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    HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase [ Homo sapiens (human) ]

    Gene ID: 10075, updated on 22-Apr-2017
    Official Symbol
    HUWE1provided by HGNC
    Official Full Name
    HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:30892
    See related
    Ensembl:ENSG00000086758 MIM:300697; Vega:OTTHUMG00000021617
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MULE; Ib772; LASU1; UREB1; HECTH9; URE-B1; ARF-BP1; HSPC272
    Summary
    This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013]
    Orthologs
    Location:
    Xp11.22
    Exon count:
    91
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (53532096..53686729, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53559057..53713697, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TIMELESS interacting protein pseudogene Neighboring gene vault RNA 3-1, pseudogene Neighboring gene microRNA let-7f-2 Neighboring gene microRNA 98 Neighboring gene 39S ribosomal protein L32, mitochondrial pseudogene Neighboring gene mitochondrial ribosomal protein S18C pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase (HUWE1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Gag-Pol gag-pol Co-immunoprecipitation shows interaction of HIV-1 Gag-Pol with Huwe1 through IN domain (residues 1148-1435) PubMed
    Rev rev HIV-1 Rev interacting protein, HECT, UBA and WWE domain containing 1 (HUWE1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
    Vif vif HIV-1 Vif is identified to have a physical interaction with HECT, UBA and WWE domain containing 1 (HUWE1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    integrase gag-pol Co-immunoprecipitation shows interaction of HIV-1 IN with Huwe1 through the CCD domain of IN PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase (HUWE1) at amino acid residues 3686-3687 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional activation, organism-specific biosystem
      Validated targets of C-MYC transcriptional activation
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0312

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin-protein transferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    base-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    histone ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    E3 ubiquitin-protein ligase HUWE1
    Names
    ARF-binding protein 1
    BJ-HCC-24 tumor antigen
    HECT domain protein LASU1
    HECT-type E3 ubiquitin transferase HUWE1
    Mcl-1 ubiquitin ligase E3
    URE-binding protein 1
    homologous to E6AP carboxyl terminus homologous protein 9
    large structure of UREB1
    upstream regulatory element-binding protein 1
    NP_113584.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016261.2 RefSeqGene

      Range
      5005..159638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_031407.6NP_113584.3  E3 ubiquitin-protein ligase HUWE1

      See identical proteins and their annotated locations for NP_113584.3

      Status: REVIEWED

      Source sequence(s)
      AB002310, AC231658, AY772009, BG334536, BX323845, DQ097177, R60532
      Consensus CDS
      CCDS35301.1
      UniProtKB/Swiss-Prot
      Q7Z6Z7
      UniProtKB/TrEMBL
      A0A024R9W5
      Related
      ENSP00000262854.6, ENST00000262854.10
      Conserved Domains (7) summary
      smart00119
      Location:40434371
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:40194372
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd14288
      Location:13171356
      UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
      pfam02825
      Location:16171678
      WWE; WWE domain
      pfam06012
      Location:92367
      DUF908; Domain of Unknown Function (DUF908)
      pfam06025
      Location:430814
      DUF913; Domain of Unknown Function (DUF913)
      pfam14377
      Location:29683077
      DUF4414; Domain of unknown function (DUF4414)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      53532096..53686729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530747.1XP_011529049.1  E3 ubiquitin-protein ligase HUWE1 isoform X9

      See identical proteins and their annotated locations for XP_011529049.1

      Conserved Domains (7) summary
      smart00119
      Location:41264454
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:41024455
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd14288
      Location:14001439
      UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
      pfam02825
      Location:17001761
      WWE; WWE domain
      pfam06012
      Location:92367
      DUF908; Domain of Unknown Function (DUF908)
      pfam06025
      Location:430897
      DUF913; Domain of Unknown Function (DUF913)
      pfam14377
      Location:30513160
      DUF4414; Domain of unknown function (DUF4414)
    2. XM_017029199.1XP_016884688.1  E3 ubiquitin-protein ligase HUWE1 isoform X8

    3. XM_017029202.1XP_016884691.1  E3 ubiquitin-protein ligase HUWE1 isoform X8

    4. XM_017029200.1XP_016884689.1  E3 ubiquitin-protein ligase HUWE1 isoform X8

    5. XM_005261965.3XP_005262022.1  E3 ubiquitin-protein ligase HUWE1 isoform X12

      See identical proteins and their annotated locations for XP_005262022.1

      UniProtKB/Swiss-Prot
      Q7Z6Z7
      UniProtKB/TrEMBL
      A0A024R9W5
      Related
      ENSP00000340648.3, OTTHUMP00000023356, ENST00000342160.7, OTTHUMT00000056766
      Conserved Domains (7) summary
      smart00119
      Location:40434371
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:40194372
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd14288
      Location:13171356
      UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
      pfam02825
      Location:16171678
      WWE; WWE domain
      pfam06012
      Location:92367
      DUF908; Domain of Unknown Function (DUF908)
      pfam06025
      Location:430814
      DUF913; Domain of Unknown Function (DUF913)
      pfam14377
      Location:29683077
      DUF4414; Domain of unknown function (DUF4414)
    6. XM_017029198.1XP_016884687.1  E3 ubiquitin-protein ligase HUWE1 isoform X8

    7. XM_017029203.1XP_016884692.1  E3 ubiquitin-protein ligase HUWE1 isoform X8

    8. XM_011530751.2XP_011529053.1  E3 ubiquitin-protein ligase HUWE1 isoform X9

      See identical proteins and their annotated locations for XP_011529053.1

      Conserved Domains (7) summary
      smart00119
      Location:41264454
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:41024455
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd14288
      Location:14001439
      UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
      pfam02825
      Location:17001761
      WWE; WWE domain
      pfam06012
      Location:92367
      DUF908; Domain of Unknown Function (DUF908)
      pfam06025
      Location:430897
      DUF913; Domain of Unknown Function (DUF913)
      pfam14377
      Location:30513160
      DUF4414; Domain of unknown function (DUF4414)
    9. XM_017029201.1XP_016884690.1  E3 ubiquitin-protein ligase HUWE1 isoform X8

    10. XM_017029205.1XP_016884694.1  E3 ubiquitin-protein ligase HUWE1 isoform X11

    11. XM_017029193.1XP_016884682.1  E3 ubiquitin-protein ligase HUWE1 isoform X3

    12. XM_017029196.1XP_016884685.1  E3 ubiquitin-protein ligase HUWE1 isoform X6

    13. XM_017029192.1XP_016884681.1  E3 ubiquitin-protein ligase HUWE1 isoform X2

    14. XM_017029206.1XP_016884695.1  E3 ubiquitin-protein ligase HUWE1 isoform X13

    15. XM_017029197.1XP_016884686.1  E3 ubiquitin-protein ligase HUWE1 isoform X7

    16. XM_017029195.1XP_016884684.1  E3 ubiquitin-protein ligase HUWE1 isoform X5

    17. XM_017029194.1XP_016884683.1  E3 ubiquitin-protein ligase HUWE1 isoform X4

    18. XM_017029191.1XP_016884680.1  E3 ubiquitin-protein ligase HUWE1 isoform X1

    19. XM_017029204.1XP_016884693.1  E3 ubiquitin-protein ligase HUWE1 isoform X10

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      53550037..53704948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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