• Gene id: 84971

Gene Summary

• Gene Symbol: ATG4D   Gene   UCSC   Ensembl
• Aliases: APG4-D, APG4D, AUTL4
• Gene name: autophagy related 4D cysteine peptidase
• Alternate names: cysteine protease ATG4D, APG4 autophagy 4 homolog D, ATG4 autophagy related 4 homolog D, AUT-like 4 cysteine endopeptidase, autophagin-4, autophagy-related cysteine endopeptidase 4, autophagy-related protein 4 homolog D, cysteine protease involved in autophagy,
• Gene location: 19p13.2 (10543896: 10553417)     Exons: 10     NC_000019.10
• Gene summary(Entrez): Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, a
• OMIM: 603145

Protein Summary

• Protein general information: Q86TL0  
  • Name: Cysteine protease ATG4D (EC 3.4.22. ) (AUT like 4 cysteine endopeptidase) (Autophagin 4) (Autophagy related cysteine endopeptidase 4) (Autophagy related protein 4 homolog D) [Cleaved into: Cysteine protease ATG4D, mitochondrial]
  • Length: 474  
  • Mass: 52922
  • Tissue specificity: Mainly expressed in skeletal muscle and, to a lower extent, in testis. {ECO
• Sequence:

  MNSVSPAAAQYRSSSPEDARRRPEARRPRGPRGPDPNGLGPSGASGPALGSPGAGPSEPDEVDKFKAKFLTAWNN
  VKYGWVVKSRTSFSKISSIHLCGRRYRFEGEGDIQRFQRDFVSRLWLTYRRDFPPLPGGCLTSDCGWGCMLRSGQ
  MMLAQGLLLHFLPRDWTWAEGMGLGPPELSGSASPSRYHGPARWMPPRWAQGAPELEQERRHRQIVSWFADHPRA
  PFGLHRLVELGQSSGKKAGDWYGPSLVAHILRKAVESCSDVTRLVVYVSQDCTVYKADVARLVARPDPTAEWKSV
  VILVPVRLGGETLNPVYVPCVKELLRCELCLGIMGGKPRHSLYFIGYQDDFLLYLDPHYCQPTVDVSQADFPLES
  FHCTSPRKMAFAKMDPSCTVGFYAGDRKEFETLCSELTRVLSSSSATERYPMFTLAEGHAQDHSLDDLCSQLAQP
  TLRLPRTGRLLRAKRPSSEDFVFL

• Structural information:
  • Interpro: IPR038765  IPR005078  
  • STRING: ENSP00000311318
• Other Databases: GeneCards:  ATG4D  Malacards:  ATG4D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0008234	cysteine-type peptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray