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WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]
WWP1 (WW Domain Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with WWP1 include Spastic Paraplegia 20, Autosomal Recessive and Breast Mucinous Carcinoma. Among its related pathways are Signaling by ERBB4 and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is ITCH.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | TAS | 9169421 |
GO:0005515 | protein binding | IPI | 9647693 |
GO:0016740 | transferase activity | IEA | -- |
GO:0061630 | ubiquitin protein ligase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | NAS | 9169421 |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Signaling by ERBB4 | ||
3 | Ion channel transport | ||
4 | Endocytosis | ||
5 | Ubiquitin mediated proteolysis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IBA | 21873635 |
GO:0006511 | ubiquitin-dependent protein catabolic process | IBA | 21873635 |
GO:0007165 | signal transduction | NAS | 9169421 |
GO:0007417 | central nervous system development | NAS | 9647693 |
GO:0016032 | viral process | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | WWP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | WWP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WWP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Wwp1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Wwp1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | WWP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | WWP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WWP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | WWP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | wwp1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19332 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | WWP1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Su(dx) 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009074 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y65B4BR.4a 32 |
|
|
|
Y65B4BR.4b 32 |
|
|
|||
wwp-1 30 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RSP5 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9326 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs773370868 | Uncertain Significance: Wolff-Parkinson-White pattern | 86,442,659(+) | A/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1003777 | CNV | insertion | 20482838 |
esv2658378 | CNV | deletion | 23128226 |
esv3429661 | CNV | insertion | 20981092 |
esv3617910 | CNV | loss | 21293372 |
nsv1017535 | CNV | gain | 25217958 |
nsv1023510 | CNV | loss | 25217958 |
nsv1077057 | CNV | deletion | 25765185 |
nsv1115113 | CNV | deletion | 24896259 |
nsv1133692 | CNV | deletion | 24896259 |
nsv1144229 | CNV | deletion | 24896259 |
nsv397543 | CNV | insertion | 16902084 |
nsv476257 | CNV | novel sequence insertion | 20440878 |
nsv971679 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 20, autosomal recessive |
|
|
breast mucinous carcinoma |
|
|
liddle syndrome 1 |
|
|