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Aliases for HECW1 Gene

Aliases for HECW1 Gene

  • HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 1 2 3 5
  • HECT-Type E3 Ubiquitin Transferase HECW1 3 4
  • NEDL1 3 4
  • HECT, C2 And WW Domain-Containing Protein 1 4
  • NEDD4-Like E3 Ubiquitin-Protein Ligase 1 4
  • NEDD4-Like Ubiquitin-Protein Ligase 1 3
  • E3 Ubiquitin-Protein Ligase HECW1 3
  • HECT Type E3 Ubiquitin Ligase 3
  • EC 2.3.2.26 4
  • KIAA0322 4
  • EC 6.3.2 58
  • HNEDL1 4

External Ids for HECW1 Gene

Previous GeneCards Identifiers for HECW1 Gene

  • GC07P043125
  • GC07P043118
  • GC07P043152

Summaries for HECW1 Gene

GeneCards Summary for HECW1 Gene

HECW1 (HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Among its related pathways are SMAD Signaling Network and Signaling by Wnt. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is HECW2.

UniProtKB/Swiss-Prot for HECW1 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS.

Additional gene information for HECW1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HECW1 Gene

Genomics for HECW1 Gene

Regulatory Elements for HECW1 Gene

Enhancers for HECW1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H043248 1.1 Ensembl ENCODE 21.8 +137.1 137050 2 GTF2F1 TBP ATF1 MAX SIN3A ZNF316 POLR2A ZNF366 SMARCC2 RCOR1 HECW1 ENSG00000228680 RPL18AP10
GH07H043078 1.1 FANTOM5 ENCODE 11.5 -34.7 -34666 1 MAFG DPF2 ZBTB40 GABPA FOSL1 ZNF316 MAFF POLR2A ATF7 ZBTB33 HECW1 HECW1-IT1 ENSG00000228680 LOC105375254 GC07P043096 LOC105375253
GH07H042945 1.1 Ensembl ENCODE 10.9 -166.5 -166493 1 BCOR HDAC1 HDGF PKNOX1 ATF1 NFRKB TAL1 ZMYM3 CHAMP1 FOSL1 C7orf25 HECW1 ENSG00000228680 LOC105375253 PSMA2
GH07H043071 0.7 ENCODE 11.4 -40.1 -40141 1 CTCF REST RAD21 CHAMP1 ZNF592 CC2D1A MTA3 SMARCA4 IKZF1 ZNF24 LOC105375254 HECW1 HECW1-IT1 GC07P043096 LOC105375253
GH07H043138 0.6 ENCODE 11.5 +27.5 27504 3 RNF2 ZIC2 SMARCA4 ZNF239 BCL6B SCRT2 GLIS1 CTBP2 HECW1-IT1 HECW1 RNU7-35P RNU6-575P ENSG00000228680 C7orf25 MIR3943
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HECW1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HECW1 Gene

Chromosome:
7
Start:
43,112,599 bp from pter
End:
43,566,001 bp from pter
Size:
453,403 bases
Orientation:
Plus strand

Genomic View for HECW1 Gene

Genes around HECW1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HECW1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HECW1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HECW1 Gene

Proteins for HECW1 Gene

  • Protein details for HECW1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q76N89-HECW1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase HECW1
    Protein Accession:
    Q76N89
    Secondary Accessions:
    • A7E2X0
    • A8MYS3
    • B4DH42
    • O15036
    • Q9HCC7

    Protein attributes for HECW1 Gene

    Size:
    1606 amino acids
    Molecular mass:
    179554 Da
    Quaternary structure:
    • Interacts with DVL1 and SSR3. Also interacts with mutant SOD1.
    SequenceCaution:
    • Sequence=BAA20780.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HECW1 Gene

    Alternative splice isoforms for HECW1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HECW1 Gene

Selected DME Specific Peptides for HECW1 Gene

Q76N89:
  • LYEKLLTAVEET
  • KNKKEYI
  • SCYSSSCY
  • NPYYGLF
  • RTTTWQRPT
  • HTCFNRLDLPPY
  • RLLQFVTG

Post-translational modifications for HECW1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HECW1 Gene

Gene Families for HECW1 Gene

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

Protein Domains for HECW1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HECW1: view

No data available for UniProtKB/Swiss-Prot for HECW1 Gene

Function for HECW1 Gene

Molecular function for HECW1 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 Function:
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS.

Enzyme Numbers (IUBMB) for HECW1 Gene

Phenotypes From GWAS Catalog for HECW1 Gene

Gene Ontology (GO) - Molecular Function for HECW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity TAS --
genes like me logo Genes that share ontologies with HECW1: view
genes like me logo Genes that share phenotypes with HECW1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HECW1
  • Applied Biological Materials Clones for HECW1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HECW1 Gene

Localization for HECW1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HECW1 Gene

Cytoplasm.

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 HECW1 gene
Compartment Confidence
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HECW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HECW1: view

Pathways & Interactions for HECW1 Gene

genes like me logo Genes that share pathways with HECW1: view

Pathways by source for HECW1 Gene

UniProtKB/Swiss-Prot Q76N89-HECW1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HECW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
GO:0090090 negative regulation of canonical Wnt signaling pathway TAS --
genes like me logo Genes that share ontologies with HECW1: view

No data available for SIGNOR curated interactions for HECW1 Gene

Drugs & Compounds for HECW1 Gene

No Compound Related Data Available

Transcripts for HECW1 Gene

mRNA/cDNA for HECW1 Gene

(21) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HECW1 Gene

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HECW1
  • Applied Biological Materials Clones for HECW1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HECW1 Gene

No ASD Table

Relevant External Links for HECW1 Gene

GeneLoc Exon Structure for
HECW1
ECgene alternative splicing isoforms for
HECW1

Expression for HECW1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HECW1 Gene

mRNA differential expression in normal tissues according to GTEx for HECW1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.4), Brain - Cortex (x8.7), and Brain - Anterior cingulate cortex (BA24) (x6.4).

Protein differential expression in normal tissues from HIPED for HECW1 Gene

This gene is overexpressed in Cervix (28.3), Serum (26.4), and Frontal cortex (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HECW1 Gene



Protein tissue co-expression partners for HECW1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HECW1 Gene:

HECW1

SOURCE GeneReport for Unigene cluster for HECW1 Gene:

Hs.164453

mRNA Expression by UniProt/SwissProt for HECW1 Gene:

Q76N89-HECW1_HUMAN
Tissue specificity: Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney.

Evidence on tissue expression from TISSUES for HECW1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with HECW1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HECW1 Gene

Orthologs for HECW1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HECW1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HECW1 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia HECW1 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HECW1 33 34
  • 87.25 (n)
mouse
(Mus musculus)
Mammalia Hecw1 33 16 34
  • 85.06 (n)
rat
(Rattus norvegicus)
Mammalia Hecw1 33
  • 84.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HECW1 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HECW1 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HECW1 33 34
  • 75.96 (n)
lizard
(Anolis carolinensis)
Reptilia HECW1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hecw1 33
  • 70.51 (n)
zebrafish
(Danio rerio)
Actinopterygii HECW1 (3 of 3) 34
  • 92 (a)
OneToMany
hecw1b 33 34
  • 68.82 (n)
HECW1 (2 of 3) 34
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42797 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hecw-1 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1682 34
  • 65 (a)
OneToMany
Species where no ortholog for HECW1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 HECW1 Gene

ENSEMBL:
Gene Tree for HECW1 (if available)
TreeFam:
Gene Tree for HECW1 (if available)

Paralogs for HECW1 Gene

Variants for HECW1 Gene

Sequence variations from dbSNP and Humsavar for HECW1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000005560 -- 43,328,138(+) CAAAG(C/T)GAGAC intron-variant
rs1000007825 -- 43,269,349(+) AAGTT(G/T)CCCCC intron-variant, upstream-variant-2KB
rs1000015538 -- 43,417,401(+) CCTTC(A/T)TCATG intron-variant
rs1000023021 -- 43,183,963(+) AATTT(A/T)AAAAA intron-variant
rs1000027188 -- 43,143,091(+) TCCAC(C/T)TCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HECW1 Gene

Variant ID Type Subtype PubMed ID
dgv3530n106 CNV deletion 24896259
esv2040759 CNV deletion 18987734
esv2597315 CNV deletion 19546169
esv2658966 CNV deletion 23128226
esv2664713 CNV deletion 23128226
esv2676404 CNV deletion 23128226
esv2734315 CNV deletion 23290073
esv3541553 CNV deletion 23714750
esv3541554 CNV deletion 23714750
esv3571813 CNV loss 25503493
esv3571814 CNV loss 25503493
esv3571815 CNV loss 25503493
esv3612984 CNV loss 21293372
esv3612986 CNV loss 21293372
esv3612989 CNV loss 21293372
esv3612990 CNV loss 21293372
esv3612991 CNV loss 21293372
esv3612992 CNV loss 21293372
esv3612993 CNV gain 21293372
esv3612994 CNV gain 21293372
esv3612996 CNV gain 21293372
esv4590 CNV loss 18987735
nsv1074500 CNV deletion 25765185
nsv473352 CNV novel sequence insertion 20440878
nsv510078 OTHER sequence alteration 20534489
nsv510956 OTHER complex 20534489
nsv515543 CNV loss 19592680
nsv518728 CNV loss 19592680
nsv519592 CNV loss 19592680
nsv519952 CNV loss 19592680
nsv521089 CNV loss 19592680
nsv951636 CNV deletion 24416366
nsv955967 CNV deletion 24416366

Variation tolerance for HECW1 Gene

Residual Variation Intolerance Score: 0.795% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 64.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HECW1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HECW1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HECW1 Gene

Disorders for HECW1 Gene

Relevant External Links for HECW1

Genetic Association Database (GAD)
HECW1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HECW1

No disorders were found for HECW1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HECW1 Gene

Publications for HECW1 Gene

  1. NEDL1, a novel ubiquitin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1. (PMID: 14684739) Miyazaki K … Nakagawara A (The Journal of biological chemistry 2004) 2 3 4 22 60
  2. A novel HECT-type E3 ubiquitin protein ligase NEDL1 enhances the p53-mediated apoptotic cell death in its catalytic activity-independent manner. (PMID: 18223681) Li Y … Nakagawara A (Oncogene 2008) 3 22 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 2 3 60
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 60

Products for HECW1 Gene

  • Addgene plasmids for HECW1

Sources for HECW1 Gene

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