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Ambra1
Gene Detail
 Symbol
Name
ID
Ambra1
autophagy/beclin 1 regulator 1
MGI:2443564
Synonyms 2310079H06Rik, D030051N19Rik, mKIAA1736
Feature Type protein coding gene
Genetic Map
Chromosome 2
50.63 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:91730134-91918849 bp, + strand
From VEGA annotation of GRCm38

  188716 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18204  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ambra1

Human
homologs
Human Homolog AMBRA1, autophagy/beclin-1 regulator 1
NCBI Gene ID 55626
neXtProt AC  NX_Q9C0C7
Human Synonyms  DCAF3, WDR94
Human Chr (Location)  11p11.2; chr11:46396412-46594069 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(105) : Gene trapped(101) Targeted(4)
Genomic Mutations involving Ambra1 (2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Ambra1 interacts with 224 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process autophagy, cell differentiation, ...
Component axoneme, cytoplasm, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(72)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(72) cDNA(72)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000014330 (Evidence)
Ensembl Gene ModelENSMUSG00000040506 (Evidence)
Entrez Gene228361 (Evidence)
UniGene436667
DFCITC1581733, TC1595898, TC1619759, TC1630618, TC1704116, TC1730364
DoTSDT.101736485, DT.103569499, DT.40172174, DT.91332939, DT.91582663, DT.97359520, DT.97360781
NIA Mouse Gene IndexU002129
Consensus CDS ProjectCCDS38179.1, CCDS38180.1
International Mouse Knockout Project StatusAmbra1
Sequences
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 sequences
All sequences(70) RefSeq(8) UniProt(1)
Polymorphisms SNPs within 2kb(488 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001680 WD40 repeat
InterPro IPR019775 WD40 repeat, conserved site
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000003987 activating molecule in BECN1-regulated autophagy protein 1
References (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
All references(41)
Other
accession IDs
MGI:1923722, MGI:2139238, MGI:3034430

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
08/12/2014
MGI 5.19
The Jackson Laboratory