PRSS57 serine protease 57 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRSS57provided by HGNC
Official Full Name: serine protease 57provided by HGNC
Primary source: HGNC:HGNC:31397
See related: Ensembl:ENSG00000185198 AllianceGenome:HGNC:31397
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: NSP4; PRSSL1; UNQ782
Summary: This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]
Expression: Restricted expression toward bone marrow (RPKM 54.0) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (685546..695452, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (639634..649468, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (685546..695452, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

The NSP4 T492I mutation increases SARS-CoV-2 infectivity by altering non-structural protein cleavage.
Title: The NSP4 T492I mutation increases SARS-CoV-2 infectivity by altering non-structural protein cleavage.
Structural insights in to substrate recognition by the trypsin-fold protease NSP4.
Title: Structures of neutrophil serine protease 4 reveal an unusual mechanism of substrate recognition by a trypsin-fold protease.
cathepsin C was identified as the activator of NSP4 in vivo, as cathepsin C deficiency resulted in a complete absence of NSP4 in a Papillon-Lefevre patient
Title: NSP4 is stored in azurophil granules and released by activated neutrophils as active endoprotease with restricted specificity.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables serine-type peptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule lumen	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serine protease 57

Names: neutrophil serine protease 4; protease, serine 57; serine protease 1-like protein 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

NG_051189.2 RefSeqGene

Range

5000..14906

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001308209.2 → NP_001295138.2 serine protease 57 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC004156, AC112708

Consensus CDS

CCDS77203.1

UniProtKB/TrEMBL

A0A0A0MR61, B7ZMF6

Related

ENSP00000327386.6, ENST00000329267.9

Conserved Domains (1) summary

cd00190
Location:33 → 257

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 ...
NM_214710.5 → NP_999875.2 serine protease 57 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC004156, AC112708

Consensus CDS

CCDS12041.1

UniProtKB/Swiss-Prot

B2RNW8, Q6UWY2

UniProtKB/TrEMBL

B7ZMF6

Related

ENSP00000482358.1, ENST00000613411.4

Conserved Domains (1) summary

cd00190
Location:34 → 258

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 ...