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; chr11:46417962-46615619 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(103) : Targeted(2) Gene trapped(101)
 

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

All GO classifications: (11 annotations)

Process	autophagy, cell differentiation, ...
Component	cytoplasm, cytoplasmic vesicle
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (1 records)
cDNA source data(74)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(74) cDNA(74)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000014330 (Evidence)
Ensembl Gene Model	ENSMUSG00000040506 (Evidence)
Entrez Gene	228361 (Evidence)
UniGene	436667
DFCI	TC1581733, TC1595898, TC1619759, TC1630618, TC1704116, TC1730364
DoTS	DT.101736485, DT.103569499, DT.40172174, DT.91332939, DT.91582663, DT.97359520, DT.97360781
NIA Mouse Gene Index	U002129
Consensus CDS Project	CCDS38179.1, CCDS38180.1
International Mouse Knockout Project Status	Ambra1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000014330	VEGA Gene Model | MGI Sequence Detail	188716	C57BL/6J
transcript	OTTMUST00000033812	VEGA | MGI Sequence Detail	5203	Not Applicable
polypeptide	OTTMUSP00000015141	VEGA | MGI Sequence Detail	1300	Not Applicable

All sequences(66) RefSeq(4) UniProt(1)

Polymorphisms

SNPs(408 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193585 Vazquez P, et al., Atg5 and Ambra1 differentially modulate neurogenesis in neural stem cells. Autophagy. 2012 Feb 1;8(2):187-99
All references(38)

Other accession IDs

MGI:1923722, MGI:2139238, MGI:3034430