Gene Gene information from NCBI Gene database.
Entrez ID 55626
Gene name Autophagy and beclin 1 regulator 1
Gene symbol AMBRA1
Synonyms (NCBI Gene)
DCAF3WDR94
Chromosome 11
Chromosome location 11p11.2
miRNA miRNA information provided by mirtarbase database.
308
miRTarBase ID miRNA Experiments Reference
MIRT045188 hsa-miR-186-5p CLASH 23622248
MIRT043533 hsa-miR-331-3p CLASH 23622248
MIRT042802 hsa-miR-339-5p CLASH 23622248
MIRT756017 hsa-miR-3653-5p Luciferase reporter assayWestern blottingqRT-PCR 37464439
MIRT756303 hsa-miR-7-5p Luciferase reporter assayWestern blottingqRT-PCR 38393538
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IDA 20713597, 23202584, 23392225, 23524951, 25891078, 28890335, 33637724
GO:0000045 Process Autophagosome assembly IDA 20921139, 23524951
GO:0000045 Process Autophagosome assembly IMP 30778222
GO:0000045 Process Autophagosome assembly IMP 25215947
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611359 25990 ENSG00000110497
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0C7
Protein name Activating molecule in BECN1-regulated autophagy protein 1 (DDB1- and CUL4-associated factor 3)
Protein function Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex involved in cell cycle control and autophagy (PubMed:20921139, PubMed:23524951, PubMed:24587252, PubMed:32333458, PubMed:33854232, PubMed:33854235, Pu
PDB 8WQR
Family and domains
Sequence
MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLA
FSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEV
RIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEM
ERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLL
HNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAE
CCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQ
DQGLLNRPSAFSTVQSSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWT
RTVLSLNSRSEAESMPPPRTSASSVSLLSVLRQQEGGSQASVYTSATEGRGFPASGLATE
SDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAPQTQQAQEMLNNNIES
ERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSW
QVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERI
YTQSSRSGTVSQEALHQDMPEESSEEDSLRRRLLESSLISLSRYDGAGSREHPIYPDPAR
LSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFEDFE
DNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNRVLA
GAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDISAD
GQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVMVGL
ASRRILLHPSTEHMVAQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWLPEP
GLGLAYGTNKGDLVICRPEALNSGVEYYWDQLNETVFTVHSNSRSSERPGTSRATWRTDR
DMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEPGTAASGPGEGEGSEY
GASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTEPGA
AHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIPVSL
PSAEGPTLHCELTNNNHLLDGGSSRGDAAGPRGEPRNR
Sequence length 1298
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal
Autophagy - animal
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
  Macroautophagy
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Likely benign rs147544015 RCV005936897
AMBRA1-related disorder Uncertain significance; Likely benign rs773330938, rs2496786414, rs1457144643, rs147544015 RCV003402075
RCV003422501
RCV003418770
RCV003904636
Esophageal atresia Uncertain significance rs1565279367 RCV000984639
Malignant tumor of urinary bladder Uncertain significance rs143074080 RCV005930993
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 30476925
Cardiomyopathies Associate 35656020
Cell Transformation Neoplastic Associate 36243772
Cerebral Hemorrhage Associate 30836997
Cholangiocarcinoma Associate 25197362
Colorectal Neoplasms Associate 24587252, 36333388
COVID 19 Associate 35657140
Diabetes Gestational Stimulate 38497391
Drug Related Side Effects and Adverse Reactions Associate 33172332
Kidney Calculi Associate 37806389