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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:91730138-91918849 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 50.63 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    480 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 Chr2:91730134-91918849 (+)
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
    10
  • Human Ortholog
    AMBRA1, autophagy and beclin 1 regulator 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DCAF3, WDR94
  • Links
    NCBI Gene ID: 55626
    neXtProt AC: NX_Q9C0C7
    UniProt: Q9C0C7

  • Chr Location
    11p11.2; chr11:46396412-46594069 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 18204
    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: AMBRA1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    26 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 228361 NCBI Gene Model | MGI Sequence Detail 188712 C57BL/6J ±  kb
    transcript NM_172669 RefSeq | MGI Sequence Detail 5329 C57BL/6  
    polypeptide A2AH22 UniProt | EBI | MGI Sequence Detail 1300 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    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 60
      Developmental Gene Expression 3
      Gene Ontology 8
      Phenotypes 26
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:277031 Nobili A, et al., Ambra1 Shapes Hippocampal Inhibition/Excitation Balance: Role in Neurodevelopmental Disorders. Mol Neurobiol. 2018 Oct;55(10):7921-7940

    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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    Funding Information
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    last database update
    12/03/2019
    MGI 6.14
    The Jackson Laboratory