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PRSS12 serine protease 12 [ Homo sapiens (human) ]

Gene ID: 8492, updated on 12-Oct-2019

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
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

Genomic context

See PRSS12 in Genome Data Viewer
Location:
4q26
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (118280038..118353042, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (119201193..119274053, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene N-deacetylase and N-sulfotransferase 3 Neighboring gene uncharacterized LOC105377392 Neighboring gene small nucleolar RNA, H/ACA box 24 Neighboring gene small nucleolar RNA host gene 8 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

Homology

Clone Names

  • MGC12722

Gene Ontology Provided by GOA

Function Evidence Code Pubs
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
zymogen activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic cleft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    UniProtKB/TrEMBL
    Q96I80
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    118280038..118353042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532387.2XP_011530689.1  neurotrypsin isoform X1

    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_005263318.4XP_005263375.1  neurotrypsin isoform X2

    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
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