About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    Chr2:91730134-91918849 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      188716 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 50.63 cM
  • Mapping Data
    2 experiments
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: HGNC, HomoloGene
  • Synonyms
    DCAF3, WDR94
  • Links
    NCBI Gene ID: 55626
    neXtProt AC: NX_Q9C0C7

  • Chr Location
    11p11.2; chr11:46396412-46594069 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    15 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
    107
  • Chemically induced (other)
    1
  • Gene trapped
    101
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    4 involving Ambra1
  • Incidental Mutations
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
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014330 VEGA Gene Model | MGI Sequence Detail 188716 C57BL/6J ±  kb
transcript OTTMUST00000033812 VEGA | MGI Sequence Detail 5203 Not Applicable  
polypeptide OTTMUSP00000015141 VEGA | MGI Sequence Detail 1300 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    480 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000003987 activating molecule in BECN1-regulated autophagy protein 1
  • InterPro Domains
    IPR001680 WD40 repeat
    IPR019775 WD40 repeat, conserved site
    IPR017986 WD40-repeat-containing domain
    IPR015943 WD40/YVTN repeat-like-containing domain
Molecular
Reagents
less
  • All nucleic 74
    cDNA 72
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGI:1923722, MGI:2139238, MGI:3034430
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Gene Ontology 6
    Phenotypes 15
  • 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:203423 Pampliega O, et al., Functional interaction between autophagy and ciliogenesis. Nature. 2013 Oct 10;502(7470):194-200

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory