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PRSS56 serine protease 56 [ Homo sapiens (human) ]

Gene ID: 646960, updated on 13-May-2022

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; AllianceGenome:HGNC:39433
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
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Genomic context

See PRSS56 in Genome Data Viewer
Location:
2q37.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232520388..232525716)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (233007207..233012535)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233385098..233390426)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene endothelin converting enzyme like 1 Neighboring gene uncharacterized LOC124906124 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Isolated microphthalmia 6
MedGen: C3150757 OMIM: 613517 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

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

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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_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 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_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047445431.1XP_047301387.1  serine protease 56 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    233007207..233012535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)