Ambra1 MGI Mouse Gene Detail - MGI:2443564 - autophagy/beclin 1 regulator 1

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

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

SNPs within 2kb

2922 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:25990

NCBI Gene ID: 55626

neXtProt AC: NX_Q9C0C7

UniProt: Q9C0C7
Chr Location

11p11.2; chr11:46396412-46594125 (-) GRCh38

MGI Vertebrate Homology

Ambra1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AMBRA1
Gene Tree

Ambra1

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Phenotype Summary

24 phenotypes from 2 alleles in 3 genetic backgrounds
36 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

93
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

80
Radiation induced

1
Targeted

6
Genomic Mutations

4 involving Ambra1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

118 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

67
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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ambra1

ZFIN ambra1a, ambra1b

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All Sequences

61
RefSeq

8
UniProt

1
CCDS

CCDS38179.1, CCDS38180.1

Ensembl

ENSMUSG00000040506 (Evidence)
NCBI Gene

228361

			Length	Strain/Species	Flank
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

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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)

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All nucleic 75

cDNA 73

Primer pair 2

Microarray probesets 5

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MGI:1923722, MGI:2139238, MGI:3034430

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

TSS for Ambra1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18921	Chr2:91560472-91560542 (+)	28 bp
Tssr18922	Chr2:91561278-91561283 (+)	802 bp
Tssr18923	Chr2:91595002-91595007 (+)	34,526 bp
Tssr18924	Chr2:91604656-91604664 (+)	44,181 bp
Tssr18925	Chr2:91610210-91610214 (+)	49,733 bp
Tssr18926	Chr2:91641976-91642000 (+)	81,509 bp
Tssr566	Chr2:91708159-91708161 (+)	147,681 bp
Tssr18927	Chr2:91710884-91710888 (+)	150,407 bp

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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