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    PRSS12 serine protease 12 [ Homo sapiens (human) ]

    Gene ID: 8492, updated on 3-Apr-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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    Location:
    4q26
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (118280038..118353003, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (121585014..121657983, complement)
    105.20220307 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. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Molinari F, et al. Science, 2002 Nov 29. PMID 12459588
    5. Neurotrypsin, a novel multidomain serine protease expressed in the nervous system. Gschwend TP, et al. Mol Cell Neurosci, 1997. PMID 9245503

    See all (11) 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    involved_in zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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 plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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_2023_10

    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

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

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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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