AMBRA1 autophagy and beclin 1 regulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMBRA1provided by HGNC
Official Full Name: autophagy and beclin 1 regulator 1provided by HGNC
Primary source: HGNC:HGNC:25990
See related: Ensembl:ENSG00000110497 MIM:611359; AllianceGenome:HGNC:25990
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DCAF3; WDR94
Summary: Enables enzyme binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including macroautophagy; positive regulation of free ubiquitin chain polymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in cytoskeleton; mitochondrion; and nucleus. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 5.9), brain (RPKM 5.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (46396412..46594023, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (46552487..46750082, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (46417962..46615573, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AMBRA1 controls the translation of immune-specific genes in T lymphocytes.
Title: AMBRA1 controls the translation of immune-specific genes in T lymphocytes.
The ULK1 effector BAG2 regulates autophagy initiation by modulating AMBRA1 localization.
Title: The ULK1 effector BAG2 regulates autophagy initiation by modulating AMBRA1 localization.
AMBRA1 promotes intestinal inflammation by antagonizing PP4R1/PP4c mediated IKK dephosphorylation in an autophagy-independent manner.
Title: AMBRA1 promotes intestinal inflammation by antagonizing PP4R1/PP4c mediated IKK dephosphorylation in an autophagy-independent manner.
AMBRA1 levels predict resistance to MAPK inhibitors in melanoma.
Title: AMBRA1 levels predict resistance to MAPK inhibitors in melanoma.
sh- Ambra1 inhibits IRS-1/PI3K/Akt signalling pathway to reduce autophagy in gestational diabetes.
Title: sh- Ambra1 inhibits IRS-1/PI3K/Akt signalling pathway to reduce autophagy in gestational diabetes.
Ambra1 in exosomes secreted by HK-2 cells damaged by supersaturated oxalate induce mitophagy and autophagy-ferroptosis in normal HK-2 cells to participate in the occurrence of kidney stones.
Title: Ambra1 in exosomes secreted by HK-2 cells damaged by supersaturated oxalate induce mitophagy and autophagy-ferroptosis in normal HK-2 cells to participate in the occurrence of kidney stones.
Ambra1 modulates the sensitivity of mantle cell lymphoma to palbociclib by regulating cyclin D1.
Title: Ambra1 modulates the sensitivity of mantle cell lymphoma to palbociclib by regulating cyclin D1.
The Cancermuts software package for the prioritization of missense cancer variants: a case study of AMBRA1 in melanoma.
Title: The Cancermuts software package for the prioritization of missense cancer variants: a case study of AMBRA1 in melanoma.
[Homocysteine promotes human hepatocyte autophagy through activating the activating molecule in beclin-1-regulated autophage (AMBRA1)].
Title: [Homocysteine promotes human hepatocyte autophagy through activating the activating molecule in beclin-1-regulated autophage (AMBRA1)].
AMBRA1 regulates mitophagy by interacting with ATAD3A and promoting PINK1 stability.
Title: AMBRA1 regulates mitophagy by interacting with ATAD3A and promoting PINK1 stability.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif is identified to have a physical interaction with autophagy/beclin-1 regulator 1 (AMBRA1) in human HEK293 and/or Jurkat cell lines	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48957 (e-PCR)
- UniSTS:77825

RH28670 (e-PCR)
- UniSTS:84751

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

SHGC-78672 (e-PCR)
- UniSTS:101966

RH28603 (e-PCR)
- UniSTS:88664

L18426 (e-PCR)
- UniSTS:34648

D11S1252 (e-PCR)
- UniSTS:148344

G19616 (e-PCR)
- UniSTS:7300

A001T07 (e-PCR)
- UniSTS:7301

D11S1271E (e-PCR)
- UniSTS:473039

G62756 (e-PCR)
- UniSTS:139733

G30960 (e-PCR)
- UniSTS:31958

Gene Ontology Provided by GOA

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

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

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	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: DDB1 and CUL4 associated factor 3; WD repeat domain 94; activating molecule in beclin-1-regulated autophagy; autophagy/beclin-1 regulator 1

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_001267782.2 → NP_001254711.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 1

See identical proteins and their annotated locations for NP_001254711.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC115097, AK000301, BC045609, DB070055

UniProtKB/TrEMBL

B4DZ97

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_001267783.2 → NP_001254712.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 3

See identical proteins and their annotated locations for NP_001254712.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AL834190, DB070055, DQ870924

Consensus CDS

CCDS58132.1

UniProtKB/TrEMBL

A0A075B6T1, B4DZ97

Related

ENSP00000433372.1, ENST00000533727.5

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_001300731.2 → NP_001287660.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 4

See identical proteins and their annotated locations for NP_001287660.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) retains an alternate in-frame intron and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) contains an alternate internal segment and lacks two other alternate internal segments compared to isoform 1.

Source sequence(s)

AB051523, DB070055

Consensus CDS

CCDS73281.1

UniProtKB/TrEMBL

B4DZ97

Related

ENSP00000431926.1, ENST00000534300.5

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_001367468.1 → NP_001354397.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5), as well as variant 10, encodes isoform 5.

Source sequence(s)

AC116021, AC127035, AK302808

Consensus CDS

CCDS91466.1

UniProtKB/Swiss-Prot

A6XN33, D3DQP8, G3V193, Q86XD6, Q9C0C7, Q9H8Z0, Q9NXE7

UniProtKB/TrEMBL

B4DZ97

Related

ENSP00000415327.2, ENST00000458649.6

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 ...
NM_001367469.1 → NP_001354398.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC024293, AC115097, AC116021, AC127035

UniProtKB/TrEMBL

B4DZ97
NM_001367470.1 → NP_001354399.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC024293, AC115097, AC116021, AC127035
NM_001367471.1 → NP_001354400.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (8), as well as variant 2, encodes isoform 2.

Source sequence(s)

AC024293, AC115097, AC116021, AC127035

Consensus CDS

CCDS31475.1

UniProtKB/TrEMBL

B4DZ97
NM_001387011.1 → NP_001373940.1 activating molecule in BECN1-regulated autophagy protein 1 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (10), as well as variant 5, encodes isoform 5.

Source sequence(s)

AC024293, AC115097, AC116021, AC127035

Consensus CDS

CCDS91466.1

UniProtKB/Swiss-Prot

A6XN33, D3DQP8, G3V193, Q86XD6, Q9C0C7, Q9H8Z0, Q9NXE7

UniProtKB/TrEMBL

B4DZ97

Related

ENSP00000508322.1, ENST00000683756.1

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 ...
NM_017749.3 → NP_060219.2 activating molecule in BECN1-regulated autophagy protein 1 isoform 2

See identical proteins and their annotated locations for NP_060219.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 8 both encode the same isoform (2).

Source sequence(s)

AK023197, BC045609, BF589843, DB232750

Consensus CDS

CCDS31475.1

UniProtKB/TrEMBL

B4DZ97

Related

ENSP00000318313.3, ENST00000314845.7

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 ...