• Gene id: 84696

Gene Summary

• Gene Symbol: ABHD1   Gene   UCSC   Ensembl
• Aliases: LABH1
• Gene name: abhydrolase domain containing 1
• Alternate names: protein ABHD1, abhydrolase domain-containing protein 1, alpha/beta hydrolase domain-containing protein 1, lung alpha/beta hydrolase 1, testicular tissue protein Li 5,
• Gene location: 2p23.3 (27123779: 27131113)     Exons: 18     NC_000002.12
• Gene summary(Entrez): This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, J
• OMIM: 612195

Protein Summary

• Protein general information: Q96SE0  
  • Name: Protein ABHD1 (EC 3.1.1. ) (Alpha/beta hydrolase domain containing protein 1) (Abhydrolase domain containing protein 1) (Lung alpha/beta hydrolase 1)
  • Length: 405  
  • Mass: 45207
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MLSSFLSPQNGTWADTFSLLLALAVALYLGYYWACVLQRPRLVAGPQFLAFLEPHCSITTETFYPTLWCFEGRLQ
  SIFQVLLQSQPLVLYQSDILQTPDGGQLLLDWAKQPDSSQDPDPTTQPIVLLLPGITGSSQDTYVLHLVNQALRD
  GYQAVVFNNRGCRGEELRTHRAFCASNTEDLETVVNHIKHRYPQAPLLAVGISFGGILVLNHLAQARQAAGLVAA
  LTLSACWDSFETTRSLETPLNSLLFNQPLTAGLCQLVERNRKVIEKVVDIDFVLQARTIRQFDERYTSVAFGYQD
  CVTYYKAASPRTKIDAIRIPVLYLSAADDPFSPVCALPIQAAQHSPYVALLITARGGHIGFLEGLLPWQHWYMSR
  LLHQYAKAIFQDPEGLPDLRALLPSEDRNS

• Structural information:
  • Protein Domains: (123..36-)
    (/note="AB-hydrolase-1)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR029058  IPR000073  IPR000952  IPR012020  
  • Prosite: PS01133
  • STRING: ENSP00000326491
• Other Databases: GeneCards:  ABHD1  Malacards:  ABHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047372	acylglycerol lipase activity	IBA	molecular function
GO:0044255	cellular lipid metabolic process	IBA	biological process
GO:0034338	short-chain carboxylesterase activity	IBA	molecular function
GO:0008126	acetylesterase activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq