PRSS57 (serine protease 57)

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Gene Gene information from NCBI Gene database.
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Entrez ID 400668
Gene name Serine protease 57
Gene symbol PRSS57
Synonyms (NCBI Gene)
NSP4PRSSL1UNQ782
Chromosome 19
Chromosome location 19p13.3
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 neut
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IDA 22474388
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UWY2
Protein name Serine protease 57 (EC 3.4.21.-) (Neutrophil serine protease 4) (NSP4) (Serine protease 1-like protein 1)
Protein function Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428). {ECO:0000269|PubMed:2247438
PDB 4Q7X , 4Q7Y , 4Q7Z , 4Q80
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 34 → 258 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Detected in peripheral blood neutrophil granulocytes, but not in other types of leukocytes. Detected in neutrophils and neutrophil precursors in bone marrow (at protein level) (PubMed:22474388, PubMed:23904161). Detected in myeloblasts
Sequence 
MGLGLRGWGRPLLTVATALMLPVKPPAGSWGAQIIGGHEVTPHSRPYMASVRFGGQHHCG
GFLLRARWVVSAAHCFSHRDLRTGLVVLGAHVLSTAEPTQQVFGIDALTTHPDYHPMTHA
NDICLLRLNGSAVLGPAVGLLRPPGRRARPPTAGTRCRVAGWGFVSDFEELPPGLMEAKV
RVLDPDVCNSSWKGHLTLTMLCTRSGDSHRRGFCSADSGGPLVCRNRAHGLVSFSGLWCG
DPKTPDVYTQVSAFVAWIWDVVRRSSPQPGPLPGTTRPPGEAA
Sequence length 283
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Long QT syndrome Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Gastroenteritis Gastroenteritis BEFREE 16571797, 22078944, 23478638
★★★★★
★☆☆☆☆
Found in Text Mining only
Gastrointestinal Diseases Gastrointestinal Diseases BEFREE 19505846
★★★★★
★☆☆☆☆
Found in Text Mining only
Rhabdomyosarcoma Rhabdomyosarcoma BEFREE 31613205
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for PRSS57.

No additional diseases found yet through genes similar to PRSS57.