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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 Immune System and Class I MHC mediated antigen processing and presentation. 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

  • Probable 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. May be required for development of the head mesenchyme and neural tube closure.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HECTD1 Gene

Genomics for HECTD1 Gene

Regulatory Elements for HECTD1 Gene

Enhancers for HECTD1 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
GH14F031228 1.8 FANTOM5 Ensembl ENCODE 12.6 -21.4 -21396 2.6 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 RPL21P5 HECTD1 ENSG00000203546 STRN3 GC14P031245
GH14F031261 1.7 FANTOM5 Ensembl ENCODE 11.3 -56.0 -56026 5.5 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 FOS ENSG00000203546 HECTD1 HEATR5A LOC101927124 DTD2 GC14M031259 ENSG00000199291 NARSP1
GH14F032200 1.5 FANTOM5 ENCODE 11.6 -994.3 -994335 4.1 PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 LOC100533787 ENSG00000257472 ENSG00000257155 ENSG00000258196 HECTD1 AKAP6 ARHGAP5 RNU6-7 RNU6-8
GH14F031164 1.1 Ensembl ENCODE 11.5 +42.4 42369 2.6 RARA FOS MIXL1 CEBPB PPARG MIER3 RCOR2 CEBPA SOX13 SAP130 RNU6-541P HECTD1 G2E3
GH14F031377 1.2 Ensembl ENCODE 10.2 -170.1 -170051 1.3 ATF1 MLX ARID4B DMAP1 SLC30A9 SP5 NFYC MXD4 MIER2 PPARG HEATR5A LOC101927124 HECTD1 RNU6-541P NUBPL ENSG00000203546 ATP5G1P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HECTD1 on UCSC Golden Path with GeneCards custom track

Promoters for HECTD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001456292 1359 4200 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for HECTD1 Gene

Chromosome:
14
Start:
31,100,112 bp from pter
End:
31,208,060 bp from pter
Size:
107,949 bases
Orientation:
Minus strand

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.

    Three dimensional structures from OCA and Proteopedia for HECTD1 Gene

neXtProt entry for HECTD1 Gene

Post-translational modifications for HECTD1 Gene

  • Ubiquitination at Lys 229, Lys 255, Lys 522, Lys 1272, Lys 1287, Lys 1371, Lys 1768, Lys 1919, Lys 2268, and Lys 2605
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HECTD1 Gene

Domains & Families for HECTD1 Gene

Gene Families for HECTD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULT8

UniProtKB/Swiss-Prot:

HECD1_HUMAN :
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Belongs to the UPL family. K-HECT subfamily.
  • Contains 4 ANK repeats.
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 1 MIB/HERC2 domain.
Family:
  • Belongs to the UPL family. K-HECT subfamily.
Similarity:
  • Contains 4 ANK repeats.
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:
Probable 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. May be required for development of the head mesenchyme 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:0004842 ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 12421765
GO:0016740 transferase activity IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for HECTD1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

Gene Ontology (GO) - Cellular Components for HECTD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
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 --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with HECTD1: view

No data available for SIGNOR curated interactions for HECTD1 Gene

Transcripts for HECTD1 Gene

Unigene Clusters for HECTD1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with HECTD1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HECTD1 35
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HECTD1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HECTD1 34 35
  • 95.15 (n)
cow
(Bos Taurus)
Mammalia HECTD1 34 35
  • 95.07 (n)
mouse
(Mus musculus)
Mammalia Hectd1 34 16 35
  • 91.85 (n)
rat
(Rattus norvegicus)
Mammalia Hectd1 34
  • 91.71 (n)
chicken
(Gallus gallus)
Aves HECTD1 34 35
  • 86.49 (n)
lizard
(Anolis carolinensis)
Reptilia HECTD1 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hectd1 34
  • 75.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19091 34
zebrafish
(Danio rerio)
Actinopterygii hectd1 34 34 35
  • 76.18 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1384 34
fruit fly
(Drosophila melanogaster)
Insecta CG5604 34 35
  • 57.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009511 34
  • 54.35 (n)
worm
(Caenorhabditis elegans)
Secernentea hecd-1 34 35
  • 53.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UFD4 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1003 35
  • 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 Sequence Context AA Info Type
rs10130109 -- 31,152,410(+) GGCTC(A/G)AATTC intron-variant
rs10130310 -- 31,206,991(+) CCCAG(C/T)ACCAA intron-variant, upstream-variant-2KB
rs10130383 -- 31,176,834(+) cagga(A/G)gctaa intron-variant
rs10133173 -- 31,130,355(+) TATTA(A/G)AACTA intron-variant
rs10136065 -- 31,154,012(+) tcaca(C/T)tttct intron-variant

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

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

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)

Relevant External Links for HECTD1 Gene

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

Relevant External Links for HECTD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Res. 1999) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 Res. 2002) 3 4 64
  4. System-Wide Modulation of HECT E3 Ligases with Selective Ubiquitin Variant Probes. (PMID: 26949039) Zhang W. … Sidhu S.S. (Mol. Cell 2016) 3 64
  5. FBXW7 modulates cellular stress response and metastatic potential through a88HSF1 post-translational modification. (PMID: 25720964) Kourtis N. … Aifantis I. (Nat. Cell Biol. 2015) 3 64

Products for HECTD1 Gene

Sources for HECTD1 Gene

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