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HECTD1 Gene

protein-coding   GIFtS: 49
GCID: GC14M031569

HECT Domain Containing E3 Ubiquitin Protein Ligase 1

(Previous name: HECT domain containing 1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
HECT Domain Containing E3 Ubiquitin Protein Ligase 11 2     HECT Domain-Containing Protein 12 3
HECT Domain Containing 11 2     E3 Ubiquitin-Protein Ligase HECTD12
EULIR2 3     EC 6.3.2.-3
E3 Ligase For Inhibin Receptor2 3     KIAA11313

External Ids:    HGNC: 201571   Entrez Gene: 258312   Ensembl: ENSG000000921487   UniProtKB: Q9ULT83   

Export aliases for HECTD1 gene to outside databases

Previous GC identifers: GC14M025356 GC14M029559 GC14M030639 GC14M011686


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HECTD1 Gene:
HECTD1 (HECT domain containing E3 ubiquitin protein ligase 1) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is TRIP12.

UniProtKB/Swiss-Prot: HECD1_HUMAN, Q9ULT8
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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the HECTD1 gene promoter:
         FOXD3   AP-2gamma   HEN1   POU2F1   POU2F1a   Chx10   AP-2beta   AP-2alpha   ATF   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHECTD1 promoter sequence
   Search Chromatin IP Primers for HECTD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HECTD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q12

HECTD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HECTD1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M031569:  view genomic region     (about GC identifiers)

Start:
31,569,318 bp from pter      End:
31,677,010 bp from pter
Size:
107,693 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HECD1_HUMAN, Q9ULT8 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase HECTD1  
Size: 2610 amino acids; 289384 Da
Subunit: Interacts with IGSF1
3 PDB 3D structures from and Proteopedia for HECTD1:
2DK3 (3D)        2LC3 (3D)        3DKM (3D)    
Secondary accessions: D3DS86 Q6P445 Q86VJ1 Q96F34 Q9UFZ7

Explore the universe of human proteins at neXtProt for HECTD1: NX_Q9ULT8

Explore proteomics data for HECTD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys229, Lys255, Lys522, Lys1272, Lys1287, Lys1371, Lys1768, Lys1919, Lys2268, Lys2605
  • Modification sites at PhosphoSitePlus

  • See HECTD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056197.2  
    ENSEMBL proteins: 
     ENSP00000451260   ENSP00000450697   ENSP00000451860   ENSP00000450920   ENSP00000452233  
     ENSP00000452015   ENSP00000382269  

    HECTD1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HECTD1

     
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    Abcam antibodies for HECTD1
    Cloud-Clone Corp. Antibodies for HECTD1
    Search ThermoFisher Antibodies for HECTD1
    LSBio Antibodies in human, mouse, rat for HECTD1

    HECTD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for HECTD1
    Cloud-Clone Corp. CLIAs for HECTD1
    Search eBioscience for ELISAs for HECTD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    Selected InterPro protein domains (see all 8):
     IPR012919 Sad1_UNC_C
     IPR011989 ARM-like
     IPR000569 HECT
     IPR002110 Ankyrin_rpt
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry Q9ULT8

    ProtoNet protein and cluster: Q9ULT8

    3 Blocks protein domains:
    IPB000569 HECT domain (Ubiquitin-protein ligase)
    IPB010606 Mib_herc2
    IPB012919 Sad1/UNC-like


    UniProtKB/Swiss-Prot: HECD1_HUMAN, Q9ULT8
    Similarity: Belongs to the UPL family. K-HECT subfamily
    Similarity: Contains 4 ANK repeats
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 1 MIB/HERC2 domain


    Find genes that share domains with HECTD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HECD1_HUMAN, Q9ULT8
    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 (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
    GO:0005488binding ----
    GO:0005515protein binding IPI12421765
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with HECTD1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for HECTD1:
     Increased HPV18 LCR reporter a  Increased homologous recombina 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hectd1):
     cardiovascular system  craniofacial  embryogenesis  mortality/aging  nervous system 
     skeleton  vision/eye 

    Find genes that share phenotypes with HECTD1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HECTD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HECTD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HECTD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HECTD1

    miRNA
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    miRTarBase miRNAs that target HECTD1:
    hsa-mir-21-5p (MIRT030921), hsa-mir-221-3p (MIRT046899), hsa-mir-335-5p (MIRT018159), hsa-mir-210-3p (MIRT003177), hsa-mir-30a-5p (MIRT028576)

    Block miRNA regulation of human, mouse, rat HECTD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HECTD1 (see all 42):
    hsa-miR-300 hsa-miR-1224-3p hsa-miR-15a hsa-miR-200a hsa-miR-128 hsa-miR-503 hsa-miR-374a hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidHECTD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HECTD1
    Predesigned siRNA for gene silencing in human, mouse, rat HECTD1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for HECTD1

    Clone
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    OriGene clones in human, mouse for HECTD1 (see all 5)
    OriGene ORF clones in mouse, rat for HECTD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HECTD1 (NM_015382)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HECTD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HECTD1
    Addgene plasmids for HECTD1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HECTD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECTD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IBA--

    Find genes that share ontologies with HECTD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: HECD1_HUMAN, Q9ULT8
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including HECTD1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HECTD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HECTD1 (Q9ULT82, 3 ENSP000003822694) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZRANB1Q9UGI03, ENSP000003526764I2D: score=2 STRING: ENSP00000352676
    UVRAGQ9P2Y53, ENSP000003484554I2D: score=1 STRING: ENSP00000348455
    IGSF1Q8N6C53, ENSP000003550104I2D: score=3 STRING: ENSP00000355010
    DDX56Q9NY933, ENSP000002587724I2D: score=1 STRING: ENSP00000258772
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IEA--
    GO:0007155cell adhesion ----
    GO:0016567protein ubiquitination ----
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA--

    Find genes that share ontologies with HECTD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HECTD1 (HECD1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HECTD1 gene: 
    NM_015382.2  

    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554882 ENST00000555843(uc001wra.1) ENST00000553700(uc001wrb.1 uc001wrd.1)
    ENST00000556281 ENST00000557695 ENST00000555311 ENST00000553957 ENST00000557321
    ENST00000554027 ENST00000555915 ENST00000556004 ENST00000557369 ENST00000554850
    ENST00000556224 ENST00000554471 ENST00000553616 ENST00000556474(uc001wre.3)
    ENST00000399332(uc001wrc.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HECTD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HECTD1 (see all 42):
    hsa-miR-300 hsa-miR-1224-3p hsa-miR-15a hsa-miR-200a hsa-miR-128 hsa-miR-503 hsa-miR-374a hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidHECTD1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for HECTD1
    Predesigned siRNA for gene silencing in human, mouse, rat HECTD1
    Clone
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    OriGene clones in human, mouse for HECTD1 (see all 5)
    OriGene ORF clones in mouse, rat for HECTD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HECTD1 (NM_015382)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HECTD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HECTD1
    Addgene plasmids for HECTD1 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HECTD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HECTD1
      QuantiTect SYBR Green Assays in human, mouse, rat HECTD1
      QuantiFast Probe-based Assays in human, mouse, rat HECTD1

    Selected AceView cDNA sequences (see all 307):

    AA716179 BU101681 BQ027113 AW167166 CB127184 CN480663 AI687674 BU156007 
    BU623991 BM995566 CB136369 CB250448 BQ446095 AL699409 AB032957 BG427260 
    CD106947 BC016947 BF724940 AI141536 BM463925 AL110222 AI628442 AW502290 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HECTD1 (see all 10)    About this scheme

    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:                                                                                -     -                 -                                                   

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


    ECgene alternative splicing isoforms for HECTD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HECTD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCAAACTT
    HECTD1 Expression
    About this image


    HECTD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thyroid (Endocrine System)
     
     Testis (Reproductive System)
     
     Esophagus (Gastrointestinal Tract)
    HECTD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HECTD1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including HECTD1: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HECTD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HECTD1
    QuantiTect SYBR Green Assays in human, mouse, rat HECTD1
    QuantiFast Probe-based Assays in human, mouse, rat HECTD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECTD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HECTD1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hectd11 , 5 HECT domain containing 11, 5 91.85(n)1
    98.89(a)1
      12 (22.11 cM)5
    2073041  NM_144788.21  NP_659037.21 
     517437225 
    chicken
    (Gallus gallus)
    Aves HECTD11 HECT domain containing E3 ubiquitin protein ligase more 86.49(n)
    97.08(a)
      423310  XM_421227.4  XP_421227.3 
    lizard
    (Anolis carolinensis)
    Reptilia HECTD16
    HECT domain containing E3 ubiquitin protein ligase...
    96(a)
    1 ↔ 1
    2(56893451-56969242)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.190912 Xenopus laevis transcribed sequence with moderate similarity more 75.12(n)    BX847405.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hectd12 HECT domain containing 1 76.25(n)   368729  57052289 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56041 CG5604 57.95(n)
    61(a)
      34378  NM_135525.1  NP_609369.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hecd-11 hecd-1 53.28(n)
    49.67(a)
      177486  NM_068719.3  NP_501120.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UFD46
    Ubiquitin-protein ligase (E3) that interacts with ...
    20(a)
    1 → many
    XI(421424-425875) YKL010C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HECTD1 gene
    TRIP122  
    11 SIMAP similar genes for HECTD1 using alignment to 8 protein entries:     HECD1_HUMAN (see all proteins):
    NEDD4L    NEDD4    HACE1    SMURF2    UBE3C    AREL1
    GABPB1    ANKRD54    UBE3A    HECTD2    HUWE1

    Find genes that share paralogs with HECTD1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HECTD1 (see all 2351)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1882545981,2
    --31568896(+) CTGGAA/TTTTGG 1 -- ds50010--------
    rs1484953931,2
    --31568904(+) TGGAAA/GATCTA 1 -- ds50010--------
    rs1418446541,2
    --31568955(+) AAACAC/GCGGTA 1 -- ds50010--------
    rs1170121751,2
    F--31568957(+) ACAGCG/AGTATC 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs2002173641,2
    --31569065(+) TGGTG-/TTTTTT 1 -- ds50010--------
    rs101378521,2
    C,F,A,H--31569071(+) TTTTTA/TAAAAA 1 -- ds50018Minor allele frequency- T:0.46NA WA EA 368
    rs2010590781,2
    --31569071(+) TTTTT-/AAAAAA 1 -- ds50010--------
    rs1506319931,2
    --31569229(+) AGTAAC/TTTCAG 1 -- ds50010--------
    rs1814319071,2
    --31569273(+) GCTAAA/GGCTCT 1 -- ds50010--------
    rs37429211,2
    C,F,H--31569385(+) TCAAAC/TGGCAA 1 -- ut3112Minor allele frequency- T:0.05NS EA NA 1070

    HapMap Linkage Disequilibrium report for HECTD1 (31569318 - 31677010 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HECTD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1234CNV Insertion18451855
    nsv901587CNV Loss21882294
    nsv832763CNV Loss17160897
    nsv901588CNV Loss21882294
    esv33189CNV Loss17666407
    nsv901581CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HECTD1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HECTD1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with HECTD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 1999)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1, 2 Nakayama M.... Ohara O. (Genome Res. 2002)
    4. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    5. HectD1 E3 ligase modifies adenomatous polyposis coli (APC) with polyubiquitin to promote the APC-axin interaction. (PubMed id 23277359)1 Tran H....Polakis P. (J. Biol. Chem. 2013)
    6. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    7. 14-3-3 proteins sequester a pool of soluble TRIM32 ubiquitin ligase to repress autoubiquitylation and cytoplasmic body formation. (PubMed id 23444366)1 Ichimura T....Hachiya N. (J. Cell. Sci. 2013)
    8. Shotgun proteomics and network analysis of ubiquitin-related proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (Mol. Cell. Biochem. 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25831 HGNC: 20157 AceView: HECTD1 Ensembl:ENSG00000092148 euGenes: HUgn25831
    ECgene: HECTD1 H-InvDB: HECTD1

    (According to HUGE)
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    HUGE: KIAA1131

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HECTD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HECTD1 gene:
    Search GeneIP for patents involving HECTD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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