Gene content    
HACE1 ( by HUGO)
HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein...
Tumor suppressor gene
HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1
KIAA1320
E3 Ubiquitin-Protein Ligase HACE1
EC 6.3.2.-
HECT Domain And Ankyrin Repeat-Containing E3 Ubiquitin-Protein Ligase 1
HACE
EC 6.3.2
NCBI: 6q16.3    Ensembl: 6q16.3
HACE1_HUMANSize: 909 amino acidsMass: 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 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;
  • Tissue specificity: Expressed in multiple tissues including heart, brain and kidney [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Array including HACE1: Ubiquitin Ligases in human mouse rat Primer Products: [IMAGE] OriGene qPCR primer pairs and template standards for HA
  • 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
  • Similarity:
    Contains 6 ANK repeats
                          
    Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000569HECTHECTDomain
    IPR002110Ankyrin_rptAnkyrinRepeat
    BlocksIPB000569HECT domain (Ubiquitin-protein ligase) IPB002110 Ankyrin repeat signatureHECT domain (Ubiquitin-protein ligase)
    IPB000569HECT domain (Ubiquitin-protein ligase)HECT domain (Ubiquitin-protein ligase)

    Disorder & Mutation    
    Source Disease
    SWISS-PROTNote=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

    HACE1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene