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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
  • NEDL1 3 4 6
  • KIAA0322 4 6
  • 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 6.3.2.- 4
  • EC 6.3.2 63
  • HNEDL1 4

External Ids for HECW1 Gene

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 Ubiquitin-Proteasome Dependent Proteolysis and SMAD Signaling Network. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is AREL1.

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.

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

Genomics for HECW1 Gene

Genomic Location for HECW1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HECW1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HECW1 Gene

Regulatory Elements 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

Proteomics data for HECW1 Gene at MOPED

Selected DME Specific Peptides for HECW1 Gene

Post-translational modifications for HECW1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HECW1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for HECW1 Gene

Protein Domains for HECW1 Gene

Graphical View of Domain Structure for InterPro Entry

Q76N89

UniProtKB/Swiss-Prot:

HECW1_HUMAN
Domain:
  • Contains 1 C2 domain.:
    • Q76N89
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.:
    • Q76N89
  • Contains 2 WW domains.:
    • Q76N89
genes like me logo Genes that share domains with HECW1: view

No data available for Gene Families for HECW1 Gene

Function for HECW1 Gene

Molecular function for HECW1 Gene

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

Gene Ontology (GO) - Molecular Function for HECW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding --
GO:0016874 ligase 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

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HECW1 Gene

Localization for HECW1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HECW1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HECW1 Gene COMPARTMENTS Subcellular localization image for HECW1 gene
Compartment Confidence
cytosol 4
nucleus 4

Gene Ontology (GO) - Cellular Components for HECW1 Gene

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

Pathways 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:0042787 protein ubiquitination involved in 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

Transcripts for HECW1 Gene

mRNA/cDNA for HECW1 Gene

(14) 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:

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 for HECW1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (9.4), Brain - Cortex (8.7), and Brain - Anterior cingulate cortex (BA24) (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HECW1 Gene

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.
genes like me logo Genes that share expressions with HECW1: view

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 35
  • 99.65 (n)
  • 99.75 (a)
HECW1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HECW1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HECW1 35
  • 87.25 (n)
  • 88.32 (a)
HECW1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hecw1 35
  • 85.06 (n)
  • 88.98 (a)
Hecw1 16
Hecw1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HECW1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HECW1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hecw1 35
  • 84.92 (n)
  • 88.66 (a)
chicken
(Gallus gallus)
Aves HECW1 35
  • 75.96 (n)
  • 82.66 (a)
HECW1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HECW1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hecw1 35
  • 70.51 (n)
  • 79.82 (a)
zebrafish
(Danio rerio)
Actinopterygii HECW1 (2 of 3) 36
  • 55 (a)
OneToMany
HECW1 (3 of 3) 36
  • 92 (a)
OneToMany
hecw1b 35
  • 68.82 (n)
  • 74.3 (a)
hecw1b 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42797 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hecw-1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1682 36
  • 65 (a)
OneToMany
Species with no ortholog for HECW1:
  • 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

Paralogs for HECW1 Gene

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

Variants for HECW1 Gene

Sequence variations from dbSNP and Humsavar for HECW1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs462 -- 43,263,084(+) ATTTT(C/T)CGCAA intron-variant
rs463 -- 43,263,185(+) TTTTA(C/T)TGAAG intron-variant
rs2292 -- 43,503,054(+) AAGTC(C/T)CTCTT intron-variant
rs717486 -- 43,466,921(+) TTCAC(C/T)GATAC intron-variant
rs718809 -- 43,201,594(+) TAAGG(G/T)ACCCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2676404 CNV Deletion 23128226
nsv887995 CNV Gain 21882294
esv2658966 CNV Deletion 23128226
nsv519952 CNV Loss 19592680
nsv515543 CNV Loss 19592680
nsv510956 CNV Complex 20534489
esv2664713 CNV Deletion 23128226
esv2597315 CNV Deletion 19546169
esv2040759 CNV Deletion 18987734
esv2734315 CNV Deletion 23290073
esv4590 CNV Deletion 18987735
nsv521089 CNV Loss 19592680
nsv519592 CNV Loss 19592680
nsv518728 CNV Loss 19592680
nsv510078 CNV Loss 20534489

Relevant External Links for HECW1 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with HECW1: view

No data available for UniProtKB/Swiss-Prot 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. (J. Biol. Chem. 2004) 2 3 4 23
  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 23
  3. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 2 3

Products for HECW1 Gene

Sources for HECW1 Gene

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