AMBRA1
Activating molecule in BECN1-regulated autophagy protein 1
Also known as: AMRA1_HUMAN, DCAF3, FLJ20294, KIAA1736, WDR94
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9C0C7
- Gene
- AMBRA1
- Ensembl
- ENSG00000110497
- Chromosome
- 11
- Canonical length
- 1298 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Vesicles,Mitochondria
OverviewNCBI Gene
Enables enzyme binding activity; protein phosphatase activator 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, Jul 2025]
Canonical amino-acid sequenceUniProt
1298 residues, UniProt reviewed canonical sequence.
>Q9C0C7|AMBRA1
1 MKVVPEKNAV RILWGRERGA RAMGAQRLLQ ELVEDKTRWM KWEGKRVELP DSPRSTFLLA
61 FSPDRTLLAS THVNHNIYIT EVKTGKCVHS LIGHRRTPWC VTFHPTISGL IASGCLDGEV
121 RIWDLHGGSE SWFTDSNNAI ASLAFHPTAQ LLLIATANEI HFWDWSRREP FAVVKTASEM
181 ERVRLVRFDP LGHYLLTAIV NPSNQQGDDE PEIPIDGTEL SHYRQRALLQ SQPVRRTPLL
241 HNFLHMLSSR SSGIQVGEQS TVQDSATPSP PPPPPQPSTE RPRTSAYIRL RQRVSYPTAE
301 CCQHLGILCL CSRCSGTRVP SLLPHQDSVP PASARATTPS FSFVQTEPFH PPEQASSTQQ
361 DQGLLNRPSA FSTVQSSTAG NTLRNLSLGP TRRSLGGPLS SHPSRYHREI APGLTGSEWT
421 RTVLSLNSRS EAESMPPPRT SASSVSLLSV LRQQEGGSQA SVYTSATEGR GFPASGLATE
481 SDGGNGSSQN NSGSIRHELQ CDLRRFFLEY DRLQELDQSL SGEAPQTQQA QEMLNNNIES
541 ERPGPSHQPT PHSSENNSNL SRGHLNRCRA CHNLLTFNND TLRWERTTPN YSSGEASSSW
601 QVPSSFESVP SSGSQLPPLE RTEGQTPSSS RLELSSSASP QEERTVGVAF NQETGHWERI
661 YTQSSRSGTV SQEALHQDMP EESSEEDSLR RRLLESSLIS LSRYDGAGSR EHPIYPDPAR
721 LSPAAYYAQR MIQYLSRRDS IRQRSMRYQQ NRLRSSTSSS SSDNQGPSVE GTDLEFEDFE
781 DNGDRSRHRA PRNARMSAPS LGRFVPRRFL LPEYLPYAGI FHERGQPGLA THSSVNRVLA
841 GAVIGDGQSA VASNIANTTY RLQWWDFTKF DLPEISNASV NVLVQNCKIY NDASCDISAD
901 GQLLAAFIPS SQRGFPDEGI LAVYSLAPHN LGEMLYTKRF GPNAISVSLS PMGRYVMVGL
961 ASRRILLHPS TEHMVAQVFR LQQAHGGETS MRRVFNVLYP MPADQRRHVS INSARWLPEP
1021 GLGLAYGTNK GDLVICRPEA LNSGVEYYWD QLNETVFTVH SNSRSSERPG TSRATWRTDR
1081 DMGLMNAIGL QPRNPATSVT SQGTQTLALQ LQNAETQTER EVPEPGTAAS GPGEGEGSEY
1141 GASGEDALSR IQRLMAEGGM TAVVQREQST TMASMGGFGN NIIVSHRIHR SSQTGTEPGA
1201 AHTSSPQPST SRGLLPEAGQ LAERGLSPRT ASWDQPGTPG REPTQPTLPS SSPVPIPVSL
1261 PSAEGPTLHC ELTNNNHLLD GGSSRGDAAG PRGEPRNRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AMBRA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 13 nTPM
Expression across tissuesHPA
Tissue
- skin: 13 nTPM
- adrenal gland: 13 nTPM
- thymus: 13 nTPM
- parathyroid gland: 11 nTPM
- bone marrow: 11 nTPM
- testis: 11 nTPM
Single-cell type
- papillary tip epithelial cells: 318 nCPM
- gastric progenitor cells: 288 nCPM
- tuft cells: 265 nCPM
- renal collecting duct principal cells: 228 nCPM
- adrenal cortex cells: 217 nCPM
- renal collecting duct intercalated cells: 209 nCPM
Immune cell
- basophil: 12 nTPM
- T-reg: 3.1 nTPM
- gdT-cell: 2.5 nTPM
- neutrophil: 2.5 nTPM
- memory B-cell: 2.3 nTPM
- classical monocyte: 2.2 nTPM
Brain region
- white matter: 38 nTPM
- cerebral cortex: 35 nTPM
- basal ganglia: 34 nTPM
- thalamus: 33 nTPM
- cerebellum: 32 nTPM
- amygdala: 31 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.95
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome assembly
- cell differentiation
- cellular response to starvation
- mitophagy
- negative regulation of cardiac muscle cell apoptotic process
- negative regulation of cell population proliferation
- negative regulation of neuron apoptotic process
- neural tube development
- positive regulation of autophagy
- positive regulation of free ubiquitin chain polymerization
- positive regulation of mitophagy
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of regulatory T cell differentiation
- proteasome-mediated ubiquitin-dependent protein catabolic process
- protein polyubiquitination
- regulation of G1/S transition of mitotic cell cycle
- regulation of transcription by RNA polymerase II
- response to mitochondrial depolarisation
Molecular functions
- GTPase binding
- protein phosphatase activator activity
- protein phosphatase binding
- ubiquitin protein ligase binding
- ubiquitin-like ligase-substrate adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD40 repeat, conserved site
- WD40-repeat-containing domain superfamily
- WD domain, G-beta repeat
- Activating Molecule in BECN1-Regulated Autophagy
KeywordsUniProt
- Autophagy
- Cell cycle
- Cell junction
- Cytoplasm
- Cytoplasmic vesicle
- Cytoskeleton
- Developmental protein
- Differentiation
- Endoplasmic reticulum
- Isopeptide bond
- Methylation
- Mitochondrion
- Neurogenesis
- Nucleus
- Phosphoprotein
- Repeat
- Transcription
- Transcription regulation
- Tumor suppressor
- Ubl conjugation
- Ubl conjugation pathway
- WD repeat
InteractionsUniProt · HPA
Protein binding partners of AMBRA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AMBRA1 as an antibody target. Whether an autoantibody or antibody against AMBRA1 could matter depends on whether native AMBRA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AMBRA1 is annotated at the cell surface, where native AMBRA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label AMBRA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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