WWP1 Gene (Protein Coding)

WW Domain Containing E3 Ubiquitin Protein Ligase 1

GC08P086342
GIFtS:
42
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 ... See more...

Aliases for WWP1 Gene

Aliases for WWP1 Gene

  • WW Domain Containing E3 Ubiquitin Protein Ligase 1 2 3 5
  • AIP5 2 3 4
  • NEDD4-Like E3 Ubiquitin-Protein Ligase WWP1 3 4
  • HECT-Type E3 Ubiquitin Transferase WWP1 3 4
  • TGIF-Interacting Ubiquitin Ligase 1 3 4
  • WW Domain-Containing Protein 1 3 4
  • Tiul1 3 4
  • Nedd-4-Like Ubiquitin-Protein Ligase 3
  • Atrophin-1 Interacting Protein 5 3
  • Atrophin-1-Interacting Protein 5 4
  • DKFZP434D2111 2
  • EC 2.3.2.26 4
  • EC 6.3.2 51
  • HSDRP1 3
  • WWP1 5

External Ids for WWP1 Gene

Previous GeneCards Identifiers for WWP1 Gene

  • GC08P085970
  • GC08P087113
  • GC08P087337
  • GC08P087311
  • GC08P087424
  • GC08P082564

Summaries for WWP1 Gene

Entrez Gene Summary for WWP1 Gene

  • 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]

GeneCards Summary for WWP1 Gene

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.

UniProtKB/Swiss-Prot Summary for WWP1 Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to TGF-beta signaling, which requires interaction with TGIF.

Gene Wiki entry for WWP1 Gene

Additional gene information for WWP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WWP1 Gene

Genomics for WWP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for WWP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J086341 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 608.1 +0.8 810 4.3 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF512 LEF1 BACH1 TARDBP WWP1 ENSG00000254231 LOC105375624 MN298517 lnc-SLC7A13-1 RMDN1
GH08J086351 Promoter 0.3 EPDnew 600.4 +9.4 9445 0.1 WWP1 RMDN1 LOC105375624 RF00693-003
GH08J086507 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.7 +165.8 165773 2.6 HNRNPL CREB1 CTCF TEAD4 PRDM10 REST TFE3 KDM1A POLR2A BACH1 RMDN1 lnc-CNGB3-1 WWP1 NTAN1P2 ENSG00000254231 CPNE3 SLC2A3P4
GH08J086125 Enhancer 1.1 Ensembl ENCODE 16.3 -214.4 -214446 6.6 GATAD2A CTCF ATF7 TFE3 NFKBIZ RCOR2 ZIC2 RXRB REST RAD21 piR-38344-133 ENSG00000253699 WWP1 ENSG00000253675 ENSG00000254231 PSKH2 ATP6V0D2 SLC7A13
GH08J086513 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 6.2 +172.5 172480 2.4 SP1 HNRNPL CREB1 PRDM10 REST TFE3 POLR2A BACH1 TARDBP FOXA1 RMDN1 CPNE3 HSALNG0066744 WWP1 Hsa-Mir-574_5p-063 CNGB3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WWP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WWP1

Top Transcription factor binding sites by QIAGEN in the WWP1 gene promoter:
  • aMEF-2
  • AML1a
  • ATF6
  • Bach2
  • HFH-1
  • MAZR
  • MEF-2A
  • MIF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for WWP1 Gene

Genomic Locations for WWP1 Gene
chr8:86,342,547-86,478,420
(GRCh38/hg38)
Size:
135,874 bases
Orientation:
Plus strand
chr8:87,354,967-87,490,649
(GRCh37/hg19)
Size:
135,683 bases
Orientation:
Plus strand

Genomic View for WWP1 Gene

Genes around WWP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WWP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WWP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for WWP1 Gene

Proteins for WWP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for WWP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0M0-WWP1_HUMAN
    Recommended name:
    NEDD4-like E3 ubiquitin-protein ligase WWP1
    Protein Accession:
    Q9H0M0
    Secondary Accessions:
    • O00307
    • Q5YLC1
    • Q96BP4

    Protein attributes for WWP1 Gene

    Size:
    922 amino acids
    Molecular mass:
    105202 Da
    Quaternary structure:
    • Binds KLF2 AND HIVEP3 (By similarity). Binds SCNN1A, SCNN1B, SCNN1G, WBP1, WBP2, DRPLA and adenovirus type 2 PIII. Interacts with RNF11 (By similarity). Interacts with SPART. Interacts with ERBB4 isoforms JM-B CYT-1 and JM-A CYT-1. Interacts with SMAD1, SMAD2, SMAD3, SMAD5, SMAD6, SMAD7, TGFBR1 AND TGFBR2. Associates with the TGFBR1:TGFBR2 receptor complex in presence of SMAD7. Interacts with SKIL isoform 1. Interacts with TP63 isoform 1 and isoform 2. Interacts with STAMBP and RNF11. Interacts with NDFIP1 and NDFIP2 (Probable); this interaction activates the E3 ubiquitin-protein ligase. Interacts with TGIF. Interacts (via WW domains) with ARRDC1, ARRDC2 and ARRDC3 (PubMed:21191027).
    • (Microbial infection) Interacts with HTLV-1 protein Gag.
    • (Microbial infection) Interacts with ebola virus protein VP40.

    Three dimensional structures from OCA and Proteopedia for WWP1 Gene

    Alternative splice isoforms for WWP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WWP1 Gene

Protein Expression for WWP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for WWP1 Gene

Q9H0M0:
  • LQINPAS
  • PLPPGWE
  • TQWEDPR
  • HGKFIDTGF
  • GSNGPQKFCI
  • VDHNTRTTT
  • TLFEDSFQQIM
  • FIGRFIAMAL
  • EFYNSLIW
  • REWFFLLSHEVLNPMYCLFEYA
  • AREWFFLLS
  • RTTTWQRPT
  • HTCFNRLDLPPY
  • RLLQFVTG

Post-translational modifications for WWP1 Gene

Other Protein References for WWP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for WWP1

Domains & Families for WWP1 Gene

Gene Families for WWP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for WWP1 Gene

InterPro:
Blocks:
  • C2 domain
  • HECT domain (Ubiquitin-protein ligase)
  • WW domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for WWP1 Gene

GenScript: Design optimal peptide antigens:
  • WW domain-containing protein 1 (WWP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0M0

UniProtKB/Swiss-Prot:

WWP1_HUMAN :
  • The WW domains mediate interaction with PPxY motif-containing proteins.
Domain:
  • The WW domains mediate interaction with PPxY motif-containing proteins.
genes like me logo Genes that share domains with WWP1: view

Function for WWP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for WWP1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to TGF-beta signaling, which requires interaction with TGIF.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.26;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by NDFIP1- and NDFIP2-binding.

Enzyme Numbers (IUBMB) for WWP1 Gene

Phenotypes From GWAS Catalog for WWP1 Gene

Gene Ontology (GO) - Molecular Function for WWP1 Gene

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
genes like me logo Genes that share ontologies with WWP1: view
genes like me logo Genes that share phenotypes with WWP1: view

Animal Models for WWP1 Gene

MGI Knock Outs for WWP1:
  • Wwp1 Wwp1<tm1Lmat>

Animal Model Products

  • Taconic Biosciences Mouse Models for WWP1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WWP1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WWP1 Gene

Localization for WWP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WWP1 Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WWP1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
nucleus 4
mitochondrion 2
endosome 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WWP1 Gene

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 --
genes like me logo Genes that share ontologies with WWP1: view

Pathways & Interactions for WWP1 Gene

genes like me logo Genes that share pathways with WWP1: view

Pathways by source for WWP1 Gene

2 KEGG pathways for WWP1 Gene
2 Qiagen pathways for WWP1 Gene
  • SMAD Signaling Network
  • Ubiquitin-Proteasome Dependent Proteolysis

UniProtKB/Swiss-Prot Q9H0M0-WWP1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for WWP1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for WWP1 Gene

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 --
genes like me logo Genes that share ontologies with WWP1: view

Drugs & Compounds for WWP1 Gene

Products:

  1. Drug

(1) Additional Compounds for WWP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WWP1: view

Transcripts for WWP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for WWP1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WWP1

Alternative Splicing Database (ASD) splice patterns (SP) for WWP1 Gene

No ASD Table

Relevant External Links for WWP1 Gene

GeneLoc Exon Structure for
WWP1

Expression for WWP1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WWP1 Gene

mRNA expression in normal human tissues for WWP1 Gene
mRNA expression by GTEx for WWP1 GenemRNA expression by BioGPS for WWP1 Gene

mRNA differential expression in normal tissues according to GTEx for WWP1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.7).

Protein differential expression in normal tissues from HIPED for WWP1 Gene

This gene is overexpressed in CD8 Tcells (18.7), Gallbladder (16.7), Testis (16.6), Placenta (7.8), and Retina (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WWP1 Gene



Protein tissue co-expression partners for WWP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WWP1

SOURCE GeneReport for Unigene cluster for WWP1 Gene:

Hs.655189

mRNA Expression by UniProt/SwissProt for WWP1 Gene:

Q9H0M0-WWP1_HUMAN
Tissue specificity: Detected in heart, placenta, pancreas, kidney, liver, skeletal muscle, bone marrow, fetal brain, and at much lower levels in adult brain and lung. Isoform 1 and isoform 5 predominate in all tissues tested, except in testis and bone marrow, where isoform 5 is expressed at much higher levels than isoform 1.

Evidence on tissue expression from TISSUES for WWP1 Gene

  • Nervous system(4.7)
  • Lung(4.4)
  • Bone marrow(4.4)
  • Muscle(2.9)
  • Liver(2.8)
  • Kidney(2.8)
  • Heart(2.8)
  • Spleen(2.3)
  • Skin(2.3)
  • Intestine(2.2)
  • Lymph node(2.1)
  • Pancreas(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with WWP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for WWP1 Gene

Orthologs for WWP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WWP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia WWP1 30 31
  • 99.89 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia WWP1 30 31
  • 93.82 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia WWP1 30 31
  • 91.49 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Wwp1 30 17 31
  • 90.27 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Wwp1 30
  • 89.47 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia WWP1 31
  • 85 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia WWP1 31
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves WWP1 30 31
  • 79.91 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia WWP1 31
  • 81 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia wwp1 30
  • 73 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.19332 30
Zebrafish
(Danio rerio)
 Actinopterygii WWP1 31
  • 93 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Su(dx) 30 31 32
  • 56.08 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009074 30
  • 55.65 (n)
Worm
(Caenorhabditis elegans)
 Secernentea Y65B4BR.4a 32
  • 64 (a)
Y65B4BR.4b 32
  • 64 (a)
wwp-1 30 31
  • 60.43 (n)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RSP5 31
  • 39 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9326 31
  • 72 (a)
 OneToMany
Species where no ortholog for WWP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for WWP1 Gene

ENSEMBL:
Gene Tree for WWP1 (if available)
TreeFam:
Gene Tree for WWP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WWP1: view image

Paralogs for WWP1 Gene

Paralogs for WWP1 Gene

(11) SIMAP similar genes for WWP1 Gene using alignment to 3 proteins:

  • WWP1_HUMAN
  • H0YBA4_HUMAN
  • H0YBS9_HUMAN

Pseudogenes.org Pseudogenes for WWP1 Gene

genes like me logo Genes that share paralogs with WWP1: view

Variants for WWP1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WWP1 Gene

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

Additional dbSNP identifiers (rs#s) for WWP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for WWP1 Gene

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

Variation tolerance for WWP1 Gene

Residual Variation Intolerance Score: 9.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WWP1 Gene

Human Gene Mutation Database (HGMD)
WWP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WWP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WWP1 Gene

Disorders for WWP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for WWP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic paraplegia 20, autosomal recessive
  • trs
breast mucinous carcinoma
  • invasive mucinous breast carcinoma
liddle syndrome 1
  • lidls1
- elite association - COSMIC cancer census association via MalaCards
Search WWP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WWP1

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with WWP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WWP1 Gene

Publications for WWP1 Gene

  1. Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. (PMID: 19580544) Edwards TL … Reid E (The Biochemical journal 2009) 3 4 23
  2. The WW domain containing E3 ubiquitin protein ligase 1 upregulates ErbB2 and EGFR through RING finger protein 11. (PMID: 18724389) Chen C … Seth AK (Oncogene 2008) 3 4 23
  3. Negative regulation of transforming growth factor-beta (TGF-beta) signaling by WW domain-containing protein 1 (WWP1). (PMID: 15221015) Komuro A … Miyazawa K (Oncogene 2004) 3 4 23
  4. The novel E3 ubiquitin ligase Tiul1 associates with TGIF to target Smad2 for degradation. (PMID: 15359284) Seo SR … Atfi A (The EMBO journal 2004) 3 4 23
  5. Adenovirus protein involved in virus internalization recruits ubiquitin-protein ligases. (PMID: 12450395) Galinier R … Chroboczek J (Biochemistry 2002) 3 4 23

ExternalLinks

View latest publications for WWP1 gene in Mastermind

Products for WWP1 Gene

  • Addgene plasmids for WWP1
  • Signalway Proteins for WWP1

Sources for WWP1 Gene