  • 87.89 (n)
  • 87.65 (a)
PRSS12 36
  • 88 (a)
(Mus musculus)
Mammalia Prss12 35
  • 85.28 (n)
  • 86.99 (a)
Prss12 16
Prss12 36
  • 82 (a)
(Pan troglodytes)
Mammalia PRSS12 35
  • 99.5 (n)
  • 99.66 (a)
PRSS12 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Prss12 35
  • 84.29 (n)
  • 86.33 (a)
(Monodelphis domestica)
Mammalia PRSS12 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia PRSS12 36
  • 86 (a)
(Gallus gallus)
Aves PRSS12 35
  • 78.64 (n)
  • 84.44 (a)
PRSS12 36
  • 78 (a)
(Anolis carolinensis)
Reptilia PRSS12 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia prss12 35
  • 70 (n)
  • 70.87 (a)
(Danio rerio)
Actinopterygii LOC566809 35
  • 62.77 (n)
  • 63.51 (a)
prss12 36
  • 63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11836 37
  • 37 (a)
lox 36
  • 16 (a)
lox2 36
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 10 (a)
Species with no ortholog for PRSS12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRSS12 Gene

Gene Tree for PRSS12 (if available)
Gene Tree for PRSS12 (if available)

Paralogs for PRSS12 Gene

Paralogs for PRSS12 Gene

genes like me logo Genes that share paralogs with PRSS12: view

Variants for PRSS12 Gene

Sequence variations from dbSNP and Humsavar for PRSS12 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs617140 -- 118,290,823(+) AACAG(C/T)CTCTC intron-variant
rs623035 -- 118,283,696(+) ccctc(A/G)tattt intron-variant
rs635389 -- 118,292,630(+) ttaag(C/T)gaatg intron-variant
rs705837 -- 118,304,785(+) CTGTT(C/T)ACTTT intron-variant
rs705838 -- 118,318,745(+) ATTAC(A/C)CATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRSS12 Gene

Variant ID Type Subtype PubMed ID
dgv1668e1 CNV Complex 17122850
esv34354 CNV Gain 17911159
nsv519017 CNV Loss 19592680
esv34038 CNV Loss 18971310
nsv10558 CNV Loss 18304495
esv2662314 CNV Deletion 23128226
nsv461631 CNV Loss 19166990

Relevant External Links for PRSS12 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS12 Gene

Disorders for PRSS12 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for PRSS12 Gene in MalaCards »

(1) Diseases for PRSS12 Gene including...

(1) OMIM Diseases for PRSS12 Gene (606709)


  • Mental retardation, autosomal recessive 1 (MRT1) [MIM:249500]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PRSS12 Gene

(1) Novoseek inferred disease relationships for PRSS12 Gene

Disease -log(P) Hits PubMed IDs
mental retardation 57.8 5

Relevant External Links for PRSS12

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PRSS12: view

No data available for Genatlas for PRSS12 Gene

Publications for PRSS12 Gene

  1. Cloning and sequencing of the cDNA encoding human neurotrypsin. (PMID: 9540828) Proba K. … Sonderegger P. (Biochim. Biophys. Acta 1998) 2 3 4 23
  2. Cloning and structural analysis of leydin, a novel human serine protease expressed by the Leydig cells of the testis. (PMID: 10103056) Poorafshar M. … Hellman L. (Eur. J. Biochem. 1999) 3 4 23
  3. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. (PMID: 12459588) Molinari F. … Colleaux L. (Science 2002) 3 4 23
  4. Assignment of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25-->q26 by in situ hybridization. (PMID: 10343120) Kozlov S.V. … Sonderegger P. (Cytogenet. Cell Genet. 1999) 3 23
  5. Neurotrypsin, a novel multidomain serine protease expressed in the nervous system. (PMID: 9245503) Gschwend T.P. … Sonderegger P. (Mol. Cell. Neurosci. 1997) 2 3

Products for PRSS12 Gene

Sources for PRSS12 Gene

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