• Gene id: 79065

Gene Summary

• Gene Symbol: ATG9A   Gene   UCSC   Ensembl
• Aliases: APG9L1, MGD3208, mATG9
• Gene name: autophagy related 9A
• Alternate names: autophagy-related protein 9A, APG9 autophagy 9-like 1, APG9-like 1, ATG9 autophagy related 9 homolog A, autophagy 9-like 1 protein,
• Gene location: 2q35 (219229635: 219219379)     Exons: 16     NC_000002.12
• OMIM: 612204

Protein Summary

• Protein general information: Q7Z3C6  
  • Name: Autophagy related protein 9A (APG9 like 1) (mATG9)
  • Length: 839  
  • Mass: 94447
• Sequence:

  MAQFDTEYQRLEASYSDSPPGEEDLLVHVAEGSKSPWHHIENLDLFFSRVYNLHQKNGFTCMLIGEIFELMQFLF
  VVAFTTFLVSCVDYDILFANKMVNHSLHPTEPVKVTLPDAFLPAQVCSARIQENGSLITILVIAGVFWIHRLIKF
  IYNICCYWEIHSFYLHALRIPMSALPYCTWQEVQARIVQTQKEHQICIHKRELTELDIYHRILRFQNYMVALVNK
  SLLPLRFRLPGLGEAVFFTRGLKYNFELILFWGPGSLFLNEWSLKAEYKRGGQRLELAQRLSNRILWIGIANFLL
  CPLILIWQILYAFFSYAEVLKREPGALGARCWSLYGRCYLRHFNELEHELQSRLNRGYKPASKYMNCFLSPLLTL
  LAKNGAFFAGSILAVLIALTIYDEDVLAVEHVLTTVTLLGVTVTVCRSFIPDQHMVFCPEQLLRVILAHIHYMPD
  HWQGNAHRSQTRDEFAQLFQYKAVFILEELLSPIVTPLILIFCLRPRALEIIDFFRNFTVEVVGVGDTCSFAQMD
  VRQHGHPQWLSAGQTEASVYQQAEDGKTELSLMHFAITNPGWQPPRESTAFLGFLKEQVQRDGAAASLAQGGLLP
  ENALFTSIQSLQSESEPLSLIANVVAGSSCRGPPLPRDLQGSRHRAEVASALRSFSPLQPGQAPTGRAHSTMTGS
  GVDARTASSGSSVWEGQLQSLVLSEYASTEMSLHALYMHQLHKQQAQAEPERHVWHRRESDESGESAPDEGGEGA
  RAPQSIPRSASYPCAAPRPGAPETTALHGGFQRRYGGITDPGTVPRVPSHFSRLPLGGWAEDGQSASRHPEPVPE
  EGSEDELPPQVHKV

• Structural information:
  • Interpro: IPR007241  
  • STRING: ENSP00000386710
• Other Databases: GeneCards:  ATG9A  Malacards:  ATG9A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044805	late nucleophagy	IBA	biological process
GO:0034497	protein localization to phagophore assembly site	IBA	biological process
GO:0000407	phagophore assembly site	IBA	cellular component
GO:0005776	autophagosome	IBA	cellular component
GO:0000422	autophagy of mitochondrion	IBA	biological process
GO:0000045	autophagosome assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0055037	recycling endosome	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0000407	phagophore assembly site	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0000421	autophagosome membrane	IDA	NOT|cellular component
GO:0000045	autophagosome assembly	IMP	biological process
GO:0000045	autophagosome assembly	IMP	biological process
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:0031902	late endosome membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal
hsa04137	Mitophagy - animal
hsa04136	Autophagy - other

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq