Format

Send to:

Choose Destination

PRSS56 serine protease 56 [ Homo sapiens (human) ]

Gene ID: 646960, updated on 16-Mar-2021

Summary

Official Symbol
PRSS56provided by HGNC
Official Full Name
serine protease 56provided by HGNC
Primary source
HGNC:HGNC:39433
See related
Ensembl:ENSG00000237412 MIM:613858
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
MCOP6
Summary
This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]
Expression
Low expression observed in reference dataset See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PRSS56 in Genome Data Viewer
Location:
2q37.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (232520388..232525716)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233385098..233390426)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene alkaline phosphatase, intestinal Neighboring gene endothelin converting enzyme like 1 Neighboring gene cholinergic receptor nicotinic delta subunit Neighboring gene cholinergic receptor nicotinic gamma subunit Neighboring gene tigger transposable element derived 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
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
GeneReviews: Not available
Microphthalmia, isolated 6
MedGen: C3150757 OMIM: 613517 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of leukocyte chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
serine protease 56
Names
protease, serine 56
putative serine protease 56

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_031969.1 RefSeqGene

    Range
    4926..10254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195129.2NP_001182058.1  serine protease 56 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001182058.1

    Status: REVIEWED

    Source sequence(s)
    AC092165
    Consensus CDS
    CCDS74669.1
    UniProtKB/Swiss-Prot
    P0CW18
    Related
    ENSP00000479745.1, ENST00000617714.2
    Conserved Domains (2) summary
    smart00020
    Location:104331
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:105335
    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 ...
  2. NM_001369848.1NP_001356777.1  serine protease 56 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC092165
    Conserved Domains (1) summary
    cd00190
    Location:105335
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    232520388..232525716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center