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FLASH GENE
Symbol HECTD1 contributors: mct - updated : 29-08-2018
HGNC name HECT domain containing 1
HGNC id 20157
Location 14q12      Physical location : 31.569.323 - 31.676.689
Synonym name E3 ligase for inhibin receptor
Synonym symbol(s) KIAA1131, EULIR, FLJ38315
EC.number 2.3.2.26
DNA
TYPE functioning gene
STRUCTURE 107.37 kb     43 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
CBPINP 14q12 CCNDBP1 interactor pseudogene KIAA1333 14q12 KIAA1333 C14orf163 14q12 chromosome 14 open reading frame 163 UBE2CP1 14 ubiquitin-conjugating enzyme E2C pseudogene 1 RPL12P5 14 ribosomal protein L12 pseudogene 5 RPL27P1 14 ribosomal protein L27 pseudogene 1 COCH 14q12-q13 coagulation factor C homolog, cochlin (Limulus polyphemus) STRN3 14q13-q21 striatin, calmodulin binding protein 3 AP4S1 14q12 adaptor-related protein complex 4, sigma 1 subunit HECTD1 14q12 HECT domain containing 1 NARSP 14 asparaginyl-tRNA synthetase pseudogene C14orf125 14 chromosome 14 open reading frame 125 ATP5GP4 14q12 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4 LOC387979 14 similar to RIKEN cDNA D930036F22 gene LOC387980 14 LOC387980 C14orf126 14 chromosome 14 open reading frame 126 GPR33 14q12 G protein-coupled receptor 33, pseudogene C14orf127 14 chromosome 14 open reading frame 127 LOC387981 14 LOC387981 C14orf128 14 chromosome 14 open reading frame 128 ARHGAP5 14q11-q12 Rho GTPase activating protein 5
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
43 - 9192 289.25 2610 - 2018 29306077
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemplacenta    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one HECT domain
  • HOMOLOGY
    Homologene
    FAMILY
  • UPL family
  • K-HECT subfamily
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text
  • in trophoblast giant cells (TGCs) and other trophoblast-derived cell subtypes in the junctional and labyrinth zones of the placenta
  • basic FUNCTION
  • involved in protein modification, ubiquitin cycle
  • HECTD1 function is required at a critical threshold for neural tube closure
  • is a functional ubiquitin ligase
  • HECTD1 promotes the APC-AXIN1 interaction to negatively regulate WNT signaling
  • is required for development of multiple cell types within the junctional zone of the placenta
  • is involved in ABCA1-mediated cholesterol export from macrophages
  • control of MACF1 levels by HECTD1 modulates likely epithelial-to-mesenchymal transition (EMT) and the efficiency of metastasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • substrates of HSP90AA1
  • Condensins positively regulate ligand-dependent enhancer activation at least in part by recruiting HECTD1, to modulate the binding of enhancer-associated coactivators/corepressors, including NRIP1
  • regulates the protein level of IQGAP1 through ubiquitination and therefore mediates the dynamics of focal complexes (FXs) including the recruitment of paxillin and actinin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    results in mid-gestation lethality and intrauterine growth restriction (IUGR)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS