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WFDC3 WAP four-disulfide core domain 3 [ Homo sapiens (human) ]

Gene ID: 140686, updated on 3-Apr-2024

Summary

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Official Symbol
WFDC3provided by HGNC
Official Full Name
WAP four-disulfide core domain 3provided by HGNC
Primary source
HGNC:HGNC:15957
See related
Ensembl:ENSG00000124116 AllianceGenome:HGNC:15957
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
WAP14; dJ447F3.3
Summary
This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. 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. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 19.8) See more
Orthologs
mouse all
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Genomic context

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Location:
20q13.12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45774213..45791883, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47510745..47528411, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44402852..44420522, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene serine peptidase inhibitor, Kunitz type 5, pseudogene Neighboring gene uncharacterized LOC124904915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44391506-44392438 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:44393372-44394304 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:44394305-44395236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44399706-44400299 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44400300-44400892 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60389 Neighboring gene Sharpr-MPRA regulatory region 12827 Neighboring gene RNA, U6atac small nuclear 38, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44408579-44409079 Neighboring gene Sharpr-MPRA regulatory region 6194 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12961 Neighboring gene deoxynucleotidyltransferase terminal interacting protein 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12962 Neighboring gene ubiquitin conjugating enzyme E2 C

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. 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
  2. Reproduction and immunity-driven natural selection in the human WFDC locus. Ferreira Z, et al. Mol Biol Evol, 2013 Apr. PMID 23292442, Free PMC Article
  3. A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. Clauss A, et al. Biochem J, 2002 Nov 15. PMID 12206714, Free PMC Article
  4. The evolution of a genetic locus encoding small serine proteinase inhibitors. Clauss A, et al. Biochem Biophys Res Commun, 2005 Jul 29. PMID 15950183, Free PMC Article
  5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High WFDC3 gene expression is associated with poor prognosis and reduced immune cells infiltration in pancreatic adenocarcinoma: A study using the TCGA database and bioinformatics analysis.
    Title: High WFDC3 gene expression is associated with poor prognosis and reduced immune cells infiltration in pancreatic adenocarcinoma: A study using the TCGA database and bioinformatics analysis.
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)

Genotypes

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 3
Names
protease inhibitor WAP14
putative protease inhibitor WAP14
whey acidic protein 14

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_080614.2 → NP_542181.1  WAP four-disulfide core domain protein 3 precursor

    See identical proteins and their annotated locations for NP_542181.1

    Status: REVIEWED

    Source sequence(s)
    AL050348
    Consensus CDS
    CCDS33478.1
    UniProtKB/Swiss-Prot
    A6PVF2, Q0P6A5, Q3T1C5, Q8IUB2, Q8TC52, Q9BQP3, Q9BQP4
    UniProtKB/TrEMBL
    H0Y2V5
    Related
    ENSP00000243938.4, ENST00000243938.9
    Conserved Domains (1) summary
    pfam00095
    Location:168 → 206
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    45774213..45791883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528553.3 → XP_011526855.1  WAP four-disulfide core domain protein 3 isoform X1

    UniProtKB/TrEMBL
    H0Y2V5
    Conserved Domains (1) summary
    pfam00095
    Location:174 → 212
    WAP; WAP-type (Whey Acidic Protein) 'four-disulfide core'

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    47510745..47528411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323003.1 → XP_054178978.1  WAP four-disulfide core domain protein 3 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181522.1: Suppressed sequence

    Description
    NM_181522.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_181525.1: Suppressed sequence

    Description
    NM_181525.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  3. NM_181530.1: Suppressed sequence

    Description
    NM_181530.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUB2.1 GenPept UniProtKB/Swiss-Prot:Q8IUB2

Gene LinkOut

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