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Hace1 Gene Detail
Summary
  • Symbol
    Hace1
  • Name
    HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
  • Synonyms
    1700042J16Rik, A730034A22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446110
    NCBI Gene: 209462
Location & Maps
more
  • Sequence Map
    Chr10:45577829-45712345 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      134517 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 23.65 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    HACE1, HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HACE1, HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SPPRS
  • Links
    NCBI Gene ID: 57531
    neXtProt AC: NX_Q8IYU2

  • Chr Location
    6q16.3; chr6:104682659-104859919 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human HACE1 associations

Human Disease Mouse Models
       Spastic Paraplegia and Psychomotor Retardation with or without Seizures;   OMIM: 616756
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    16 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.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Hace1
  • Incidental Mutations
Mice homozygous for a null allele exhibit increased spontaneous and induced tumors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025958 VEGA Gene Model | MGI Sequence Detail 134517 C57BL/6J ±  kb
transcript OTTMUST00000064027 VEGA | MGI Sequence Detail 3785 Not Applicable  
polypeptide OTTMUSP00000031750 VEGA | MGI Sequence Detail 909 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    576 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 38
    cDNA 38

    Microarray probesets 6
Other
Accession IDs
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MGI:1920541, MGI:2444231
References
more
  • Summaries
    All 38
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 16
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:223374 Teng AC, et al., Metformin increases degradation of phospholamban via autophagy in cardiomyocytes. Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):7165-70

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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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory