PRSS56 serine protease 56 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (232520388..232525716)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (233007207..233012535)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (233385098..233390426)

Chromosome 2 - NC_000002.12 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?

Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Title: Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Title: The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.
Title: Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Title: Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Title: Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Title: The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
This is the first trio-based whole-genome sequencing (WGS), study for nanophthalmos, revealing the potential role of de novo mutations (DNMs) in MYRF and rare inherited genetic variants in PRSS56 and MFRP.
Title: Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
variations in PRSS56 were evaluated in patients with either primary angle-closure glaucoma (PACG) or high hyperopia.
Title: Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.
Idenification of a founder mutation in the PRSS56 gene in Tunisian families with posterior microphthalmia and nanophthalmia.
Title: Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.
Corneal diameter decreases with decreasing axial length, suggesting posterior microphthalmos and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes. In the Saudi population PRSS56 mutations are the major cause.
Title: Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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 EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
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
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
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

General protein information

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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

NG_031969.1 RefSeqGene

Range

4926..10254

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195129.2 → NP_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:104 → 331

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:105 → 335

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_001369848.1 → NP_001356777.1 serine protease 56 isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC092165

Conserved Domains (1) summary

cd00190
Location:105 → 335

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 ...