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

Gene ID: 207304, updated on 2-Nov-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. Involved in neural tube closure. Acts upstream of or within several processes, including cell differentiation involved in embryonic placenta development; circulatory system development; and protein ubiquitination. Predicted to be active in nuclear speck. 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, Nov 2024]
Expression
Ubiquitous expression in bladder adult (RPKM 17.4), liver E14 (RPKM 15.1) and 28 other tissues See more
Orthologs
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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)

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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