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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 64
  • Motopsin 4
  • BSSP-3 3

External Ids for PRSS12 Gene

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

Genomic Location for PRSS12 Gene

Start:
118,280,038 bp from pter
End:
118,353,003 bp from pter
Size:
72,966 bases
Orientation:
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

Regulatory Elements for PRSS12 Gene

Proteins for PRSS12 Gene

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

    Protein Symbol:
    P56730-NETR_HUMAN
    Recommended name:
    Neurotrypsin
    Protein Accession:
    P56730
    Secondary Accessions:
    • Q9UP16

    Protein attributes for PRSS12 Gene

    Size:
    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn26 and Asn683

Other Protein References for PRSS12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for PRSS12 Gene

Gene Families for PRSS12 Gene

HGNC:
  • PRSS :Serine peptidases / Serine peptidases

UniProtKB/Swiss-Prot:

NETR_HUMAN
Domain:
  • Contains 1 kringle domain.:
    • P56730
  • Contains 1 peptidase S1 domain.:
    • P56730
  • Contains 4 SRCR domains.:
    • P56730
Family:
  • Belongs to the peptidase S1 family.:
    • P56730
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

Secreted.

Subcellular locations from

COMPARTMENTS
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

Unigene Clusters for PRSS12 Gene

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

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: - -
SP2:
SP3: -

Relevant External Links for PRSS12 Gene

GeneLoc Exon Structure for
PRSS12
ECgene alternative splicing isoforms for
PRSS12

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).

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

P56730-NETR_HUMAN
Tissue specificity: Brain and Leydig cells of the testis
genes like me logo Genes that share expressions with PRSS12: view

Orthologs for PRSS12 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRSS12 36
  • 99.5 (n)
  • 99.66 (a)
PRSS12 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRSS12 36
  • 86.57 (n)
  • 85.99 (a)
PRSS12 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRSS12 36
  • 87.89 (n)
  • 87.65 (a)
PRSS12 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prss12 36
  • 85.28 (n)
  • 86.99 (a)
Prss12 16
Prss12 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRSS12 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS12 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prss12 36
  • 84.29 (n)
  • 86.33 (a)
chicken
(Gallus gallus)
Aves PRSS12 36
  • 78.64 (n)
  • 84.44 (a)
PRSS12 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRSS12 37
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prss12 36
  • 70 (n)
  • 70.87 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC566809 36
  • 62.77 (n)
  • 63.51 (a)
prss12 37
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lox 37
  • 16 (a)
ManyToMany
lox2 37
  • 13 (a)
ManyToMany
CG11836 38
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 10 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PRSS12 (if available)
TreeFam:
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
PRSS12
Human Gene Mutation Database (HGMD)
PRSS12

Disorders for PRSS12 Gene

(1) OMIM Diseases for PRSS12 Gene (606709)

UniProtKB/Swiss-Prot

NETR_HUMAN
  • 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)
PRSS12
Human Genome Epidemiology (HuGE) Navigator
PRSS12
genes like me logo Genes that share disorders with PRSS12: view

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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