This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] See more...

Aliases for PRSS54 Gene

Aliases for PRSS54 Gene

  • Serine Protease 54 2 3 5
  • Cancer/Testis Antigen 67 2 3 4
  • Plasma Kallikrein-Like Protein 4 3 4
  • Inactive Serine Protease 54 3 4
  • Protease, Serine 54 2 3
  • KLKBL4 3 4
  • CT67 3 4
  • Testis Tissue Sperm-Binding Protein Li 40a 3

External Ids for PRSS54 Gene

Previous GeneCards Identifiers for PRSS54 Gene

  • GC16M044182

Summaries for PRSS54 Gene

Entrez Gene Summary for PRSS54 Gene

  • This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GeneCards Summary for PRSS54 Gene

PRSS54 (Serine Protease 54) is a Protein Coding gene. Diseases associated with PRSS54 include Spherocytosis, Type 2 and Spherocytosis, Type 1. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is TMPRSS4.

Additional gene information for PRSS54 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRSS54 Gene

Genomics for PRSS54 Gene

GeneHancer (GH) Regulatory Elements for PRSS54 Gene

Promoters and enhancers for PRSS54 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J058294 Promoter 0.5 EPDnew 500.7 +0.0 23 0.1 BCOR RFX1 GINS3 PRSS54 lnc-GINS3-1 lnc-CSNK2A2-4
GH16J058264 Enhancer 1.4 FANTOM5 Ensembl ENCODE 16.2 +29.7 29654 2.4 NRF1 GTF2E2 JUND PHB2 FOS ZBTB11 AFF1 HES1 TOE1 MYC PRSS54 CCDC102A CNOT1 CCDC113 LOC105371293 piR-41448
GH16J058243 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.6 +50.9 50911 1.9 ZBTB40 SP1 EP300 ZIC2 JUND CTCF RELA MEF2C RCOR1 RAD21 CSNK2A2 PRSS54 LOC105371293 RF00017-2092 RN7SL645P lnc-CSNK2A2-1 CCDC113
GH16J058366 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.3 -71.2 -71154 2.4 ZNF639 ZNF10 AFF1 TRIM28 TOE1 MYC CREB1 ZNF316 ZNF184 CEBPG LOC101927556 GINS3 PRSS54 RNU6-1155P ENSG00000245768 SLC38A7 RF00026-400 RNU6-269P piR-50968-047 lnc-GINS3-1
GH16J058455 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.4 -161.5 -161454 2.6 TCF12 NCOR1 TCF7 TRIM28 SKI TEAD1 TBX3 NR2F2 FOXA2 CEBPB GINS3 PRSS54 lnc-CNOT1-5 NDRG4 LINC02137
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRSS54 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRSS54

Genomic Locations for PRSS54 Gene

Genomic Locations for PRSS54 Gene
chr16:58,279,997-58,295,047
(GRCh38/hg38)
Size:
15,051 bases
Orientation:
Minus strand
chr16:58,313,901-58,328,951
(GRCh37/hg19)
Size:
15,051 bases
Orientation:
Minus strand

Genomic View for PRSS54 Gene

Genes around PRSS54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS54 Gene

Proteins for PRSS54 Gene

  • Protein details for PRSS54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PEW0-PRS54_HUMAN
    Recommended name:
    Inactive serine protease 54
    Protein Accession:
    Q6PEW0
    Secondary Accessions:
    • Q96LN9
    • Q9NT77

    Protein attributes for PRSS54 Gene

    Size:
    395 amino acids
    Molecular mass:
    43832 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRSS54 Gene

Post-translational modifications for PRSS54 Gene

  • Glycosylation at Asn123 and Asn327

No data available for DME Specific Peptides for PRSS54 Gene

Domains & Families for PRSS54 Gene

Gene Families for PRSS54 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PRSS54 Gene

Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRSS54 Gene

GenScript: Design optimal peptide antigens:
  • Plasma kallikrein-like protein 4 (PRS54_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PEW0

UniProtKB/Swiss-Prot:

PRS54_HUMAN :
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
Family:
  • Belongs to the peptidase S1 family. Plasma kallikrein subfamily.
genes like me logo Genes that share domains with PRSS54: view

Function for PRSS54 Gene

Phenotypes From GWAS Catalog for PRSS54 Gene

Gene Ontology (GO) - Molecular Function for PRSS54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA 21873635
genes like me logo Genes that share ontologies with PRSS54: view
genes like me logo Genes that share phenotypes with PRSS54: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PRSS54

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRSS54 Gene

Localization for PRSS54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS54 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRSS54 gene
Compartment Confidence
plasma membrane 3
extracellular 3
cytosol 2
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for PRSS54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with PRSS54: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRSS54 Gene

Pathways & Interactions for PRSS54 Gene

PathCards logo

SuperPathways for PRSS54 Gene

No Data Available

Interacting Proteins for PRSS54 Gene

;

Gene Ontology (GO) - Biological Process for PRSS54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA 21873635
genes like me logo Genes that share ontologies with PRSS54: view

No data available for Pathways by source and SIGNOR curated interactions for PRSS54 Gene

Drugs & Compounds for PRSS54 Gene

No Compound Related Data Available

Transcripts for PRSS54 Gene

mRNA/cDNA for PRSS54 Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS54 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2:

Relevant External Links for PRSS54 Gene

GeneLoc Exon Structure for
PRSS54

Expression for PRSS54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRSS54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRSS54 Gene

This gene is overexpressed in Testis (x50.7).

Protein differential expression in normal tissues from HIPED for PRSS54 Gene

This gene is overexpressed in Testis (63.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRSS54 Gene



Protein tissue co-expression partners for PRSS54 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRSS54

SOURCE GeneReport for Unigene cluster for PRSS54 Gene:

Hs.411239
genes like me logo Genes that share expression patterns with PRSS54: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS54 Gene

Orthologs for PRSS54 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRSS54 31 30
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRSS54 31 30
  • 78.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRSS54 30
  • 77.17 (n)
KLKBL4 31
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prss54 17 31 30
  • 73.76 (n)
rat
(Rattus norvegicus)
Mammalia Prss54 30
  • 72.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS54 31
  • 42 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRSS54 31
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRSS54 31
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18478 31
  • 21 (a)
ManyToMany
CG31827 31
  • 21 (a)
ManyToMany
CG4259 31
  • 21 (a)
ManyToMany
CG14990 31
  • 19 (a)
ManyToMany
CG18557 31
  • 17 (a)
ManyToMany
CG9377 31
  • 17 (a)
ManyToMany
CG3117 31
  • 16 (a)
ManyToMany
CG18563 31
  • 16 (a)
ManyToMany
CG8586 31
  • 15 (a)
ManyToMany
CG8738 31
  • 14 (a)
ManyToMany
CG18477 31
  • 14 (a)
ManyToMany
CG5390 31
  • 14 (a)
ManyToMany
CG31780 31
  • 14 (a)
ManyToMany
CG13318 31
  • 14 (a)
ManyToMany
CG40160 31
  • 13 (a)
ManyToMany
CG6639 31
  • 12 (a)
ManyToMany
CG4793 31
  • 8 (a)
ManyToMany
scaf 31
  • 8 (a)
ManyToMany
CG4998 31
  • 5 (a)
ManyToMany
Species where no ortholog for PRSS54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PRSS54 Gene

ENSEMBL:
Gene Tree for PRSS54 (if available)
TreeFam:
Gene Tree for PRSS54 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRSS54: view image

Paralogs for PRSS54 Gene

Paralogs for PRSS54 Gene

genes like me logo Genes that share paralogs with PRSS54: view

Variants for PRSS54 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRSS54 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710089 Benign: not provided 58,284,658(-) G/C MISSENSE_VARIANT
rs1052276 - p.Val240Ile
rs2241414 - p.Thr295Ala
rs3815803 - p.Ser182Gly

Additional dbSNP identifiers (rs#s) for PRSS54 Gene

Structural Variations from Database of Genomic Variants (DGV) for PRSS54 Gene

Variant ID Type Subtype PubMed ID
esv3582254 CNV loss 25503493

Variation tolerance for PRSS54 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.55; 55.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRSS54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRSS54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS54 Gene

Disorders for PRSS54 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PRSS54 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 2
  • sph2
spherocytosis, type 1
  • sph1
omenn syndrome
  • os
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRSS54

genes like me logo Genes that share disorders with PRSS54: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRSS54 Gene

Publications for PRSS54 Gene

  1. Rapid evolution of cancer/testis genes on the X chromosome. (PMID: 17521433) Stevenson BJ … Jongeneel CV (BMC genomics 2007) 2 3 54
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 54
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54

Products for PRSS54 Gene

Sources for PRSS54 Gene