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Herc1 Gene Detail
Summary
  • Symbol
    Herc1
  • Name
    HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
  • Synonyms
    2810449H11Rik, D130015N03Rik, MGC:7618, tbl
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384589
    NCBI Gene: 235439
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:66257732-66416057 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 9, 35.86 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    311 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384589
protein coding gene Chr9:66257694-66416057 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034975
protein coding gene Chr9:66183624-66354337 (+)
A/J MGP_AJ_G0034955
protein coding gene Chr9:63901858-64062084 (+)
AKR/J MGP_AKRJ_G0034885
protein coding gene Chr9:65438002-65604854 (+)
BALB/cJ MGP_BALBcJ_G0034948
protein coding gene Chr9:63627689-63787313 (+)
C3H/HeJ no annotation
C57BL/6NJ MGP_C57BL6NJ_G0035467
protein coding gene Chr9:67990966-68166520 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032378
protein coding gene Chr9:63548037-63707327 (+)
CAST/EiJ MGP_CASTEiJ_G0033979
protein coding gene Chr9:66165766-66337253 (+)
CBA/J MGP_CBAJ_G0034629
protein coding gene Chr9:70334725-70505458 (+)
DBA/2J MGP_DBA2J_G0034788
protein coding gene Chr9:63681568-63841802 (+)
FVB/NJ MGP_FVBNJ_G0034730
protein coding gene Chr9:63022023-63185942 (+)
LP/J MGP_LPJ_G0034871
protein coding gene Chr9:66434131-66601722 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034772
protein coding gene Chr9:71558790-71756248 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035489
protein coding gene Chr9:65534124-65706047 (+)
PWK/PhJ MGP_PWKPhJ_G0033683
protein coding gene Chr9:63885841-64047911 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033517
protein coding gene Chr9:65836867-66009181 (+)
WSB/EiJ MGP_WSBEiJ_G0034092
protein coding gene Chr9:65438900-65604500 (+)



Homology
more
  • Human Ortholog
    HERC1, HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HERC1, HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
  • Synonyms
    MDFPMR, p532, p619
  • Links
    NCBI Gene ID: 8925
    neXtProt AC: NX_Q15751
    UniProt: Q15751

  • Chr Location
    15q22.31; chr15:63608618-63833948 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 3 alleles in 3 genetic backgrounds
    1 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.
Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038664 Ensembl Gene Model | MGI Sequence Detail 158326 C57BL/6J ±  kb
    transcript ENSMUST00000042824 Ensembl | MGI Sequence Detail 15153 Not Applicable  
    polypeptide ENSMUSP00000044801 Ensembl | MGI Sequence Detail 4859 Not Applicable  
    For the selected sequence
    Protein
    Information
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    • UniProt
      8 Sequences
    • InterPro Domains
      IPR001870 B30.2/SPRY domain
      IPR043136 B30.2/SPRY domain superfamily
      IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
      IPR045183 F-box-like/WD repeat-containing protein Ebi-like
      IPR000569 HECT domain
      IPR035983 HECT, E3 ligase catalytic domain
      IPR035768 HERC1, SPRY domain
      IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
      IPR000408 Regulator of chromosome condensation, RCC1
      IPR003877 SPRY domain
      IPR001680 WD40 repeat
      IPR019775 WD40 repeat, conserved site
      IPR036322 WD40-repeat-containing domain superfamily
      IPR015943 WD40/YVTN repeat-like-containing domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1925757, MGI:2442235, MGI:3613032
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 2
      Gene Ontology 3
      Phenotypes 22
    • Earliest
      J:106414 Wassef M, et al., Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells. Dev Biol. 1987 Dec;124(2):379-89
    • Latest
      J:332580 Pedrazza L, et al., HERC1 deficiency causes osteopenia through transcriptional program dysregulation during bone remodeling. Cell Death Dis. 2023 Jan 12;14(1):17

    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)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory