• Gene id: 55626

Gene Summary

• Gene Symbol: AMBRA1   Gene   UCSC   Ensembl
• Aliases: DCAF3, WDR94
• Gene name: autophagy and beclin 1 regulator 1
• Alternate names: activating molecule in BECN1-regulated autophagy protein 1, DDB1 and CUL4 associated factor 3, WD repeat domain 94, activating molecule in beclin-1-regulated autophagy, autophagy/beclin-1 regulator 1,
• Gene location: 11p11.2 (46594054: 46396411)     Exons: 25     NC_000011.10
• OMIM: 606590

Protein Summary

• Protein general information: Q9C0C7  
  • Name: Activating molecule in BECN1 regulated autophagy protein 1
  • Length: 1298  
  • Mass: 142507
• Sequence:

  MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLAFSPDRTLLASTHVNH
  NIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEVRIWDLHGGSESWFTDSNNAIASLAFHPTAQ
  LLLIATANEIHFWDWSRREPFAVVKTASEMERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQ
  RALLQSQPVRRTPLLHNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAE
  CCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQ
  SSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSV
  LRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAP
  QTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSW
  QVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEAL
  HQDMPEESSEEDSLRRRLLESSLISLSRYDGAGSREHPIYPDPARLSPAAYYAQRMIQYLSRRDSIRQRSMRYQQ
  NRLRSSTSSSSSDNQGPSVEGTDLEFEDFEDNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERG
  QPGLATHSSVNRVLAGAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDISAD
  GQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVMVGLASRRILLHPSTEHMV
  AQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWLPEPGLGLAYGTNKGDLVICRPEALNSGVEYYWD
  QLNETVFTVHSNSRSSERPGTSRATWRTDRDMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEP
  GTAASGPGEGEGSEYGASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTEPGA
  AHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIPVSLPSAEGPTLHCELTNN
  NHLLDGGSSRGDAAGPRGEPRNR

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • DIP: 53597
  • STRING: ENSP00000431926
• Other Databases: GeneCards:  AMBRA1  Malacards:  AMBRA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0000423	mitophagy	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	colocalizes with
GO:0048471	perinuclear region of cytoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0098780	response to mitochondrial depolarisation	IDA	biological process
GO:0000423	mitophagy	IMP	biological process
GO:0005741	mitochondrial outer membrane	NAS	cellular component
GO:0098780	response to mitochondrial depolarisation	IGI	biological process
GO:0000045	autophagosome assembly	IMP	biological process
GO:0000422	autophagy of mitochondrion	IGI	biological process
GO:0000422	autophagy of mitochondrion	IGI	biological process
GO:0006914	autophagy	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005930	axoneme	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0021915	neural tube development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0010508	positive regulation of autophagy	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0005776	autophagosome	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051020	GTPase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05017	Spinocerebellar ataxia
hsa04140	Autophagy - animal
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Multiple system atrophy	PMID:27875637
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq