PRSS12 serine protease 12 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S597 (e-PCR)
- UniSTS:34855

SHGC-147288 (e-PCR)
- UniSTS:175722

SHGC-59624 (e-PCR)
- UniSTS:43190

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

NG_023350.1 RefSeqGene

Range

4765..77730

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

118280038..118353003 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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