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Aliases for PRSS12 Gene

Aliases for PRSS12 Gene

  • Protease, Serine 12 2 3 5
  • Neurotrypsin 2 3
  • Motopsin 2 4
  • Leydin 3 4
  • Protease, Serine, 12 (Neurotrypsin, Motopsin) 3
  • Brain-Specific Serine Protease 3 3
  • Serine Protease 12 4
  • EC 3.4.21.- 4
  • EC 3.4.21 61
  • BSSP-3 3
  • BSSP3 3
  • MRT1 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) is a Protein Coding gene. Diseases associated with PRSS12 include Autosomal Recessive Non-Syndromic Intellectual Disability and Non-Syndromic Intellectual Disability. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is DMBT1.

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 CIViC summary , 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

Enhancers for PRSS12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G118285 1.1 ENCODE 12.1 +64.2 64247 5.8 PKNOX1 ARNT CREB3L1 SIN3A ARID4B DMAP1 ZNF2 YY1 CBX5 FOS SNHG8 PRSS12 CICP16 SNORA24
GH04G118352 0.9 ENCODE 7.2 +0.3 328 2.5 ARNT FUS ZSCAN4 SIN3A ZNF2 RAD21 ZEB1 GLIS2 ZNF143 REST SNORA24 PRSS12 SNHG8
GH04G118416 0.5 ENCODE 11.4 -64.4 -64409 1.1 HIC1 ZNF366 PRDM4 SNHG8 PRSS12 NDUFS5P5 ENSG00000273716
GH04G118351 0.5 ENCODE 0.7 +1.8 1813 0.1 PRDM6 ZNF629 HNF4A ATF2 PRSS12 SNORA24
GH04G118275 1.4 Ensembl ENCODE 0.2 +73.5 73503 7.7 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A SNHG8 LOC729218 FKBP4P1 SNORA24 PRSS12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRSS12 on UCSC Golden Path with GeneCards custom track

Promoters for PRSS12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000172341 303 1001 ARNT FUS ZSCAN4 ZNF2 RAD21 ZEB1 ZNF121 GLIS2 ZNF143 REST

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

Genes around PRSS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for PRSS12 Gene


Post-translational modifications for PRSS12 Gene

  • Glycosylation at isoforms=26 and isoforms=683
  • Modification sites at PhosphoSitePlus

Other Protein References for PRSS12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PRSS12 Gene

Suggested Antigen Peptide Sequences for PRSS12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family.
  • 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:0004252 serine-type endopeptidase activity IEA --
GO:0005044 scavenger receptor activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS 9540828
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PRSS12: view
genes like me logo Genes that share phenotypes with PRSS12: view

Human Phenotype Ontology for PRSS12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRSS12 Gene

MGI Knock Outs for PRSS12:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PRSS12 Gene

Localization for PRSS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS12 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRSS12 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 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 IEA,ISS --
GO:0016020 membrane IEA --
GO:0030424 axon ISS,IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with PRSS12: view

Pathways & Interactions for PRSS12 Gene

SuperPathways for PRSS12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRSS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006887 exocytosis ISS,IEA --
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 and SIGNOR curated interactions for PRSS12 Gene

Drugs & Compounds for PRSS12 Gene

(1) Drugs for PRSS12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PRSS12: view

Transcripts for PRSS12 Gene

Unigene Clusters for PRSS12 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.2), Colon - Transverse (x4.6), and Testis (x4.3).

Protein differential expression in normal tissues from HIPED for PRSS12 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRSS12 Gene

Protein tissue co-expression partners for PRSS12 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRSS12 Gene:


SOURCE GeneReport for Unigene cluster for PRSS12 Gene:


mRNA Expression by UniProt/SwissProt for PRSS12 Gene:

Tissue specificity: Brain and Leydig cells of the testis.

Evidence on tissue expression from TISSUES for PRSS12 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • chest wall
  • heart
  • abdominal wall
  • foot
  • lower limb
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with PRSS12: view

Primer 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
(Pan troglodytes)
Mammalia PRSS12 34 35
  • 99.5 (n)
(Canis familiaris)
Mammalia PRSS12 34 35
  • 87.89 (n)
(Bos Taurus)
Mammalia PRSS12 34 35
  • 86.57 (n)
(Ornithorhynchus anatinus)
Mammalia PRSS12 35
  • 86 (a)
(Mus musculus)
Mammalia Prss12 34 16 35
  • 85.28 (n)
(Rattus norvegicus)
Mammalia Prss12 34
  • 84.29 (n)
(Monodelphis domestica)
Mammalia PRSS12 35
  • 77 (a)
(Gallus gallus)
Aves PRSS12 34 35
  • 78.64 (n)
(Anolis carolinensis)
Reptilia PRSS12 35
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia prss12 34
  • 70 (n)
(Danio rerio)
Actinopterygii prss12 35
  • 63 (a)
LOC566809 34
  • 62.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11836 36
  • 37 (a)
lox 35
  • 16 (a)
lox2 35
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 10 (a)
Species where no ortholog for PRSS12 was found in the sources mined by GeneCards:
  • 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

Variants for PRSS12 Gene

Sequence variations from dbSNP and Humsavar for PRSS12 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs876657372 Pathogenic 118,313,332(-) GGATG(-/ACGT)CAGCT reference, frameshift-variant
rs1045817 Likely benign 118,280,432(+) ATATG(C/T)AGCAT utr-variant-3-prime
rs116781486 Likely benign 118,352,777(+) AGCGG(A/G)GAAGA upstream-variant-2KB, utr-variant-5-prime
rs142775631 Likely benign 118,281,728(+) AAAAT(A/G)TTCAT utr-variant-3-prime
rs17516164 Likely benign 118,281,129(+) ATGGT(C/T)GGGGA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv5372n100 CNV loss 25217958
esv2662314 CNV deletion 23128226
esv2759279 CNV gain 17122850
esv34038 CNV loss 18971310
esv34354 CNV gain 17911159
esv3564502 CNV deletion 23714750
esv3601943 CNV loss 21293372
esv3894015 CNV gain 25118596
nsv1002771 CNV gain 25217958
nsv10558 CNV loss 18304495
nsv1074210 CNV deletion 25765185
nsv461631 CNV loss 19166990
nsv519017 CNV loss 19592680
nsv595331 CNV loss 21841781

Variation tolerance for PRSS12 Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.07; 92.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRSS12 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PRSS12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PRSS12 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
non-syndromic intellectual disability
axenfeld-rieger syndrome, type 3
  • anterior segment mesenchymal dysgenesis
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:12459588}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRSS12

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. (PMID: 12459588) Molinari F. … Colleaux L. (Science 2002) 3 4 22 64
  3. 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 22 64
  4. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64
  5. 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 22 64

Products for PRSS12 Gene

Sources for PRSS12 Gene

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