Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55626
Gene name Gene Name - the full gene name approved by the HGNC.
Autophagy and beclin 1 regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AMBRA1
Synonyms (NCBI Gene) Gene synonyms aliases
DCAF3, WDR94
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
miRNA miRNA information provided by mirtarbase database.
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 assay, Western blotting, qRT-PCR 37464439
MIRT756303 hsa-miR-7-5p Luciferase reporter assay, Western blotting, qRT-PCR 38393538
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IMP 25215947
GO:0000422 Process Autophagy of mitochondrion IGI 25215947
GO:0000423 Process Mitophagy IDA 21753002
GO:0000423 Process Mitophagy IMP 25215947
GO:0005515 Function Protein binding IPI 20562859, 21358617, 22190034, 23524951, 23954414, 23974797, 25127057, 25215947, 25438055
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611359 25990 ENSG00000110497
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
30285260, 21747397, 23551272, 31374203, 28991256
Unknown
Disease term Disease name Evidence References Source
Hypertension Hypertension GWAS
Associations from Text Mining
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