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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
Location & Maps
more
  • Sequence Map
    Chr12:51743722-51829536 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      85815 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 22.11 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    HECTD1, HECT domain E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HECTD1, HECT domain E3 ubiquitin protein ligase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EULIR
  • Links
    NCBI Gene ID: 25831
    neXtProt AC: NX_Q9ULT8
    UniProt: Q9ULT8

  • Chr Location
    14q12; chr14:31100115-31208060 (-)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 9115
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: HECTD1
  • Gene Tree
    Hectd1
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 4 alleles in 7 genetic backgrounds
    12 images
    22 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
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  • All GO Annotations
    22
  • GO References
    9
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    14
  • Tissues
    10
  • cDNA Data
    212
  • Literature Summary
    3
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 207304 NCBI Gene Model | MGI Sequence Detail 85815 C57BL/6J ±  kb
transcript NM_144788 RefSeq | MGI Sequence Detail 8988 Not Specified  
polypeptide Q69ZR2 UniProt | EBI | MGI Sequence Detail 2618 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    705 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 213
    cDNA 212
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1276115, MGI:2144896, MGI:2443495, MGI:5313701
References
more
  • Summaries
    All 46
    Developmental Gene Expression 3
    Gene Ontology 9
    Phenotypes 22
  • 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:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
06/20/2017
MGI 6.10 		The Jackson Laboratory