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Aliases for HECTD1 Gene

Aliases for HECTD1 Gene

  • HECT Domain E3 Ubiquitin Protein Ligase 1 2 3 5
  • HECT Domain Containing E3 Ubiquitin Protein Ligase 1 2 3
  • HECT-Type E3 Ubiquitin Transferase HECTD1 3 4
  • HECT Domain-Containing Protein 1 3 4
  • E3 Ligase For Inhibin Receptor 3 4
  • EULIR 3 4
  • E3 Ubiquitin-Protein Ligase HECTD1 3
  • EC 2.3.2.26 4
  • KIAA1131 4

External Ids for HECTD1 Gene

Previous GeneCards Identifiers for HECTD1 Gene

  • GC14M025356
  • GC14M029559
  • GC14M030639
  • GC14M031569
  • GC14M011686

Summaries for HECTD1 Gene

GeneCards Summary for HECTD1 Gene

HECTD1 (HECT Domain E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. 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 binding and ubiquitin-protein transferase activity. An important paralog of this gene is TRIP12.

UniProtKB/Swiss-Prot for HECTD1 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. Mediates Lys-63-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure.

Additional gene information for HECTD1 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 HECTD1 Gene

Genomics for HECTD1 Gene

GeneHancer (GH) Regulatory Elements for HECTD1 Gene

Promoters and enhancers for HECTD1 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
GH14I031204 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561.9 +0.8 769 5.1 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 HECTD1 G2E3 RPL21P5 SCFD1 ARHGAP5 HEATR5A DTD2 RNU6-541P
GH14I032200 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 21 -994.3 -994334 4.1 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 GC14P032203 RNU6-7 RNU6-8 HECTD1 NPAS3 AKAP6 ARHGAP5
GH14I031228 Enhancer 1.6 FANTOM5 Ensembl ENCODE 26.5 -21.4 -21396 2.6 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 HECTD1 SCFD1 ENSG00000203546 STRN3 GC14P031245
GH14I031418 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.9 -212.4 -212411 3.9 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SLC30A9 LOC101927124 HEATR5A LOC644295 HECTD1 DTD2 ENSG00000203546
GH14I031456 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.1 -249.1 -249103 2.3 HDGF PKNOX1 CLOCK FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 DTD2 ENSG00000203546 HEATR5A LOC101927124 HECTD1 GC14P031438
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HECTD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HECTD1 gene promoter:

Genomic Locations for HECTD1 Gene

Genomic Locations for HECTD1 Gene
chr14:31,100,112-31,208,060
(GRCh38/hg38)
Size:
107,949 bases
Orientation:
Minus strand
chr14:31,569,318-31,677,010
(GRCh37/hg19)

Genomic View for HECTD1 Gene

Genes around HECTD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HECTD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HECTD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HECTD1 Gene

Proteins for HECTD1 Gene

  • Protein details for HECTD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULT8-HECD1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase HECTD1
    Protein Accession:
    Q9ULT8
    Secondary Accessions:
    • D3DS86
    • Q6P445
    • Q86VJ1
    • Q96F34
    • Q9UFZ7

    Protein attributes for HECTD1 Gene

    Size:
    2610 amino acids
    Molecular mass:
    289384 Da
    Quaternary structure:
    • Interacts with IGSF1 (PubMed:12421765). Interacts (via N-terminus) with HSP90AA1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for HECTD1 Gene

neXtProt entry for HECTD1 Gene

Post-translational modifications for HECTD1 Gene

  • Ubiquitination at isoforms=229, isoforms=255, isoforms=522, isoforms=1272, posLast=12871287, posLast=13711371, isoforms=1768, posLast=19191919, isoforms=2268, and isoforms=2605

No data available for DME Specific Peptides for HECTD1 Gene

Domains & Families for HECTD1 Gene

Gene Families for HECTD1 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q9ULT8

UniProtKB/Swiss-Prot:

HECD1_HUMAN :
  • Belongs to the UPL family. K-HECT subfamily.
Family:
  • Belongs to the UPL family. K-HECT subfamily.
genes like me logo Genes that share domains with HECTD1: view

Function for HECTD1 Gene

Molecular function for HECTD1 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 which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates Lys-63-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure.

Enzyme Numbers (IUBMB) for HECTD1 Gene

Gene Ontology (GO) - Molecular Function for HECTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12421765
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
genes like me logo Genes that share ontologies with HECTD1: view
genes like me logo Genes that share phenotypes with HECTD1: view

Animal Models for HECTD1 Gene

MGI Knock Outs for HECTD1:

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HECTD1 Gene

Localization for HECTD1 Gene

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 HECTD1 gene
Compartment Confidence
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HECTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with HECTD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HECTD1 Gene

Pathways & Interactions for HECTD1 Gene

genes like me logo Genes that share pathways with HECTD1: view

UniProtKB/Swiss-Prot Q9ULT8-HECD1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HECTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with HECTD1: view

No data available for SIGNOR curated interactions for HECTD1 Gene

Drugs & Compounds for HECTD1 Gene

No Compound Related Data Available

Transcripts for HECTD1 Gene

Unigene Clusters for HECTD1 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HECTD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: - -
SP5: - - -
SP6: - - - -
SP7: - - -
SP8:
SP9:
SP10:

ExUns: 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for HECTD1 Gene

GeneLoc Exon Structure for
HECTD1
ECgene alternative splicing isoforms for
HECTD1

Expression for HECTD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HECTD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HECTD1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.8).

Protein differential expression in normal tissues from HIPED for HECTD1 Gene

This gene is overexpressed in Cervix (25.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HECTD1 Gene



Protein tissue co-expression partners for HECTD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HECTD1 Gene:

HECTD1

SOURCE GeneReport for Unigene cluster for HECTD1 Gene:

Hs.708017

Evidence on tissue expression from TISSUES for HECTD1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(4.4)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with HECTD1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HECTD1 Gene

Orthologs for HECTD1 Gene

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

Orthologs for HECTD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HECTD1 33 34
  • 99.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HECTD1 34
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HECTD1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HECTD1 33 34
  • 95.15 (n)
cow
(Bos Taurus)
Mammalia HECTD1 33 34
  • 95.07 (n)
mouse
(Mus musculus)
Mammalia Hectd1 33 16 34
  • 91.85 (n)
rat
(Rattus norvegicus)
Mammalia Hectd1 33
  • 91.71 (n)
chicken
(Gallus gallus)
Aves HECTD1 33 34
  • 86.49 (n)
lizard
(Anolis carolinensis)
Reptilia HECTD1 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hectd1 33
  • 75.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19091 33
zebrafish
(Danio rerio)
Actinopterygii hectd1 33 33 34
  • 76.18 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1384 33
fruit fly
(Drosophila melanogaster)
Insecta CG5604 33 34
  • 57.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009511 33
  • 54.35 (n)
worm
(Caenorhabditis elegans)
Secernentea hecd-1 33 34
  • 53.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UFD4 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1003 34
  • 41 (a)
OneToOne
Species where no ortholog for HECTD1 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)
  • 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 HECTD1 Gene

ENSEMBL:
Gene Tree for HECTD1 (if available)
TreeFam:
Gene Tree for HECTD1 (if available)

Paralogs for HECTD1 Gene

Paralogs for HECTD1 Gene

genes like me logo Genes that share paralogs with HECTD1: view

Variants for HECTD1 Gene

Sequence variations from dbSNP and Humsavar for HECTD1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000008287 -- 31,118,999(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000010869 -- 31,160,918(-) C/T intron_variant
rs1000058581 -- 31,202,025(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000095089 -- 31,133,669(-) A/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000110630 -- 31,126,395(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HECTD1 Gene

Variant ID Type Subtype PubMed ID
esv33189 CNV loss 17666407
esv3584215 CNV gain 25503493
esv3892495 CNV gain 25118596
nsv1043033 CNV gain 25217958
nsv1049063 CNV gain 25217958
nsv1050054 CNV gain 25217958
nsv1234 CNV insertion 18451855
nsv832763 CNV loss 17160897
nsv976325 CNV duplication 23825009
nsv983810 CNV duplication 23825009

Variation tolerance for HECTD1 Gene

Residual Variation Intolerance Score: 0.392% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.23; 70.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HECTD1 Gene

Human Gene Mutation Database (HGMD)
HECTD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HECTD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HECTD1 Gene

Disorders for HECTD1 Gene

Additional Disease Information for HECTD1

No disorders were found for HECTD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HECTD1 Gene

Publications for HECTD1 Gene

  1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PMID: 12421765) Nakayama M … Ohara O (Genome research 2002) 3 4 58
  4. HECTD1 controls the protein level of IQGAP1 to regulate the dynamics of adhesive structures. (PMID: 28073378) Shen X … Zhang H (Cell communication and signaling : CCS 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for HECTD1 Gene

Sources for HECTD1 Gene

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