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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]
WFDC1 (WAP Four-Disulfide Core Domain 1) is a Protein Coding gene. Diseases associated with WFDC1 include Corneal Staphyloma. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0004867 | serine-type endopeptidase inhibitor activity | IEA | -- |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IEA,NAS | 10967136 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001558 | regulation of cell growth | IBA | 21873635 |
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
GO:0010951 | negative regulation of endopeptidase activity | IEA | -- |
GO:0030308 | negative regulation of cell growth | NAS | 10967136 |
GO:0032355 | response to estradiol | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WFDC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | WFDC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WFDC1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Wfdc1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | WFDC1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wfdc1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | WFDC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WFDC1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WFDC1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | wfdc1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715685 | Benign: not provided | 84,324,442(+) | C/G | MISSENSE_VARIANT | |
718633 | Likely Benign: not provided | 84,294,984(+) | G/A | MISSENSE_VARIANT | |
719534 | Benign: not provided | 84,319,550(+) | G/A | MISSENSE_VARIANT | |
736083 | Likely Benign: not provided | 84,324,433(+) | C/T | NONSENSE | |
736832 | Likely Benign: not provided | 84,312,984(+) | C/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1372n106 | CNV | deletion | 24896259 |
dgv547e214 | CNV | loss | 21293372 |
dgv548e214 | CNV | gain | 21293372 |
esv2714827 | CNV | deletion | 23290073 |
esv2761930 | CNV | gain | 21179565 |
esv3639414 | CNV | loss | 21293372 |
nsv483044 | CNV | gain | 15286789 |
nsv523416 | CNV | loss | 19592680 |
nsv573425 | CNV | loss | 21841781 |
nsv833310 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal staphyloma |
|
|