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PRSS12 serine protease 12 [ Homo sapiens (human) ]

Gene ID: 8492, updated on 9-Dec-2024

Summary

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Official Symbol
PRSS12provided by HGNC
Official Full Name
serine protease 12provided by HGNC
Primary source
HGNC:HGNC:9477
See related
Ensembl:ENSG00000164099 MIM:606709; AllianceGenome:HGNC:9477
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRT1; BSSP3; BSSP-3
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]
Expression
Broad expression in testis (RPKM 7.3), gall bladder (RPKM 6.2) and 18 other tissues See more
Orthologs
mouse all
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Genomic context

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See PRSS12 in Genome Data Viewer
Location:
4q26
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (118280038..118353003, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (121585014..121657983, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (119201193..119274158, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377392 Neighboring gene uncharacterized LOC124900765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15649 Neighboring gene uncharacterized LOC124900766 Neighboring gene small nucleolar RNA, H/ACA box 24 Neighboring gene small nucleolar RNA host gene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:119273903-119274748 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:119318395-119319594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21846 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 5 Neighboring gene uncharacterized LOC105379403

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Assignment of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25-->q26 by in situ hybridization. Kozlov SV, et al. Cytogenet Cell Genet, 1999. PMID 10343120
  2. Cloning and structural analysis of leydin, a novel human serine protease expressed by the Leydig cells of the testis. Poorafshar M, et al. Eur J Biochem, 1999 Apr. PMID 10103056
  3. Cloning and sequencing of the cDNA encoding human neurotrypsin. Proba K, et al. Biochim Biophys Acta, 1998 Mar 9. PMID 9540828
  4. Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration. Pratt J, et al. Geroscience, 2023 Jun. PMID 36609795, Free PMC Article
  5. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Molinari F, et al. Science, 2002 Nov 29. PMID 12459588

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.
    Title: Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: 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.
  3. 4-base pair deletion in the neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation; findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function
    Title: Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual disability, autosomal recessive 1
MedGen: C1855304 OMIM: 249500 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC12722

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type peptidase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in presynapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synaptic cleft IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
neurotrypsin
Names
brain-specific serine protease 3
leydin
protease, serine 12
protease, serine, 12 (neurotrypsin, motopsin)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023350.1 RefSeqGene

    Range
    4765..77730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003619.4 → NP_003610.2  neurotrypsin precursor

    See identical proteins and their annotated locations for NP_003610.2

    Status: REVIEWED

    Source sequence(s)
    AC096762, AJ001531, BC007761, BG386264
    Consensus CDS
    CCDS3709.1
    UniProtKB/Swiss-Prot
    P56730, Q9UP16
    Related
    ENSP00000296498.3, ENST00000296498.3
    Conserved Domains (5) summary
    smart00020
    Location:630 → 869
    Tryp_SPc; Trypsin-like serine protease
    smart00130
    Location:99 → 164
    KR; Kringle domain
    smart00202
    Location:280 → 380
    SR; Scavenger receptor Cys-rich
    cd00190
    Location:631 → 872
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00530
    Location:285 → 380
    SRCR; Scavenger receptor cysteine-rich domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    118280038..118353003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532387.3 → XP_011530689.1  neurotrypsin isoform X1

    UniProtKB/TrEMBL
    Q96I80
    Conserved Domains (3) summary
    smart00130
    Location:99 → 164
    KR; Kringle domain
    smart00202
    Location:280 → 380
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:285 → 380
    SRCR; Scavenger receptor cysteine-rich domain

  2. XM_005263318.5 → XP_005263375.1  neurotrypsin isoform X2

    UniProtKB/TrEMBL
    Q96I80
    Conserved Domains (3) summary
    smart00130
    Location:99 → 164
    KR; Kringle domain
    smart00202
    Location:280 → 380
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:285 → 380
    SRCR; Scavenger receptor cysteine-rich domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    121585014..121657983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351128.1 → XP_054207103.1  neurotrypsin isoform X1

    UniProtKB/TrEMBL
    Q96I80

  2. XM_054351129.1 → XP_054207104.1  neurotrypsin isoform X2

    UniProtKB/TrEMBL
    Q96I80
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56730.2 GenPept UniProtKB/Swiss-Prot:P56730

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