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Aliases for WWP1 Gene

Aliases for WWP1 Gene

  • WW Domain Containing E3 Ubiquitin Protein Ligase 1 2 3 5
  • 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
  • AIP5 3 4
  • NEDD4-Like E3 Ubiquitin-Protein Ligase WWP1 3
  • Nedd-4-Like Ubiquitin-Protein Ligase 3
  • Atrophin-1 Interacting Protein 5 3
  • Atrophin-1-Interacting Protein 5 4
  • EC 2.3.2.26 4
  • EC 6.3.2 56
  • HSDRP1 3

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. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is WWP2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for WWP1 Gene

Genomics for WWP1 Gene

GeneHancer (GH) Regulatory Elements for WWP1 Gene

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
GH08I086341 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.2 +0.6 621 4.3 PKNOX1 CLOCK FOXA2 ARNT ARID4B NEUROD1 SIN3A ZBTB7B YY1 ZNF766 WWP1 RMDN1 LOC105375624
GH08I086351 Promoter 0.5 EPDnew 550.4 +9.3 9256 0.1 WWP1 RMDN1 LOC105375624 PIR50774
GH08I086507 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 16.7 +165.6 165614 2.6 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 ZNF207 RMDN1 WWP1 NTAN1P2 LOC105375624 CPNE3 SLC2A3P4
GH08I086108 Enhancer 1.1 Ensembl ENCODE 10.5 -233.9 -233925 1.2 PKNOX1 ATF1 FOXA2 NEUROD1 FOS TSHZ1 MEF2D SMARCA4 PRDM4 WT1 SLC7A13 WWP1 LOC105375624 CA2 CA3-AS1 PSKH2 ENSG00000253675 ATP6V0D2
GH08I086127 Enhancer 0.9 ENCODE 11.7 -214.3 -214258 1.7 ELF3 FOXA2 MLX ARID4B DMAP1 RAD21 RARA YY1 ATF7 CREM LOC105375623 LOC105375624 WWP1 ENSG00000253675 PSKH2 ATP6V0D2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WWP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WWP1 gene promoter:

Genomic Locations for WWP1 Gene

Genomic Locations for WWP1 Gene
chr8:86,342,736-86,478,420
(GRCh38/hg38)
Size:
135,685 bases
Orientation:
Plus strand
chr8:87,354,967-87,490,649
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for WWP1 Gene

Proteins for WWP1 Gene

  • 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).

    Three dimensional structures from OCA and Proteopedia for WWP1 Gene

    Alternative splice isoforms for WWP1 Gene

neXtProt entry for WWP1 Gene

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

Domains & Families for WWP1 Gene

Gene Families for WWP1 Gene

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

Suggested Antigen Peptide Sequences for WWP1 Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for WWP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by NDFIP1- and NDFIP2-binding.
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.

Enzyme Numbers (IUBMB) 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 --
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:

miRNA for WWP1 Gene

Clone Products

  • Addgene plasmids for WWP1

No data available for Phenotypes From GWAS Catalog , 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
extracellular 5
cytosol 5
plasma membrane 4
nucleus 4
mitochondrion 2
golgi apparatus 2
peroxisome 1
endosome 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 --
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

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:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007165 signal transduction NAS 9169421
GO:0007417 central nervous system development NAS 9647693
GO:0016032 viral process IEA --
GO:0016567 protein ubiquitination TAS 12535537
genes like me logo Genes that share ontologies with WWP1: view

Drugs & Compounds for WWP1 Gene

(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

Unigene Clusters for WWP1 Gene

WW domain containing E3 ubiquitin protein ligase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
WWP1

Expression for WWP1 Gene

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



Protein tissue co-expression partners for WWP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of WWP1 Gene:

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(4.6)
  • Lung(4.3)
  • Bone marrow(4.2)
  • Muscle(2.3)
  • Liver(2)
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 33 34
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia WWP1 33 34
  • 93.82 (n)
cow
(Bos Taurus)
Mammalia WWP1 33 34
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Wwp1 33 16 34
  • 90.27 (n)
rat
(Rattus norvegicus)
Mammalia Wwp1 33
  • 89.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WWP1 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WWP1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves WWP1 33 34
  • 79.91 (n)
lizard
(Anolis carolinensis)
Reptilia WWP1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wwp1 33
  • 73 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19332 33
zebrafish
(Danio rerio)
Actinopterygii WWP1 34
  • 93 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Su(dx) 35 33 34
  • 56.08 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009074 33
  • 55.65 (n)
worm
(Caenorhabditis elegans)
Secernentea Y65B4BR.4a 35
  • 64 (a)
Y65B4BR.4b 35
  • 64 (a)
wwp-1 33 34
  • 60.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSP5 34
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9326 34
  • 72 (a)
OneToMany
Species where no ortholog for WWP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for WWP1 Gene

Paralogs for WWP1 Gene

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

Pseudogenes.org Pseudogenes for WWP1 Gene

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

Variants for WWP1 Gene

Sequence variations from dbSNP and Humsavar for WWP1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000000027 -- 86,407,902(+) T/C intron_variant
rs1000019789 -- 86,370,018(+) A/T intron_variant
rs1000033336 -- 86,363,565(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000063775 -- 86,460,933(+) T/C intron_variant
rs1000085164 -- 86,363,804(+) A/G genic_upstream_transcript_variant, intron_variant

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

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

Disorders for WWP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WWP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spastic paraplegia 20, autosomal recessive
  • spg20
- 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

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 22 58
  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 22 58
  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 22 58
  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 22 58
  5. Alternative splicing determines the domain structure of WWP1, a Nedd4 family protein. (PMID: 11779188) Flasza M … Baron M (Biochemical and biophysical research communications 2002) 3 4 22 58

Products for WWP1 Gene

  • Addgene plasmids for WWP1

Sources for WWP1 Gene

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