Ambra1 autophagy/beclin 1 regulator 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ambra1provided by MGI
Official Full Name: autophagy/beclin 1 regulator 1provided by MGI
Primary source: MGI:MGI:2443564
See related: Ensembl:ENSMUSG00000040506 AllianceGenome:MGI:2443564
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA1736; A130023A14; 2310079H06Rik; D030051N19Rik
Summary: Predicted to enable GTPase binding activity and ubiquitin protein ligase binding activity. Acts upstream of or within several processes, including autophagy; negative regulation of neuron apoptotic process; and neural tube development. Located in axoneme; cytosol; and phagocytic vesicle. Is expressed in main olfactory bulb. Orthologous to human AMBRA1 (autophagy and beclin 1 regulator 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 13.4), adrenal adult (RPKM 12.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E1; 2 50.63 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (91560464..91749194)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (91730138..91918849)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ambra1 modulates the tumor immune microenvironment and response to PD-1 blockade in melanoma.
Title: Ambra1 modulates the tumor immune microenvironment and response to PD-1 blockade in melanoma.
Ambra1 haploinsufficiency in CD1 mice results in metabolic alterations and exacerbates age-associated retinal degeneration.
Title: Ambra1 haploinsufficiency in CD1 mice results in metabolic alterations and exacerbates age-associated retinal degeneration.
Ambra1 deficiency impairs mitophagy in skeletal muscle.
Title: Ambra1 deficiency impairs mitophagy in skeletal muscle.
The AMBRA1 E3 ligase adaptor regulates the stability of cyclin D.
Title: The AMBRA1 E3 ligase adaptor regulates the stability of cyclin D.
CRL4(AMBRA1) is a master regulator of D-type cyclins.
Title: CRL4(AMBRA1) is a master regulator of D-type cyclins.
AMBRA1 regulates cyclin D to guard S-phase entry and genomic integrity.
Title: AMBRA1 regulates cyclin D to guard S-phase entry and genomic integrity.
Loss of Ambra1 promotes melanoma growth and invasion.
Title: Loss of Ambra1 promotes melanoma growth and invasion.
GIT1 interacted with Beclin1 and promoted Beclin1 phosphorylation at Thr119, which induced the disruption of Beclin1 and Bcl2 binding under starvation conditions, thereby, positively regulating autophagy. Taken together, the findings suggest a previously unappreciated role of GIT1 in autophagy of OCs during fracture repair
Title: GIT1 contributes to autophagy in osteoclast through disruption of the binding of Beclin1 and Bcl2 under starvation condition.
MG53 overexpression could promote the expression of Ambra1 in C2C12 cells and restore mitochondrial autophagy.
Title: Mitsugumin 53 promotes mitochondrial autophagy through regulating Ambra1 expression in C2C12 myoblast cells.
these findings identify an Ambra1-dependent mechanism that drives inhibition/excitation imbalance in the hippocampus, contributing to abnormal brain activity reminiscent of neurodevelopmental disorders.
Title: Ambra1 Shapes Hippocampal Inhibition/Excitation Balance: Role in Neurodevelopmental Disorders.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14603 (e-PCR)
- UniSTS:44820

UniSTS:225336 (e-PCR)
- UniSTS:225336

AV021921 (e-PCR)
- UniSTS:164167

A001T07 (e-PCR)
- UniSTS:7301

D2Mit334 (e-PCR), detects polymorphism
- UniSTS:129227

NoName (e-PCR)
- UniSTS:234459

NoName (e-PCR)
- UniSTS:234460

NoName (e-PCR)
- UniSTS:234462

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryo development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle cell apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of free ubiquitin chain polymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of regulatory T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of regulatory T cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to mitochondrial depolarisation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Cul4-RING E3 ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul4-RING E3 ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with mitochondrion	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: activating molecule in BECN1-regulated autophagy protein 1

Names: activating molecule in Beclin1-regulated autophagy

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001080754.1 → NP_001074223.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 2

See identical proteins and their annotated locations for NP_001074223.1

Status: VALIDATED

Source sequence(s)

AK169280, BC032293, CJ150588

Consensus CDS

CCDS38180.1

UniProtKB/Swiss-Prot

A2AH22

Related

ENSMUSP00000097299.4, ENSMUST00000099712.10

Conserved Domains (3) summary

COG2319
Location:48 → 198

WD40; WD40 repeat [General function prediction only]

sd00039
Location:56 → 92

7WD40; WD40 repeat [structural motif]

cl02567
Location:59 → 198

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_172669.3 → NP_766257.3 activating molecule in BECN1-regulated autophagy protein 1 isoform 1

See identical proteins and their annotated locations for NP_766257.3

Status: VALIDATED

Source sequence(s)

AK083596, AK129433, BC032293, CJ150588

Consensus CDS

CCDS38179.1

UniProtKB/Swiss-Prot

A2AH21, A2AH22, A2AH24, Q3TF60, Q3U239, Q3UF70, Q6ZPJ1, Q8BJJ8, Q8BYW8

Related

ENSMUSP00000049258.8, ENSMUST00000045705.14

Conserved Domains (3) summary

COG2319
Location:48 → 198

WD40; WD40 repeat [General function prediction only]

sd00039
Location:56 → 92

7WD40; WD40 repeat [structural motif]

cl02567
Location:59 → 198

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

91560464..91749194

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006499252.3 → XP_006499315.1 activating molecule in BECN1-regulated autophagy protein 1 isoform X1

Conserved Domains (2) summary

sd00039
Location:56 → 92

7WD40; WD40 repeat [structural motif]

cl29593
Location:59 → 198

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_006499253.2 → XP_006499316.1 activating molecule in BECN1-regulated autophagy protein 1 isoform X2

UniProtKB/Swiss-Prot

A2AH22

Related

ENSMUSP00000106949.3, ENSMUST00000111317.9

Conserved Domains (2) summary

sd00039
Location:56 → 92

7WD40; WD40 repeat [structural motif]

cl29593
Location:59 → 198

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...