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    WFDC1 WAP four-disulfide core domain 1 [ Homo sapiens (human) ]

    Gene ID: 58189, updated on 27-Nov-2024

    Summary

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    Official Symbol
    WFDC1provided by HGNC
    Official Full Name
    WAP four-disulfide core domain 1provided by HGNC
    Primary source
    HGNC:HGNC:15466
    See related
    Ensembl:ENSG00000103175 MIM:605322; AllianceGenome:HGNC:15466
    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
    PS20
    Summary
    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]
    Expression
    Biased expression in placenta (RPKM 49.5), prostate (RPKM 33.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WFDC1 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84294878..84329844)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90352943..90396238)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84328484..84363450)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 433 Neighboring gene uncharacterized LOC124903734 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:84340158-84341357 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:84348057-84348215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84353071-84353592 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:84393612-84394811 Neighboring gene ATPase secretory pathway Ca2+ transporting 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84492707-84493206 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84494562-84495761 Neighboring gene ATP2C2 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:84512589-84513788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84516869-84517370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84537675-84538175 Neighboring gene MTOR associated protein, eak-7 homolog

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Molecular structure, gene expression and functional role of WFDC1 in angiogenesis and cancer. Zhu S, et al. Cell Biochem Funct, 2021 Jul. PMID 33615507
    2. Analysis of alterations of WFDC1, a new putative tumour suppressor gene, in hepatocellular carcinoma. Saffroy R, et al. Eur J Hum Genet, 2002 Apr. PMID 12032731
    3. Modulated expression of WFDC1 during carcinogenesis and cellular senescence. Madar S, et al. Carcinogenesis, 2009 Jan. PMID 18842679, Free PMC Article
    4. Expression and functional analysis of the WAP four disulfide core domain 1 gene in human melanoma. Liu S, et al. Clin Exp Metastasis, 2009. PMID 19488830
    5. WFDC1 expression identifies memory CD4 T-lymphocytes rendered vulnerable to cell-cell HIV-1 transfer by promoting intercellular adhesive junctions. Alvarez RA, et al. Retrovirology, 2011 May 5. PMID 21545747, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular structure, gene expression and functional role of WFDC1 in angiogenesis and cancer.
      Title: Molecular structure, gene expression and functional role of WFDC1 in angiogenesis and cancer.
    2. Phylogenetic, molecular evolution and structural analyses of the WFDC1/prostate stromal protein 20.
      Title: Phylogenetic, molecular evolution and structural analyses of the WFDC1/prostate stromal protein 20 (ps20).
    3. Prostrate stromal 20 overexpression upregulates expression of cyclooxygenase-2 (COX-2) in LNCaP and WPMY-1 cells, and induces expression of a growth-suppressive phenotype, which inhibits proliferation of PCa cells by ps20-expressing WPMY-1 conditioned media.
      Title: Expression of two WFDC1/ps20 isoforms in prostate stromal cells induces paracrine apoptosis through regulation of PTGS2/COX-2.
    4. HIV-1 virus transfer among primary CD4+ T-lymphocytes was promoted by ectopic ps20 expression or by exogenous addition of recombinant ps20.
      Title: WFDC1 expression identifies memory CD4 T-lymphocytes rendered vulnerable to cell-cell HIV-1 transfer by promoting intercellular adhesive junctions.
    5. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Supervised machine learning and logistic regression identifies novel epistatic risk factors with PTPN22 for rheumatoid arthritis.
    6. suggests that the tumor suppressive function of WFDC1 may be partially a result of up-regulated Dkk1 gene expression, which is known to be a potent inhibitor of the Wnt signaling pathway
      Title: Expression and functional analysis of the WAP four disulfide core domain 1 gene in human melanoma.
    7. data suggest an important role for WFDC1 in inhibiting proliferation of both tumors and senescent cells. Finally, we suggest that the downregulation of WFDC1 might serve as a biomarker for cellular transformation
      Title: Modulated expression of WFDC1 during carcinogenesis and cellular senescence.
    8. our data suggest an important role for WFDC1 in inhibiting proliferation of both tumors and senescent cells
      Title: Modulated expression of WFDC1 during carcinogenesis and cellular senescence.
    9. ps20 promoted HIV entry via fusion and augmented CD54 integrin expression
      Title: 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.
    10. results suggest a minor role, if any, of WFDC1 in hepatocarcinogenesis
      Title: Analysis of alterations of WFDC1, a new putative tumour suppressor gene, in hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    EBI GWAS Catalog

    Description
    Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of WAP four-disulfide core domain 1 (WFDC1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of wound healing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell growth IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WAP four-disulfide core domain protein 1
    Names
    WAP four-disulfide core domain 1 homolog
    prostate stromal protein ps20
    ps20 growth inhibitor

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001282466.2 → NP_001269395.1  WAP four-disulfide core domain protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001269395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK075061, BC029159, HY179606, W49668
      Consensus CDS
      CCDS10946.1
      UniProtKB/Swiss-Prot
      D3DUL7, Q8NC27, Q9HAU1, Q9HC57
      Related
      ENSP00000456920.1, ENST00000568638.1
      Conserved Domains (1) summary
      cl00156
      Location:82 → 108
      WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...

    2. NM_001282467.2 → NP_001269396.1  WAP four-disulfide core domain protein 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      BC029159, BQ670532, BQ671964, CD519223, HY179606, W49668
      UniProtKB/Swiss-Prot
      Q9HC57
      Conserved Domains (1) summary
      cl00156
      Location:82 → 108
      WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...

    3. NM_021197.4 → NP_067020.2  WAP four-disulfide core domain protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_067020.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      BC029159, HY179606, W49668
      Consensus CDS
      CCDS10946.1
      UniProtKB/Swiss-Prot
      D3DUL7, Q8NC27, Q9HAU1, Q9HC57
      Related
      ENSP00000219454.5, ENST00000219454.10
      Conserved Domains (1) summary
      cl00156
      Location:82 → 108
      WAP; whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      84294878..84329844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434411.1 → XP_047290367.1  WAP four-disulfide core domain protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      90352943..90396238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313569.1 → XP_054169544.1  WAP four-disulfide core domain protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DUL7, Q8NC27, Q9HAU1, Q9HC57

    2. XM_054313565.1 → XP_054169540.1  WAP four-disulfide core domain protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DUL7, Q8NC27, Q9HAU1, Q9HC57

    3. XM_054313566.1 → XP_054169541.1  WAP four-disulfide core domain protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DUL7, Q8NC27, Q9HAU1, Q9HC57

    4. XM_054313567.1 → XP_054169542.1  WAP four-disulfide core domain protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DUL7, Q8NC27, Q9HAU1, Q9HC57

    5. XM_054313568.1 → XP_054169543.1  WAP four-disulfide core domain protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DUL7, Q8NC27, Q9HAU1, Q9HC57
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HC57.2 GenPept UniProtKB/Swiss-Prot:Q9HC57

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