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

Gene ID: 58189, updated on 21-Dec-2019

Summary

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
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

Genomic context

See WFDC1 in Genome Data Viewer
Location:
16q24.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (84292233..84329850)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84328244..84363450)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel modifier subfamily G member 4 Neighboring gene RNA, 5S ribosomal pseudogene 433 Neighboring gene ATPase secretory pathway Ca2+ transporting 2 Neighboring gene ATP2C2 antisense RNA 1 Neighboring gene MTOR associated protein, eak-7 homolog

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of cell growth NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of wound healing IEA
Inferred from Electronic Annotation
more info
 
regulation of cell growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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_001282466.2NP_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
    Q9HC57
    Related
    ENSP00000456920.1, ENST00000568638.1
    Conserved Domains (1) summary
    cl00156
    Location:82108
    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_001282467.2NP_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:82108
    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_021197.4NP_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
    Q9HC57
    Related
    ENSP00000219454.5, ENST00000219454.10
    Conserved Domains (1) summary
    cl00156
    Location:82108
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    84292233..84329850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450364.1XP_024306132.1  WAP four-disulfide core domain protein 1 isoform X1

    Conserved Domains (1) summary
    cl00156
    Location:82108
    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_024450365.1XP_024306133.1  WAP four-disulfide core domain protein 1 isoform X1

    Conserved Domains (1) summary
    cl00156
    Location:82108
    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 ...
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