• Gene id: 79575

Gene Summary

• Gene Symbol: ABHD8   Gene   UCSC   Ensembl
• Gene name: abhydrolase domain containing 8
• Alternate names: protein ABHD8, abhydrolase domain-containing protein 8, alpha/beta hydrolase domain-containing protein 8,
• Gene location: 19p13.11 (17303424: 17292130)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

Protein Summary

• Protein general information: Q96I13  
  • Name: Protein ABHD8 (EC 3. . . ) (Alpha/beta hydrolase domain containing protein 8) (Abhydrolase domain containing protein 8)
  • Length: 439  
  • Mass: 47331
• Sequence:

  MLTGVTDGIFCCLLGTPPNAVGPLESVESSDGYTFVEVKPGRVLRVKHAGPAPAAAPPPPSSASSDAAQGDLSGL
  VRCQRRITVYRNGRLLVENLGRAPRADLLHGQNGSGEPPAALEVELADPAGSDGRLAPGSAGSGSGSGSGGRRRR
  ARRPKRTIHIDCEKRITSCKGAQADVVLFFIHGVGGSLAIWKEQLDFFVRLGYEVVAPDLAGHGASSAPQVAAAY
  TFYALAEDMRAIFKRYAKKRNVLIGHSYGVSFCTFLAHEYPDLVHKVIMINGGGPTALEPSFCSIFNMPTCVLHC
  LSPCLAWSFLKAGFARQGAKEKQLLKEGNAFNVSSFVLRAMMSGQYWPEGDEVYHAELTVPVLLVHGMHDKFVPV
  EEDQRMAEILLLAFLKLIDEGSHMVMLECPETVNTLLHEFLLWEPEPSPKALPEPLPAPPEDKK

• Structural information:
  • Protein Domains: (177..27-)
    (/note="AB-hydrolase-1)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR029058  IPR000073  IPR000639  
  • STRING: ENSP00000247706
• Other Databases: GeneCards:  ABHD8  Malacards:  ABHD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq