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Ambra1 Gene Detail
Summary
  • Symbol
    Ambra1
  • Name
    autophagy/beclin 1 regulator 1
  • Synonyms
    2310079H06Rik, D030051N19Rik, mKIAA1736
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443564
    NCBI Gene: 228361
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:91560479-91749194 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 50.63 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2922 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443564
 protein coding gene Chr2:91560464-91749194 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026157
 protein coding gene Chr2:93094124-93302691 (+)
A/J MGP_AJ_G0026118
 protein coding gene Chr2:89351321-89543999 (+)
AKR/J MGP_AKRJ_G0026099
 protein coding gene Chr2:91818449-92015286 (+)
BALB/cJ MGP_BALBcJ_G0026127
 protein coding gene Chr2:89533798-89730114 (+)
C3H/HeJ MGP_C3HHeJ_G0025878
 protein coding gene Chr2:92109204-92315273 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026578
 protein coding gene Chr2:96333669-96531041 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023969
 protein coding gene Chr2:85856230-86037894 (+)
CAST/EiJ MGP_CASTEiJ_G0025343
 protein coding gene Chr2:92660815-92857897 (+)
CBA/J MGP_CBAJ_G0025856
 protein coding gene Chr2:99650117-99870530 (+)
DBA/2J MGP_DBA2J_G0025992
 protein coding gene Chr2:88952226-89140749 (+)
FVB/NJ MGP_FVBNJ_G0025955
 protein coding gene Chr2:88051748-88237657 (+)
LP/J MGP_LPJ_G0026096
 protein coding gene Chr2:93304429-93499013 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025981
 protein coding gene Chr2:102664114-102867791 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026632
 protein coding gene Chr2:91900986-92100613 (+)
PWK/PhJ MGP_PWKPhJ_G0025078
 protein coding gene Chr2:88689946-88877542 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024879
 protein coding gene Chr2:91475560-91664345 (+)
WSB/EiJ MGP_WSBEiJ_G0025410
 protein coding gene Chr2:92496967-92706809 (+)



Homology
more
  • Human Ortholog
    AMBRA1, autophagy and beclin 1 regulator 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AMBRA1, autophagy and beclin 1 regulator 1
  • Synonyms
    DCAF3, WDR94
  • Links
    NCBI Gene ID: 55626
    neXtProt AC: NX_Q9C0C7
    UniProt: Q9C0C7

  • Chr Location
    11p11.2; chr11:46396412-46594125 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 2 alleles in 3 genetic backgrounds
    36 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.
Most mice homozygous for a gene trap mutation die at E10-E14.5 with severe neural tube defects manifest as midbrain/hindbrain exencephaly and/or spina bifida and associated with impaired autophagy, accumulation of ubiquitinated proteins, abnormal cell proliferation and excessive apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    64
  • GO References
    14
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    709
  • Tissues
    3
  • cDNA Data
    73
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040506 Ensembl Gene Model | MGI Sequence Detail 188716 C57BL/6J ±  kb
    transcript ENSMUST00000045705 Ensembl | MGI Sequence Detail 5203 Not Applicable  
    polypeptide ENSMUSP00000049258 Ensembl | MGI Sequence Detail 1300 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000003987 activating molecule in BECN1-regulated autophagy protein 1
      (term hierarchy)
    • InterPro Domains
      IPR052596 Activating Molecule in BECN1-Regulated Autophagy
      IPR001680 WD40 repeat
      IPR019775 WD40 repeat, conserved site
      IPR036322 WD40-repeat-containing domain superfamily
      IPR015943 WD40/YVTN repeat-like-containing domain superfamily
    • GlyGen
      A2AH22 3 sites, 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 75
      cDNA 73
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1923722, MGI:2139238, MGI:3034430
    References
    more
    • Summaries
      All 79
      Developmental Gene Expression 5
      Gene Ontology 14
      Phenotypes 36
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • 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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory