• Gene id: 83451

Gene Summary

• Gene Symbol: ABHD11   Gene   UCSC   Ensembl
• Aliases: PP1226, WBSCR21
• Gene name: abhydrolase domain containing 11
• Alternate names: protein ABHD11, Williams Beuren syndrome chromosome region 21, abhydrolase domain-containing protein 11, alpha/beta hydrolase domain-containing protein 11,
• Gene location: 7q11.23 (73738866: 73736093)     Exons: 7     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]
• OMIM: 603715

Protein Summary

• Protein general information: Q8NFV4  
  • Name: Protein ABHD11 (EC 3. . . ) (Alpha/beta hydrolase domain containing protein 11) (Abhydrolase domain containing protein 11) (Williams Beuren syndrome chromosomal region 21 protein)
  • Length: 315  
  • Mass: 34690
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MRAGQQLASMLRWTRAWRLPREGLGPHGPSFARVPVAPSSSSGGRGGAEPRPLPLSYRLLDGEAALPAVVFLHGL
  FGSKTNFNSIAKILAQQTGRRVLTVDARNHGDSPHSPDMSYEIMSQDLQDLLPQLGLVPCVVVGHSMGGKTAMLL
  ALQRPELVERLIAVDISPVESTGVSHFATYVAAMRAINIADELPRSRARKLADEQLSSVIQDMAVRQHLLTNLVE
  VDGRFVWRVNLDALTQHLDKILAFPQRQESYLGPTLFLLGGNSQFVHPSHHPEIMRLFPRAQMQTVPNAGHWIHA
  DRPQDFIAAIRGFLV

• Structural information:
  • Interpro: IPR029058  IPR000073  
  • STRING: ENSP00000222800
• Other Databases: GeneCards:  ABHD11  Malacards:  ABHD11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005739	mitochondrion	IBA	cellular component

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
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