• Gene id: 161829

Gene Summary

• Gene Symbol: EXD1   Gene   UCSC   Ensembl
• Aliases: EXDL1
• Gene name: exonuclease 3'-5' domain containing 1
• Alternate names: piRNA biogenesis protein EXD1, exonuclease 3'-5' domain-containing protein 1, exonuclease 3'-5' domain-like-containing protein 1, inactive exonuclease EXD1,
• Gene location: 15q15.1 (41231073: 41182727)     Exons: 14     NC_000015.10

Protein Summary

• Protein general information: Q8NHP7  
  • Name: piRNA biogenesis protein EXD1 (Exonuclease 3' 5' domain containing protein 1) (Exonuclease 3' 5' domain like containing protein 1) (Inactive exonuclease EXD1)
  • Length: 514  
  • Mass: 58335
• Sequence:

  MEDSEFLAYVELLDEVEQGSVRAKASSVSLHAERTWMEKMKVEDLNVCEPASPAPEAPATSLLNDLKYSPSEEEE
  VTYTVINQFQQKFGAAILHIKKQNVLSVAAEGANVCRHGKLCWLQVATNCRVYLFDIFLLGSRAFHNGLQMILED
  KRILKVIHDCRWLSDCLSHQYGILLNNVFDTQVADVLQFSMETGGYLPNCITTLQESLIKHLQVAPKYLSFLEKR
  QKLIQENPEVWFIRPVSPSLLKILALEATYLLPLRLALLDEMMSDLTTLVDGYLNTYREGSADRLGGTEPTCMEL
  PEELLQLKDFQKQRREKAAREYRVNAQGLLIRTVLQPKKLVTETAGKEEKVKGFLFGKNFRIDKAPSFTSQDFHG
  DVNLLKEESLNKQATNPQHLPPTEEGETSEDSSNKLICTKSKGSEDQRITQKEHFMTPKHEFQASLSLKEETEQL
  LMVENKEDLKCTKQAVSMSSFPQETRVSPSDTFYPIRKTVVSTLPPCPALEKIDSWISPFLNLP

• Structural information:
  • Protein Domains: (30..12-)
    (/note="3'-5'-exonuclease)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR002562  IPR012337  IPR036397  
  • STRING: ENSP00000415056
• Other Databases: GeneCards:  EXD1  Malacards:  EXD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990923	PET complex	ISS	cellular component
GO:0043186	P granule	ISS	cellular component
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0008408	3'-5' exonuclease activity	ISS	NOT|molecular function
GO:0003723	RNA binding	ISS	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990923	PET complex	IEA	cellular component
GO:0034587	piRNA metabolic process	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)