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Hectd1 Gene Detail
Summary
  • Symbol
    Hectd1
  • Name
    HECT domain E3 ubiquitin protein ligase 1
  • Synonyms
    A630086P08Rik, b2b327Clo, MGC:12070, opm
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384768
    NCBI Gene: 207304
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:51790505-51876319 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 22.11 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2303 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384768
 protein coding gene Chr12:51790504-51876540 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019727
 protein coding gene Chr12:50555744-50645541 (-)
A/J MGP_AJ_G0019689
 protein coding gene Chr12:48770281-48857825 (-)
AKR/J MGP_AKRJ_G0019660
 protein coding gene Chr12:50233802-50323931 (-)
BALB/cJ MGP_BALBcJ_G0019667
 protein coding gene Chr12:49053230-49142608 (-)
C3H/HeJ MGP_C3HHeJ_G0019470
 protein coding gene Chr12:50338721-50433701 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020115
 protein coding gene Chr12:52124823-52220034 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017738
 protein coding gene Chr12:47159426-47248336 (-)
CAST/EiJ MGP_CASTEiJ_G0019023
 protein coding gene Chr12:45375103-45465668 (-)
CBA/J MGP_CBAJ_G0019442
 protein coding gene Chr12:53905468-54008470 (-)
DBA/2J MGP_DBA2J_G0019556
 protein coding gene Chr12:48632431-48721800 (-)
FVB/NJ MGP_FVBNJ_G0019545
 protein coding gene Chr12:48067437-48155117 (-)
LP/J MGP_LPJ_G0019628
 protein coding gene Chr12:50589433-50680111 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019581
 protein coding gene Chr12:55543287-55635139 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020153
 protein coding gene Chr12:49726937-49818008 (-)
PWK/PhJ MGP_PWKPhJ_G0018790
 protein coding gene Chr12:43210211-43297137 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018584
 protein coding gene Chr12:44318702-44409773 (-)
WSB/EiJ MGP_WSBEiJ_G0019074
 protein coding gene Chr12:50211118-50304834 (-)



Homology
more
  • Human Ortholog
    HECTD1, HECT domain E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HECTD1, HECT domain E3 ubiquitin protein ligase 1
  • Synonyms
    EULIR
  • Links
    NCBI Gene ID: 25831
    neXtProt AC: NX_Q9ULT8
    UniProt: Q9ULT8

  • Chr Location
    14q12; chr14:31100117-31207804 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 4 alleles in 7 genetic backgrounds
    12 images
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    767
  • Tissues
    43
  • cDNA Data
    215
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035247 Ensembl Gene Model | MGI Sequence Detail 85815 C57BL/6J ±  kb
    transcript ENSMUST00000042052 Ensembl | MGI Sequence Detail 8988 Not Applicable  
    polypeptide ENSMUSP00000046766 Ensembl | MGI Sequence Detail 2610 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 218
      cDNA 215
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1276115, MGI:2144896, MGI:2443495, MGI:5313701
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 6
      Gene Ontology 9
      Phenotypes 31
    • Earliest
      J:48268 Kasarskis A, et al., A phenotype-based screen for embryonic lethal mutations in the mouse. Proc Natl Acad Sci U S A. 1998 Jun 23;95(13):7485-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory