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    WFDC5 WAP four-disulfide core domain 5 [ Homo sapiens (human) ]

    Gene ID: 149708, updated on 27-Nov-2024

    Summary

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    Official Symbol
    WFDC5provided by HGNC
    Official Full Name
    WAP four-disulfide core domain 5provided by HGNC
    Primary source
    HGNC:HGNC:20477
    See related
    Ensembl:ENSG00000175121 MIM:605161; AllianceGenome:HGNC:20477
    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
    PRG5; WAP1; dJ211D12.5
    Summary
    This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward skin (RPKM 102.0) See more
    Orthologs
    all
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    Genomic context

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    See WFDC5 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45109463..45116319, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46845367..46852223, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43738104..43744960, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12953 Neighboring gene serine/threonine kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12954 Neighboring gene potassium voltage-gated channel modifier subfamily S member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43743251-43743752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43743753-43744252 Neighboring gene uncharacterized LOC101929863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17945 Neighboring gene WAP four-disulfide core domain 12

    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. Analysis of the promoter of mutated human whey acidic protein (WAP) gene. Nukumi N, et al. J Reprod Dev, 2006 Apr. PMID 16462094
    2. The C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in the JEG-3 cells. Mukhopadhyay SS, et al. Biochem Biophys Res Commun, 2007 Jul 6. PMID 17511965, Free PMC Article
    3. The whey acidic protein family: a new signature motif and three-dimensional structure by comparative modeling. Ranganathan S, et al. J Mol Graph Model, 1999 Apr. PMID 10680116
    4. Cohesin promotes the repair of ionizing radiation-induced DNA double-strand breaks in replicated chromatin. Bauerschmidt C, et al. Nucleic Acids Res, 2010 Jan. PMID 19906707, Free PMC Article
    5. Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene. Horikoshi N, et al. Biochem Biophys Res Commun, 1999 Aug 11. PMID 10441517

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in tumor cells
      Title: The C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in the JEG-3 cells.
    2. analysis of promoter of mutated human whey acidic protein (WAP) gene
      Title: Analysis of the promoter of mutated human whey acidic protein (WAP) gene.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in antibacterial humoral response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response 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
    		  

    General protein information

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    Preferred Names
    WAP four-disulfide core domain protein 5
    Names
    p53-responsive gene 5 protein
    protease inhibitor WAP1
    putative protease inhibitor WAP1

    NCBI Reference Sequences (RefSeq)

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    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_001395506.1 → NP_001382435.1  WAP four-disulfide core domain protein 5 precursor

      Status: REVIEWED

      Source sequence(s)
      Z93016
      Consensus CDS
      CCDS33475.1
      Conserved Domains (1) summary
      cl00156
      Location:62 → 120
      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_145652.4 → NP_663627.1  WAP four-disulfide core domain protein 5 precursor

      See identical proteins and their annotated locations for NP_663627.1

      Status: REVIEWED

      Source sequence(s)
      AY358822, BC039173, Z93016
      Consensus CDS
      CCDS33475.1
      UniProtKB/Swiss-Prot
      Q8TCV5
      Related
      ENSP00000361875.4, ENST00000372789.6
      Conserved Domains (1) summary
      cl00156
      Location:62 → 120
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45109463..45116319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528601.2 → XP_011526903.1  WAP four-disulfide core domain protein 5 isoform X2

      See identical proteins and their annotated locations for XP_011526903.1

      UniProtKB/Swiss-Prot
      Q8TCV5
      Conserved Domains (1) summary
      cl00156
      Location:62 → 120
      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. XM_047439930.1 → XP_047295886.1  WAP four-disulfide core domain protein 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46845367..46852223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323073.1 → XP_054179048.1  WAP four-disulfide core domain protein 5 isoform X2

    2. XM_054323072.1 → XP_054179047.1  WAP four-disulfide core domain protein 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCV5.1 GenPept UniProtKB/Swiss-Prot:Q8TCV5

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