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PRSS1 serine protease 1 [ Homo sapiens (human) ]

Gene ID: 5644, updated on 6-Sep-2022

Summary

Official Symbol
PRSS1provided by HGNC
Official Full Name
serine protease 1provided by HGNC
Primary source
HGNC:HGNC:9475
See related
Ensembl:ENSG00000204983 MIM:276000; AllianceGenome:HGNC:9475
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
TRP1; TRY1; TRY4; TRYP1
Summary
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward pancreas (RPKM 45120.4) See more
Orthologs
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Genomic context

See PRSS1 in Genome Data Viewer
Location:
7q34
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142749472..142753072)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144105191..144108791)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142457323..142460923)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene T cell receptor beta locus Neighboring gene piggyBac transposable element derived 4 pseudogene 1 Neighboring gene uncharacterized LOC124901763 Neighboring gene T cell receptor beta variable 29-1 Neighboring gene PRSS3 pseudogene 1

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?

Phenotypes

Associated conditions

Description Tests
Hereditary pancreatitis Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-10-29)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-10-29)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cleavage of HIV-1 gp120 with trypsin at residue 432 destroys CD4 binding PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ57296, MGC120175, MGC149362, DKFZp779A0837

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables serine-type endopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in digestion IEA
Inferred from Electronic Annotation
more info
 
involved_in extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
serine protease 1
Names
TCR V beta 4.1
anionic trypsin I
beta-trypsin
cationic trypsinogen
digestive zymogen
nonfunctional trypsin 1
pretrypsinogen I
protease, serine 1
trypsinogen 1
trypsinogen A
NP_002760.1

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_001333.2 

    Range
    583136..586744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_008307.3 RefSeqGene

    Range
    4989..8589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1013

mRNA and Protein(s)

  1. NM_002769.5NP_002760.1  serine protease 1 preproprotein

    See identical proteins and their annotated locations for NP_002760.1

    Status: REVIEWED

    Source sequence(s)
    BC128226, BP321999, CA948204
    Consensus CDS
    CCDS5872.1
    UniProtKB/Swiss-Prot
    P07477, Q9HAN7
    Related
    ENSP00000308720.7, ENST00000311737.12
    Conserved Domains (2) summary
    smart00020
    Location:23239
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:24242
    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 ...

RNA

  1. NR_172947.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC244472
  2. NR_172948.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC244472
  3. NR_172949.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC244472
    Related
    ENST00000492062.1
  4. NR_172950.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC244472
  5. NR_172951.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC244472

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    142749472..142753072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    752069..755669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    144105191..144108791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)