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    Hectd1 HECT domain E3 ubiquitin protein ligase 1 [ Mus musculus (house mouse) ]

    Gene ID: 207304, updated on 10-Oct-2024

    Summary

    Official Symbol
    Hectd1provided by MGI
    Official Full Name
    HECT domain E3 ubiquitin protein ligase 1provided by MGI
    Primary source
    MGI:MGI:2384768
    See related
    Ensembl:ENSMUSG00000035247 AllianceGenome:MGI:2384768
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    opm; b2b327Clo; A630086P08Rik
    Summary
    Enables ubiquitin protein ligase activity. Acts upstream of or within several processes, including animal organ development; negative regulation of protein localization to plasma membrane; and protein ubiquitination. Is expressed in several structures, including extraembryonic component; genitourinary system; heart; hemolymphoid system gland; and lung. Orthologous to human HECTD1 (HECT domain E3 ubiquitin protein ligase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bladder adult (RPKM 17.4), liver E14 (RPKM 15.1) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Hectd1 in Genome Data Viewer
    Location:
    12 B3; 12 22.11 cM
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (51790504..51876540, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (51743721..51829757, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene striatin, calmodulin binding protein 3 Neighboring gene adaptor-related protein complex AP-4, sigma 1 Neighboring gene STARR-positive B cell enhancer ABC_E5328 Neighboring gene STARR-seq mESC enhancer starr_32110 Neighboring gene predicted gene, 22663 Neighboring gene STARR-positive B cell enhancer ABC_E3051 Neighboring gene predicted gene 5785 Neighboring gene cytochrome c oxidase subunit 7C, mitochondrial pseudogene Neighboring gene predicted gene, 34894

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    open mind
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC12070

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within aorta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic placenta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart valve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within natural killer cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein K63-linked ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein autoubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within spongiotrophoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within trophoblast giant cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in nuclear speck IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase HECTD1
    Names
    HECT domain containing 1
    HECT domain-containing protein 1
    HECT-type E3 ubiquitin transferase HECTD1
    protein open mind
    NP_001392110.1
    NP_001392111.1
    NP_001392112.1
    NP_001392113.1
    NP_001392114.1
    NP_001392115.1
    NP_001392116.1
    NP_659037.2
    XP_011242351.1
    XP_011242352.1
    XP_036013175.1
    XP_036013180.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001405181.1NP_001392110.1  E3 ubiquitin-protein ligase HECTD1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
    2. NM_001405182.1NP_001392111.1  E3 ubiquitin-protein ligase HECTD1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
    3. NM_001405183.1NP_001392112.1  E3 ubiquitin-protein ligase HECTD1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
    4. NM_001405184.1NP_001392113.1  E3 ubiquitin-protein ligase HECTD1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
    5. NM_001405185.1NP_001392114.1  E3 ubiquitin-protein ligase HECTD1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
    6. NM_001405186.1NP_001392115.1  E3 ubiquitin-protein ligase HECTD1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
    7. NM_001405187.1NP_001392116.1  E3 ubiquitin-protein ligase HECTD1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
    8. NM_144788.3NP_659037.2  E3 ubiquitin-protein ligase HECTD1 isoform 1

      See identical proteins and their annotated locations for NP_659037.2

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC159644
      Consensus CDS
      CCDS49064.1
      UniProtKB/Swiss-Prot
      Q69ZR2
      UniProtKB/TrEMBL
      F8WIE5
      Related
      ENSMUSP00000046766.9, ENSMUST00000042052.9
      Conserved Domains (7) summary
      smart00119
      Location:21552607
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:21312608
      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 ...
      cd00204
      Location:369479
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam06701
      Location:12771335
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:366457
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:396426
      ANK; ANK repeat [structural motif]
      cl23730
      Location:11071240
      F5_F8_type_C; F5/8 type C domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      51790504..51876540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157282.1XP_036013175.1  E3 ubiquitin-protein ligase HECTD1 isoform X4

      UniProtKB/Swiss-Prot
      Q69ZR2
      Conserved Domains (6) summary
      cd00078
      Location:20832560
      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 ...
      sd00045
      Location:396426
      ANK; ANK repeat [structural motif]
      pfam06701
      Location:12761320
      MIB_HERC2; Mib_herc2
      pfam07738
      Location:11061239
      Sad1_UNC; Sad1 / UNC-like C-terminal
      pfam12796
      Location:366457
      Ank_2; Ankyrin repeats (3 copies)
      pfam18410
      Location:18441917
      BTHB; Basic tilted helix bundle domain
    2. XM_011244049.3XP_011242351.1  E3 ubiquitin-protein ligase HECTD1 isoform X1

      UniProtKB/Swiss-Prot
      Q69ZR2
      Conserved Domains (6) summary
      cd00078
      Location:21302607
      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 ...
      sd00045
      Location:396426
      ANK; ANK repeat [structural motif]
      pfam06701
      Location:12761334
      MIB_HERC2; Mib_herc2
      pfam07738
      Location:11061239
      Sad1_UNC; Sad1 / UNC-like C-terminal
      pfam12796
      Location:366457
      Ank_2; Ankyrin repeats (3 copies)
      pfam18410
      Location:18911964
      BTHB; Basic tilted helix bundle domain
    3. XM_036157287.1XP_036013180.1  E3 ubiquitin-protein ligase HECTD1 isoform X9

      UniProtKB/Swiss-Prot
      Q69ZR2
      Conserved Domains (5) summary
      cd00078
      Location:20212498
      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 ...
      sd00045
      Location:396426
      ANK; ANK repeat [structural motif]
      pfam06701
      Location:12771321
      MIB_HERC2; Mib_herc2
      pfam07738
      Location:11071240
      Sad1_UNC; Sad1 / UNC-like C-terminal
      pfam12796
      Location:366457
      Ank_2; Ankyrin repeats (3 copies)
    4. XM_011244050.3XP_011242352.1  E3 ubiquitin-protein ligase HECTD1 isoform X2

      UniProtKB/Swiss-Prot
      Q69ZR2
      Conserved Domains (6) summary
      cd00078
      Location:21292606
      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 ...
      sd00045
      Location:396426
      ANK; ANK repeat [structural motif]
      pfam06701
      Location:12771335
      MIB_HERC2; Mib_herc2
      pfam07738
      Location:11071240
      Sad1_UNC; Sad1 / UNC-like C-terminal
      pfam12796
      Location:366457
      Ank_2; Ankyrin repeats (3 copies)
      pfam18410
      Location:18901963
      BTHB; Basic tilted helix bundle domain