• Gene id: 63874

Gene Summary

• Gene Symbol: ABHD4   Gene   UCSC   Ensembl
• Aliases: ABH4
• Gene name: abhydrolase domain containing 4, N-acyl phospholipase B
• Alternate names: (Lyso)-N-acylphosphatidylethanolamine lipase, abhydrolase domain containing 4, abhydrolase domain-containing protein 4, alpha/beta hydrolase domain-containing protein 4, alpha/beta-hydrolase 4, lyso-N-acylphosphatidylethanolamine lipase, protein ABHD4,
• Gene location: 14q11.2 (22598237: 22612863)     Exons: 8     NC_000014.9
• OMIM: 600835

Protein Summary

• Protein general information: Q8TB40  
  • Name: (Lyso) N acylphosphatidylethanolamine lipase (EC 3.1.1. ) (Alpha/beta hydrolase domain containing protein 4) (Abhydrolase domain containing protein 4) (Alpha/beta hydrolase 4)
  • Length: 342  
  • Mass: 38794
• Sequence:

  MADDLEQQSQGWLSSWLPTWRPTSMSQLKNVEARILQCLQNKFLARYVSLPNQNKIWTVTVSPEQNDRTPLVMVH
  GFGGGVGLWILNMDSLSARRTLHTFDLLGFGRSSRPAFPRDPEGAEDEFVTSIETWRETMGIPSMILLGHSLGGF
  LATSYSIKYPDRVKHLILVDPWGFPLRPTNPSEIRAPPAWVKAVASVLGRSNPLAVLRVAGPWGPGLVQRFRPDF
  KRKFADFFEDDTISEYIYHCNAQNPSGETAFKAMMESFGWARRPMLERIHLIRKDVPITMIYGSDTWIDTSTGKK
  VKMQRPDSYVRDMEIKGASHHVYADQPHIFNAVVEEICDSVD

• Structural information:
  • Protein Domains: (70..20-)
    (/note="AB-hydrolase-1)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR029058  IPR000073  
  • STRING: ENSP00000414558
• Other Databases: GeneCards:  ABHD4  Malacards:  ABHD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042171	lysophosphatidic acid acyltransferase activity	IBA	molecular function
GO:0006654	phosphatidic acid biosynthetic process	IBA	biological process
GO:0005811	lipid droplet	IBA	cellular component
GO:0004622	lysophospholipase activity	IBA	molecular function
GO:0055088	lipid homeostasis	IBA	biological process
GO:0052689	carboxylic ester hydrolase activity	IBA	molecular function
GO:0070292	N-acylphosphatidylethanolamine metabolic process	ISS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0036152	phosphatidylethanolamine acyl-chain remodeling	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016787	hydrolase activity	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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