PRSS56
Serine protease 56
Also known as: PRS56_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P0CW18
- Gene
- PRSS56
- Ensembl
- ENSG00000237412
- Chromosome
- 2
- Canonical length
- 603 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
603 residues, UniProt reviewed canonical sequence.
>P0CW18|PRSS56
1 MLLAVLLLLP LPSSWFAHGH PLYTRLPPSA LQVLSAQGTQ ALQAAQRSAQ WAINRVAMEI
61 QHRSHECRGS GRPRPQALLQ DPPEPGPCGE RRPSTANVTR AHGRIVGGSA APPGAWPWLV
121 RLQLGGQPLC GGVLVAASWV LTAAHCFVGA PNELLWTVTL AEGSRGEQAE EVPVNRILPH
181 PKFDPRTFHN DLALVQLWTP VSPGGSARPV CLPQEPQEPP AGTACAIAGW GALFEDGPEA
241 EAVREARVPL LSTDTCRRAL GPGLRPSTML CAGYLAGGVD SCQGDSGGPL TCSEPGPRPR
301 EVLFGVTSWG DGCGEPGKPG VYTRVAVFKD WLQEQMSASS SREPSCRELL AWDPPQELQA
361 DAARLCAFYA RLCPGSQGAC ARLAHQQCLQ RRRRCELRSL AHTLLGLLRN AQELLGPRPG
421 LRRLAPALAL PAPALRESPL HPARELRLHS GSRAAGTRFP KRRPEPRGEA NGCPGLEPLR
481 QKLAALQGAH AWILQVPSEH LAMNFHEVLA DLGSKTLTGL FRAWVRAGLG GRHVAFSGLV
541 GLEPATLARS LPRLLVQALQ AFRVAALAEG EPEGPWMDVG QGPGLERKGH HPLNPQVPPA
601 RQPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PRSS56 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 9.1 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 9.1 nTPM
- retina: 4.9 nTPM
- hypothalamus: 2.4 nTPM
- testis: 1.8 nTPM
- basal ganglia: 1 nTPM
- midbrain: 1 nTPM
Single-cell type
- müller glia: 50 nCPM
- early spermatids: 37 nCPM
- epididymal efferent duct ciliated cells: 8 nCPM
- other brain neurons: 6.1 nCPM
- myonuclei: 4.2 nCPM
- late spermatids: 3.9 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 9.6 nTPM
- hypothalamus: 6.9 nTPM
- pons: 6.6 nTPM
- medulla oblongata: 6.1 nTPM
- cerebellum: 3.7 nTPM
- thalamus: 3.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PRSS56.
Disease | AllUniProt
Conditions PRSS56 is implicated in, by any mechanism.
- Microphthalmia, isolated, 6 (MCOP6) MIM:613517
Disease | GeneticClinVar
24 pathogenic / likely-pathogenic of 265 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Isolated microphthalmia 6
- Nanophthalmia
- PRSS56-related disorder
- Ovarian serous cystadenocarcinoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.7
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.05
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PRSS56 as an antibody target. Whether an autoantibody or antibody against PRSS56 could matter depends on whether native PRSS56 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PRSS56 is annotated as secreted, so native PRSS56 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label PRSS56 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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