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    PRSS12 serine protease 12 [ Homo sapiens (human) ]

    Gene ID: 8492, updated on 3-Apr-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRSS12 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_003619.4NP_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:630869
      Tryp_SPc; Trypsin-like serine protease
      smart00130
      Location:99164
      KR; Kringle domain
      smart00202
      Location:280380
      SR; Scavenger receptor Cys-rich
      cd00190
      Location:631872
      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:285380
      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_011532387.3XP_011530689.1  neurotrypsin isoform X1

      UniProtKB/TrEMBL
      Q96I80
      Conserved Domains (3) summary
      smart00130
      Location:99164
      KR; Kringle domain
      smart00202
      Location:280380
      SR; Scavenger receptor Cys-rich
      pfam00530
      Location:285380
      SRCR; Scavenger receptor cysteine-rich domain
    2. XM_005263318.5XP_005263375.1  neurotrypsin isoform X2

      UniProtKB/TrEMBL
      Q96I80
      Conserved Domains (3) summary
      smart00130
      Location:99164
      KR; Kringle domain
      smart00202
      Location:280380
      SR; Scavenger receptor Cys-rich
      pfam00530
      Location:285380
      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_054351128.1XP_054207103.1  neurotrypsin isoform X1

    2. XM_054351129.1XP_054207104.1  neurotrypsin isoform X2