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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HACE1 Gene

protein-coding   GIFtS: 57
GCID: GC06M105221

HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase
11 2
     HECT Domain And Ankyrin Repeat Containing, E3 Ubiquitin Protein Ligase 12
HECT Domain And Ankyrin Repeat-Containing E3 Ubiquitin-Protein Ligase 12 3     EC 6.3.2.-3
KIAA13203 5     HACE5
E3 Ubiquitin-Protein Ligase HACE12     EC 6.3.28

External Ids:    HGNC: 210331   Entrez Gene: 575312   Ensembl: ENSG000000853827   OMIM: 6108765   UniProtKB: Q8IYU23   

Export aliases for HACE1 gene to outside databases

Previous GC identifers: GC06M105176 GC06M105282 GC06M102619


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HACE1 Gene: 
HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1) is a protein-coding gene. Diseases associated with HACE1 include obsessive-compulsive disorder, and wilms tumor. GO annotations related to this gene include ubiquitin-protein ligase activity and Rac GTPase binding. An important paralog of this gene is UBR5.

UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
Function: E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a
regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and
regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly,
ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with
GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in
host defense against pathogens. May also act as a transcription regulator via its interaction with RARB




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HACE1 gene promoter:
         NRSF form 1   NRSF form 2   AP-2gamma   C/EBPalpha   Evi-1   S8   E2F-1   E2F   c-Myb   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHACE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HACE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HACE1


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

Entrez Gene cytogenetic band: 6q16.3   Ensembl cytogenetic band:  6q16.3   HGNC cytogenetic band: 6q21

HACE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HACE1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M105221:  view genomic region     (about GC identifiers)

Start:
105,175,968 bp from pter      End:
105,307,794 bp from pter
Size:
131,827 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase HACE1  
Size: 909 amino acids; 102342 Da
Subunit: Interacts with RARB (By similarity). Interacts with RAB1 (RAB1A, RAB1B or RAB1C), RAB4 (RAB4A or RAB4B)
and RAB11 (RAB11A or RAB11B); in a GTP-dependent manner. Interacts with RAC1; in a GTP-dependent manner.
Interacts with the 26S proteasomal complex through the 20S core proteasomal subunit
Subcellular location: Golgi apparatus, Golgi stack membrane. Cytoplasm. Endoplasmic reticulum. Note=A significant
portion localizes to the endoplasmic reticulum. Targeted to Golgi membrane via its interaction with Rab proteins
Developmental stage: Expressed in fetal and pediatric kidney cells
Sequence caution: Sequence=BAA92558.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAG57487.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG62066.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAH14462.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAH71890.1; Type=Erroneous gene model prediction;
Sequence=CAH74024.1; Type=Erroneous gene model prediction; Sequence=CAI16815.1; Type=Erroneous gene model
prediction;
Secondary accessions: A8K6U5 B3KY89 B4DFM6 B4DTQ4 B7Z9X6 E9PGP0 Q5VU99 Q5VUA0 Q8ND12 Q9P2M6
Alternative splicing: 4 isoforms:  Q8IYU2-1   Q8IYU2-2   Q8IYU2-3   Q8IYU2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HACE1: NX_Q8IYU2

Explore proteomics data for HACE1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYU2

  • 4/5 DME Specific Peptides for HACE1 (Q8IYU2) (see all 5)
     LPTSSTC  TFSVETD  LLQFVTGSSRVP  YFTRSFYKHILG 

    HACE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HACE1 Protein Expression
    REFSEQ proteins: NP_065822.2  
    ENSEMBL proteins: 
     ENSP00000262903   ENSP00000392425   ENSP00000358121   ENSP00000428110   ENSP00000429520  
     ENSP00000430898   ENSP00000429765   ENSP00000427901   ENSP00000430669  

    Human Recombinant Protein Products for HACE1: 
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    OriGene Protein Over-expression Lysate for HACE1
    OriGene MassSpec for HACE1 
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    Novus Biologicals HACE1 Protein
    Novus Biologicals HACE1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HACE1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA--
    GO:0005634nucleus IBA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0032580Golgi cisterna membrane IEA--

    HACE1 for ontologies           About GeneDecksing



    HACE1 Antibody Products: 
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    Novus Biologicals HACE1 Antibodies
    Abcam antibodies for HACE1
    Cloud-Clone Corp. Antibodies for HACE1 
    Search ThermoFisher Antibodies for HACE1
    LSBio Antibodies in human, mouse, rat for HACE1 

    Assay Products for HACE1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for HACE1 
    Cloud-Clone Corp. CLIAs for HACE1


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

    3 InterPro protein domains:
     IPR000569 HECT
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8IYU2

    ProtoNet protein and cluster: Q8IYU2

    2 Blocks protein domains:
    IPB000569 HECT domain (Ubiquitin-protein ligase)
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain


    HACE1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HACE1_HUMAN, Q8IYU2
    Function: E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a
    regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and
    regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly,
    ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with
    GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in
    host defense against pathogens. May also act as a transcription regulator via its interaction with RARB
    Induction: Down-regulated in sporadic Wilms tumor

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005515protein binding ----
    GO:0017137Rab GTPase binding IDA--
    GO:0048365Rac GTPase binding IPI--
         
    HACE1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for HACE1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras  Synthetic lethal with paclitax  Upregulation of Wnt/beta-caten 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Hace1):
     tumorigenesis 

    HACE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hace1tm1Pngr for HACE1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HACE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HACE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HACE1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HACE1 

    miRNA
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    hsa-miR-4317 hsa-miR-3673 hsa-miR-199b-3p hsa-miR-522 hsa-miR-199a-3p hsa-miR-485-3p hsa-miR-3129-5p hsa-miR-410
    SwitchGear 3'UTR luciferase reporter plasmidHACE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of HACE1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HACE1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HACE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    2SMAD Signaling Network
    SMAD Signaling Network

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HACE1
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis


    UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HACE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for HACE1 (Q8IYU23 ENSP000002629034) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLXNA2O750513, ENSP000003560004I2D: score=2 STRING: ENSP00000356000
    IRF7Q929853, ENSP000003294114I2D: score=1 STRING: ENSP00000329411
    RAC1P630003, ENSP000003484614I2D: score=1 STRING: ENSP00000348461
    RAB4AP203383, ENSP000003556514I2D: score=1 STRING: ENSP00000355651
    RARAENSP000002540664STRING: ENSP00000254066
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0007030Golgi organization IDA--
    GO:0007049cell cycle IEA--
    GO:0016567protein ubiquitination IDA--

    HACE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HACE1

    Search CenterWatch for drugs/clinical trials and news about HACE1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HACE1 gene: 
    NM_020771.3  

    Unigene Cluster for HACE1:

    HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
    Hs.434340  [show with all ESTs]
    Unigene Representative Sequence: AB037741
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262903(uc010kcx.1 uc003pqu.1 uc010kcz.1) ENST00000369127(uc003pqt.1)
    ENST00000517995 ENST00000416605(uc010kcy.1) ENST00000369125 ENST00000518402
    ENST00000518503 ENST00000518228 ENST00000517424 ENST00000519645 ENST00000524020
    ENST00000521962
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HACE1
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate HACE1 (see all 21):
    hsa-miR-4317 hsa-miR-3673 hsa-miR-199b-3p hsa-miR-522 hsa-miR-199a-3p hsa-miR-485-3p hsa-miR-3129-5p hsa-miR-410
    SwitchGear 3'UTR luciferase reporter plasmidHACE1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HACE1 (NM_020771)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HACE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HACE1
    Sirion Biotech Customized lentivirus for stable overexpression of HACE1 
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    Primer
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    OriGene qPCR primer pairs and template standards for HACE1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HACE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HACE1

    Additional mRNA sequence: 

    AB037741.1 AJ420474.1 AK124268.1 AK131207.1 AK291760.1 AK292683.1 AK294164.1 AK300314.1 
    AK311633.1 AK316091.1 AL834202.1 BC034982.2 BC038119.1 BC041919.1 

    7 DOTS entries:

    DT.441135  DT.102825254  DT.101982466  DT.75198210  DT.100749435  DT.95333293  DT.100671861 

    24/69 AceView cDNA sequences (see all 69):

    BC034982 AB037741 CA450182 AI872447 BU622562 NM_020771 BC041919 AA678428 
    AL834202 BM904923 AA321932 AL706627 CA943195 BM557240 BG181830 BM739238 
    BQ268728 BI597053 AW317008 BU570591 BU172263 BI602366 BF439293 BX954316 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HACE1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
    SP1:                                                                          -                                                                       -         
    SP2:                                                                          -                       -     -     -     -     -                       -         
    SP3:                                                                                                                                                  -         
    SP4:                                                                                                                                                            

    ExUns: 24a · 24b · 24c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  


    ECgene alternative splicing isoforms for HACE1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HACE1 expression in normal human tissues (normalized intensities)      HACE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTTAGGA
    HACE1 Expression
    About this image


    HACE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Limb (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod

    See HACE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HACE1

    SOURCE GeneReport for Unigene cluster: Hs.434340

    UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
    Tissue specificity: Expressed in multiple tissues including heart, brain and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including HACE1: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HACE1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HACE1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HACE1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hace11 , 5 HECT domain and ankyrin repeat containing, E3 ubiquitin more1, 5 90.98(n)1
    97.14(a)1
      10 (23.65 cM)5
    2094621  NM_172473.31  NP_766061.21 
     455778295 
    chicken
    (Gallus gallus)
    Aves HACE11 HECT domain and ankyrin repeat containing, E3 ubiquitin more 84.06(n)
    94.28(a)
      421788  NM_001031078.1  NP_001026249.1 
    lizard
    (Anolis carolinensis)
    Reptilia HACE16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    GL343430.1(343032-407530)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.228912 Xenopus laevis transcribed sequence with weak similarity more 81.71(n)    BJ035370.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5724301 e3 ubiquitin-protein ligase HACE1-like 74.12(n)
    88.03(a)
      572430  XM_696143.5  XP_701235.5 


    ENSEMBL Gene Tree for HACE1 (if available)
    TreeFam Gene Tree for HACE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HACE1 gene
    UBR52  AREL12  
    18/30 SIMAP similar genes for HACE1 using alignment to 9 protein entries:     HACE1_HUMAN (see all proteins) (see all similar genes):
    UBE3A    HECW1    RAI14    WWP1    UACA    INVS
    ANKRD44    ANKRD54    CASKIN2    DKFZp761E1322    MTPN    UBR5
    HUWE1    PSMD10    HECTD1    SMURF2    ANKDD1A    CDKN2C

    HACE1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2499 SNPs in HACE1 are shown (see all 2499)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809773941,2
    --102619248(+) CACACA/GTATGT 1 -- ds50010--------
    rs1888081421,2
    --105174243(+) TATACA/GAATAT 1 -- ds50010--------
    rs716635781,2
    C--105174245(+) TACGA-/ATATATA 1 -- ds50010--------
    rs2010002631,2
    C--105174273(+) ATACG-/ATTATAT 1 -- ds50010--------
    rs1165673821,2
    C,F--105174296(+) TATACA/GAATAT 1 -- ds50013Minor allele frequency- G:0.43WA NA EA 358
    rs1930548261,2
    --105174326(+) TATATA/GAATAC 1 -- ds50010--------
    rs1506839791,2
    --105174331(+) GAATAC/TACACA 1 -- ds50010--------
    rs1852324531,2
    --105174366(+) CACACA/GTATAT 1 -- ds50010--------
    rs1997892721,2
    C--105174366(+) CACAC-/ATATATG 1 -- ds50010--------
    rs1162284591,2
    C,F--105174389(+) ACACAT/CATGTA 1 -- ds50011Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for HACE1 (105175968 - 105307794 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for HACE1 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2732530CNV Deletion23290073
    esv2664784CNV Deletion23128226
    esv2518204CNV Deletion19546169
    esv2732531CNV Deletion23290073
    esv1963512CNV Deletion18987734
    esv2463529CNV Deletion19546169
    nsv5423CNV Insertion18451855
    esv27932CNV Loss19812545
    nsv5420CNV Loss18451855
    nsv7949CNV Loss18304495


    Human Gene Mutation Database (HGMD): HACE1
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing HACE1:
    Prostate Cancer
    SeqTarget long-range PCR primers for resequencing HACE1
    DNA2.0 Custom Variant and Variant Library Synthesis for HACE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610876    OMIM disorders: --

    UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
  • Note=Defects in HACE1 are a cause of Wilms tumor (WT). WT is a pediatric malignancy of kidney and one of
    the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor.
    Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral,
    young-onset Wilms tumor

  • 5 diseases for HACE1:    About MalaCards
    obsessive-compulsive disorder    wilms tumor    celiac disease    neuroblastoma
    colorectal cancer


    HACE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HACE1
    Human Genome Epidemiology (HuGE) Navigator: HACE1 (2 documents)

    Export disorders for HACE1 gene to outside databases

    (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)
    About This Section

    PubMed articles for HACE1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with HACE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Differential expression of a novel ankyrin containing E3 ubiquitin- protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney. (PubMed id 15254018)1, 2, 9 Anglesio M.S....Sorensen P.H.B. (2004)
    3. The E3 ubiquitin-ligase HACE1 catalyzes the ubiquitylation of active Rac1. (PubMed id 22036506)1, 2 Torrino S.... Lemichez E. (2011)
    4. The ubiquitin ligase HACE1 regulates Golgi membrane dynamics during the cell cycle. (PubMed id 21988917)1, 2 Tang D....Wang Y. (2011)
    5. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    6. Genome-wide association study identifies sequence var iants on 6q21 associated with age at menarche. (PubMed id 19448622)1, 4 Sulem P....Stefansson K. (2009)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    8. The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers. (PubMed id 17694067)1, 2 Zhang L....Penninger J.M. (2007)
    9. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)1, 4 Hwang S.J....Fox C.S. (2007)
    10. 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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57531 HGNC: 21033 AceView: HACE1 Ensembl:ENSG00000085382 euGenes: HUgn57531
    ECgene: HACE1 H-InvDB: HACE1

    (According to HUGE)
    About This Section
    HUGE: KIAA1320

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HACE1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HACE1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HACE1 gene:
    Search GeneIP for patents involving HACE1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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