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Aliases for PRSS56 Gene

Aliases for PRSS56 Gene

  • Protease, Serine, 56 2 3
  • MCOP6 3 6
  • Putative Serine Protease 56 3
  • Serine Protease 56 3
  • EC 3.4.21.- 4

External Ids for PRSS56 Gene

Summaries for PRSS56 Gene

Entrez Gene Summary for PRSS56 Gene

  • 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]

GeneCards Summary for PRSS56 Gene

PRSS56 (Protease, Serine, 56) is a Protein Coding gene. Diseases associated with PRSS56 include refractive error and microphthalmia, isolated 6. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ACR.

UniProtKB/Swiss-Prot for PRSS56 Gene

  • Serine protease required during eye development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRSS56 Gene

Genomics for PRSS56 Gene

Genomic Location for PRSS56 Gene

Start:
232,520,463 bp from pter
End:
232,525,716 bp from pter
Size:
5,254 bases
Orientation:
Plus strand

Genomic View for PRSS56 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRSS56 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS56 Gene

No data available for Regulatory Elements for PRSS56 Gene

Proteins for PRSS56 Gene

  • Protein details for PRSS56 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CW18-PRS56_HUMAN
    Recommended name:
    Serine protease 56
    Protein Accession:
    P0CW18
    Secondary Accessions:

    Protein attributes for PRSS56 Gene

    Size:
    603 amino acids
    Molecular mass:
    64597 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRSS56 Gene

Proteomics data for PRSS56 Gene at MOPED

Post-translational modifications for PRSS56 Gene

Other Protein References for PRSS56 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRSS56 Gene

Domains for PRSS56 Gene

Gene Families for PRSS56 Gene

HGNC:
  • PRSS :Serine peptidases / Serine peptidases

Protein Domains for PRSS56 Gene

UniProtKB/Swiss-Prot:

PRS56_HUMAN
Domain:
  • Contains 1 peptidase S1 domain.:
    • P0CW18
Family:
  • Belongs to the peptidase S1 family.:
    • P0CW18
genes like me logo Genes that share domains with PRSS56: view

Function for PRSS56 Gene

Molecular function for PRSS56 Gene

UniProtKB/Swiss-Prot Function: Serine protease required during eye development.

Enzyme Numbers (IUBMB) for PRSS56 Gene

Gene Ontology (GO) - Molecular Function for PRSS56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity ISS --
genes like me logo Genes that share ontologies with PRSS56: view

Phenotypes for PRSS56 Gene

genes like me logo Genes that share phenotypes with PRSS56: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PRSS56 Gene

Localization for PRSS56 Gene

Gene Ontology (GO) - Cellular Components for PRSS56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
genes like me logo Genes that share ontologies with PRSS56: view

Pathways for PRSS56 Gene

SuperPathways for PRSS56 Gene

No Data Available

Interacting Proteins for PRSS56 Gene

Gene Ontology (GO) - Biological Process for PRSS56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis ISS --
GO:0043010 camera-type eye development IMP 21397065
genes like me logo Genes that share ontologies with PRSS56: view

No data available for Pathways by source for PRSS56 Gene

Transcripts for PRSS56 Gene

mRNA/cDNA for PRSS56 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRSS56 Gene

Protease, serine, 56:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS56 Gene

No ASD Table

Relevant External Links for PRSS56 Gene

GeneLoc Exon Structure for
PRSS56
ECgene alternative splicing isoforms for
PRSS56

Expression for PRSS56 Gene

mRNA expression in normal human tissues for PRSS56 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRSS56 Gene

This gene is overexpressed in Muscle - Skeletal (13.0), Brain - Hypothalamus (10.0), and Testis (7.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PRSS56 Gene

SOURCE GeneReport for Unigene cluster for PRSS56 Gene Hs.570310

mRNA Expression by UniProt/SwissProt for PRSS56 Gene

P0CW18-PRS56_HUMAN
Tissue specificity: Expressed neural retina, cornea, sclera and optic nerve.
genes like me logo Genes that share expressions with PRSS56: view

Orthologs for PRSS56 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS56 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRSS56 36
  • 99.28 (n)
  • 99.34 (a)
cow
(Bos Taurus)
Mammalia PRSS56 36
  • 86.35 (n)
  • 85.34 (a)
dog
(Canis familiaris)
Mammalia PRSS56 36
  • 86.43 (n)
  • 86.2 (a)
PRSS56 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prss56 36
  • 80.31 (n)
  • 81.16 (a)
Prss56 16
Prss56 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRSS56 37
  • 35 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS56 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prss56 36
  • 79.64 (n)
  • 79.01 (a)
chicken
(Gallus gallus)
Aves PRSS56 36
  • 62.33 (n)
  • 54.41 (a)
PRSS56 37
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRSS56 37
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prss56 36
  • 55.87 (n)
  • 51.3 (a)
zebrafish
(Danio rerio)
Actinopterygii PRSS56 37
  • 31 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004571 36
  • 51.93 (n)
  • 44.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11668 37
  • 18 (a)
ManyToMany
CG11670 37
  • 17 (a)
ManyToMany
CG11836 37
  • 31 (a)
ManyToMany
CG11841 37
  • 22 (a)
ManyToMany
CG11842 37
  • 22 (a)
ManyToMany
CG11843 37
  • 24 (a)
ManyToMany
CG1299 37
  • 18 (a)
ManyToMany
CG14642 37
  • 19 (a)
ManyToMany
CG14892 37
  • 19 (a)
ManyToMany
CG18735 37
  • 30 (a)
ManyToMany
CG31728 37
  • 14 (a)
ManyToMany
CG32260 37
  • 16 (a)
ManyToMany
CG3355 37
  • 29 (a)
ManyToMany
CG34350 37
  • 10 (a)
ManyToMany
CG3700 37
  • 21 (a)
ManyToMany
CG4386 37
  • 26 (a)
ManyToMany
CG4613 37
  • 24 (a)
ManyToMany
CG4914 36
  • 49.36 (n)
  • 41.7 (a)
CG4914 37
  • 28 (a)
ManyToMany
CG4927 37
  • 22 (a)
ManyToMany
CG6361 37
  • 12 (a)
ManyToMany
CG6865 37
  • 28 (a)
ManyToMany
CG7432 37
  • 14 (a)
ManyToMany
CG8172 37
  • 17 (a)
ManyToMany
CG8213 37
  • 6 (a)
ManyToMany
CG9294 37
  • 26 (a)
ManyToMany
CG9372 37
  • 22 (a)
ManyToMany
psh 37
  • 18 (a)
ManyToMany
Sb 37
  • 12 (a)
ManyToMany
snk 37
  • 18 (a)
ManyToMany
spirit 37
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7246 37
  • 11 (a)
ManyToMany
Species with no ortholog for PRSS56:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRSS56 Gene

ENSEMBL:
Gene Tree for PRSS56 (if available)
TreeFam:
Gene Tree for PRSS56 (if available)

Paralogs for PRSS56 Gene

Paralogs for PRSS56 Gene

genes like me logo Genes that share paralogs with PRSS56: view

Variants for PRSS56 Gene

Sequence variations from dbSNP and Humsavar for PRSS56 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs733602 -- 232,523,601(-) GACGG(A/G)GCATT intron-variant
rs733603 -- 232,522,925(+) AGTGT(A/G)GGGAG intron-variant
rs1550094 -- 232,520,686(-) CAGGG(C/T)GCTGG missense, reference
rs2573204 -- 232,522,259(-) CAGCA(A/G)AGACC intron-variant
rs2573210 -- 232,520,315(-) CAAGA(C/T)TGGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PRSS56 Gene

Variant ID Type Subtype PubMed ID
nsv522450 CNV Loss 19592680
nsv821918 CNV Gain 20364138
nsv875977 CNV Loss 21882294
nsv875998 CNV Loss 21882294
nsv527789 CNV Loss 19592680
nsv876000 CNV Gain 21882294
dgv4453n71 CNV Loss 21882294
dgv4454n71 CNV Loss 21882294
nsv3211 CNV Insertion 18451855

Relevant External Links for PRSS56 Gene

HapMap Linkage Disequilibrium report
PRSS56
Human Gene Mutation Database (HGMD)
PRSS56

Disorders for PRSS56 Gene

(1) OMIM Diseases for PRSS56 Gene (613858)

UniProtKB/Swiss-Prot

PRS56_HUMAN
  • Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]: A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone. {ECO:0000269 PubMed:21397065, ECO:0000269 PubMed:21532570, ECO:0000269 PubMed:21850159}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with PRSS56: view

Publications for PRSS56 Gene

  1. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. (PMID: 21397065) Gal A. … Rosenberg T. (Am. J. Hum. Genet. 2011) 2 3 4
  2. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. (PMID: 21532570) Nair K.S. … John S.W. (Nat. Genet. 2011) 2 3 4
  3. Mutations in a novel serine protease PRSS56 in families with nanophthalmos. (PMID: 21850159) Orr A. … Samuels M.E. (Mol. Vis. 2011) 3 4
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 4
  5. Global identification of modular cullin-RING ligase substrates. (PMID: 21963094) Emanuele M.J. … Elledge S.J. (Cell 2011) 3

Products for PRSS56 Gene

Sources for PRSS56 Gene

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