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

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; 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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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).
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH102452 (e-PCR)
- UniSTS:96786

RH93139 (e-PCR)
- UniSTS:84051

D1S1423 (e-PCR)
- UniSTS:149619

G54064 (e-PCR)
- UniSTS:109446

D11S3114 (e-PCR)
- UniSTS:152207

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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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)

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 ...
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 ...
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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

84294878..84329844

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

90352943..90396238

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

D3DUL7, Q8NC27, Q9HAU1, Q9HC57
XM_054313565.1 → XP_054169540.1 WAP four-disulfide core domain protein 1 isoform X2

UniProtKB/Swiss-Prot

D3DUL7, Q8NC27, Q9HAU1, Q9HC57
XM_054313566.1 → XP_054169541.1 WAP four-disulfide core domain protein 1 isoform X2

UniProtKB/Swiss-Prot

D3DUL7, Q8NC27, Q9HAU1, Q9HC57
XM_054313567.1 → XP_054169542.1 WAP four-disulfide core domain protein 1 isoform X2

UniProtKB/Swiss-Prot

D3DUL7, Q8NC27, Q9HAU1, Q9HC57
XM_054313568.1 → XP_054169543.1 WAP four-disulfide core domain protein 1 isoform X2

UniProtKB/Swiss-Prot

D3DUL7, Q8NC27, Q9HAU1, Q9HC57