This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, br... See more...

Aliases for WFDC1 Gene

Aliases for WFDC1 Gene

  • WAP Four-Disulfide Core Domain 1 2 3 5
  • PS20 2 3 4
  • WAP Four-Disulfide Core Domain Protein 1 3 4
  • Prostate Stromal Protein Ps20 3 4
  • Ps20 Growth Inhibitor 3 4
  • WAP Four-Disulfide Core Domain 1 Homolog 3
  • WFDC1 5

External Ids for WFDC1 Gene

Previous GeneCards Identifiers for WFDC1 Gene

  • GC16P075178
  • GC16P085295
  • GC16P084067
  • GC16P084108
  • GC16P082885
  • GC16P070082

Summaries for WFDC1 Gene

Entrez Gene Summary for WFDC1 Gene

  • This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for WFDC1 Gene

WFDC1 (WAP Four-Disulfide Core Domain 1) is a Protein Coding gene. Diseases associated with WFDC1 include Corneal Staphyloma. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity.

UniProtKB/Swiss-Prot Summary for WFDC1 Gene

Gene Wiki entry for WFDC1 Gene

Additional gene information for WFDC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WFDC1 Gene

Genomics for WFDC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for WFDC1 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
GH16J084294 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +3.4 3438 3.4 MNT ZNF316 NR2F2 POLR2A MAFK EZH2 PKNOX1 ENSG00000260530 WFDC1 ATP2C2
GH16J084266 Enhancer 1 Ensembl ENCODE 12.5 -25.6 -25592 0.7 SP1 CREB1 TFE3 SIX5 FOS ZNF143 PKNOX1 RXRB REST NR2C1 WFDC1 KCNG4 NECAB2 RF00001-139 RNA5SP433
GH16J084374 Enhancer 0.7 Ensembl dbSUPER 11 +81.5 81468 1.8 CREB1 ATF7 JUND RFX1 ATF2 GATA3 ATF3 FOS JUN ATF1 ATP2C2 WFDC1 KCNG4 piR-38351-208 MEAK7
GH16J084322 Enhancer 0.6 Ensembl 12 +31.7 31668 1.8 ZBTB33 YBX1 ZNF776 ZNF311 HES1 ZNF316 MAFF E4F1 MAFK ZBTB17 WFDC1 ATP2C2 KCNG4 TAF1C piR-48759-114 ENSG00000260530
GH16J085219 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 5.5 +929.0 928962 3.6 HNRNPL TEAD4 PRDM10 ZNF692 PRDM1 ZIC2 ZSCAN4 PATZ1 SP1 ZNF600 WFDC1 ENSG00000287787 piR-50307 GSE1 GINS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WFDC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WFDC1

Top Transcription factor binding sites by QIAGEN in the WFDC1 gene promoter:
  • ATF6
  • C/EBPalpha
  • HSF1 (long)
  • HSF1short
  • HSF2
  • MyoD
  • NF-1
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for WFDC1 Gene

Genomic Locations for WFDC1 Gene
chr16:84,292,233-84,329,850
(GRCh38/hg38)
Size:
37,618 bases
Orientation:
Plus strand
chr16:84,328,252-84,363,450
(GRCh37/hg19)
Size:
35,199 bases
Orientation:
Plus strand

Genomic View for WFDC1 Gene

Genes around WFDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WFDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WFDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WFDC1 Gene

Proteins for WFDC1 Gene

  • Protein details for WFDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC57-WFDC1_HUMAN
    Recommended name:
    WAP four-disulfide core domain protein 1
    Protein Accession:
    Q9HC57
    Secondary Accessions:
    • D3DUL7
    • Q8NC27
    • Q9HAU1

    Protein attributes for WFDC1 Gene

    Size:
    220 amino acids
    Molecular mass:
    23977 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG15263.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for WFDC1 Gene

Post-translational modifications for WFDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WFDC1 Gene

No data available for DME Specific Peptides for WFDC1 Gene

Domains & Families for WFDC1 Gene

Gene Families for WFDC1 Gene

Protein Domains for WFDC1 Gene

InterPro:
Blocks:
  • 4-disulphide core signature
ProtoNet:

Suggested Antigen Peptide Sequences for WFDC1 Gene

GenScript: Design optimal peptide antigens:
  • ps20 growth inhibitor (WFDC1_HUMAN)
genes like me logo Genes that share domains with WFDC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WFDC1 Gene

Function for WFDC1 Gene

Molecular function for WFDC1 Gene

UniProtKB/Swiss-Prot Function:
Has growth inhibitory activity.

Phenotypes From GWAS Catalog for WFDC1 Gene

Gene Ontology (GO) - Molecular Function for WFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with WFDC1: view
genes like me logo Genes that share phenotypes with WFDC1: view

Animal Models for WFDC1 Gene

MGI Knock Outs for WFDC1:
  • Wfdc1 Wfdc1<tm1Bcm>
  • Wfdc1 Wfdc1<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for WFDC1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WFDC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for WFDC1 Gene

Localization for WFDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WFDC1 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 WFDC1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for WFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,NAS 10967136
genes like me logo Genes that share ontologies with WFDC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WFDC1 Gene

Pathways & Interactions for WFDC1 Gene

PathCards logo

SuperPathways for WFDC1 Gene

No Data Available

Interacting Proteins for WFDC1 Gene

Gene Ontology (GO) - Biological Process for WFDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IBA 21873635
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030308 negative regulation of cell growth NAS 10967136
GO:0032355 response to estradiol IEA --
genes like me logo Genes that share ontologies with WFDC1: view

No data available for Pathways by source and SIGNOR curated interactions for WFDC1 Gene

Drugs & Compounds for WFDC1 Gene

No Compound Related Data Available

Transcripts for WFDC1 Gene

mRNA/cDNA for WFDC1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WFDC1

Alternative Splicing Database (ASD) splice patterns (SP) for WFDC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2:
SP3:

Relevant External Links for WFDC1 Gene

GeneLoc Exon Structure for
WFDC1

Expression for WFDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WFDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WFDC1 Gene

This gene is overexpressed in Artery - Coronary (x5.8), Artery - Tibial (x5.4), and Prostate (x4.8).

Protein differential expression in normal tissues from HIPED for WFDC1 Gene

This gene is overexpressed in Heart (43.0) and Peripheral blood mononuclear cells (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for WFDC1 Gene



Protein tissue co-expression partners for WFDC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WFDC1

SOURCE GeneReport for Unigene cluster for WFDC1 Gene:

Hs.36688

Evidence on tissue expression from TISSUES for WFDC1 Gene

  • Kidney(4.4)
  • Intestine(4.4)
  • Stomach(4.2)
  • Skin(2.4)
  • Nervous system(2)
  • Eye(2)
genes like me logo Genes that share expression patterns with WFDC1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WFDC1 Gene

Orthologs for WFDC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for WFDC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia WFDC1 30 31
  • 99.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia WFDC1 30 31
  • 86.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WFDC1 30
  • 83.72 (n)
Mouse
(Mus musculus)
Mammalia Wfdc1 30 17 31
  • 79.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia WFDC1 31
  • 79 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wfdc1 30
  • 78.41 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia WFDC1 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves WFDC1 31
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WFDC1 31
  • 56 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii wfdc1 31
  • 55 (a)
OneToOne
Species where no ortholog for WFDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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)

Evolution for WFDC1 Gene

ENSEMBL:
Gene Tree for WFDC1 (if available)
TreeFam:
Gene Tree for WFDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WFDC1: view image

Paralogs for WFDC1 Gene

No data available for Paralogs for WFDC1 Gene

Variants for WFDC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WFDC1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
715685 Benign: not provided 84,324,442(+) C/G MISSENSE_VARIANT
718633 Likely Benign: not provided 84,294,984(+) G/A MISSENSE_VARIANT
719534 Benign: not provided 84,319,550(+) G/A MISSENSE_VARIANT
736083 Likely Benign: not provided 84,324,433(+) C/T NONSENSE
736832 Likely Benign: not provided 84,312,984(+) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for WFDC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for WFDC1 Gene

Variant ID Type Subtype PubMed ID
dgv1372n106 CNV deletion 24896259
dgv547e214 CNV loss 21293372
dgv548e214 CNV gain 21293372
esv2714827 CNV deletion 23290073
esv2761930 CNV gain 21179565
esv3639414 CNV loss 21293372
nsv483044 CNV gain 15286789
nsv523416 CNV loss 19592680
nsv573425 CNV loss 21841781
nsv833310 CNV loss 17160897

Variation tolerance for WFDC1 Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.66; 56.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WFDC1 Gene

Human Gene Mutation Database (HGMD)
WFDC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WFDC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WFDC1 Gene

Disorders for WFDC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WFDC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
corneal staphyloma
- elite association - COSMIC cancer census association via MalaCards
Search WFDC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WFDC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with WFDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WFDC1 Gene

Publications for WFDC1 Gene

  1. The WFDC1 gene encoding ps20 localizes to 16q24, a region of LOH in multiple cancers. (PMID: 10967136) Larsen M … Rowley DR (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 2 3 4 23
  2. The WFDC1 gene: role in wound response and tissue homoeostasis. (PMID: 21936833) Ressler SJ … Rowley DR (Biochemical Society transactions 2011) 2 3
  3. Supervised machine learning and logistic regression identifies novel epistatic risk factors with PTPN22 for rheumatoid arthritis. (PMID: 20090771) Briggs FB … Barcellos LF (Genes and immunity 2010) 3 41
  4. Modulated expression of WFDC1 during carcinogenesis and cellular senescence. (PMID: 18842679) Madar S … Rotter V (Carcinogenesis 2009) 3 23
  5. WFDC1/ps20 is a novel innate immunomodulatory signature protein of human immunodeficiency virus (HIV)-permissive CD4+ CD45RO+ memory T cells that promotes infection by upregulating CD54 integrin expression and is elevated in HIV type 1 infection. (PMID: 17942534) Alvarez R … Vyakarnam A (Journal of virology 2008) 3 23

Products for WFDC1 Gene

Sources for WFDC1 Gene