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

Gene ID: 149708, updated on 10-Dec-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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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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