• Gene id: 51104

Gene Summary

• Gene Symbol: ABHD17B   Gene   UCSC   Ensembl
• Aliases: C9orf77, CGI-67, FAM108B1
• Gene name: abhydrolase domain containing 17B, depalmitoylase
• Alternate names: alpha/beta hydrolase domain-containing protein 17B, abhydrolase domain containing 17B, abhydrolase domain-containing protein 17B, abhydrolase domain-containing protein FAM108B1, epididymis secretory sperm binding protein, family with sequence similarity 108, m,
• Gene location: 9q21.13 (71911535: 71862451)     Exons: 8     NC_000009.12
• OMIM: 617943

Protein Summary

• Protein general information: Q5VST6  
  • Name: Alpha/beta hydrolase domain containing protein 17B (Abhydrolase domain containing protein 17B) (EC 3.1.2.22)
  • Length: 288  
  • Mass: 32215
• Sequence:

  MNNLSFSELCCLFCCPPCPGKIASKLAFLPPDPTYTLMCDESGSRWTLHLSERADWQYSSREKDAIECFMTRTSK
  GNRIACMFVRCSPNAKYTLLFSHGNAVDLGQMSSFYIGLGSRINCNIFSYDYSGYGASSGKPTEKNLYADIEAAW
  LALRTRYGIRPENVIIYGQSIGTVPSVDLAARYESAAVILHSPLTSGMRVAFPDTKKTYCFDAFPNIDKISKITS
  PVLIIHGTEDEVIDFSHGLALFERCQRPVEPLWVEGAGHNDVELYGQYLERLKQFVSQELVNL

• Structural information:
  • Interpro: IPR029058  IPR022742  
  • STRING: ENSP00000366240
• Other Databases: GeneCards:  ABHD17B  Malacards:  ABHD17B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0008474	palmitoyl-(protein) hydrolase activity	IBA	molecular function
GO:0010008	endosome membrane	IBA	cellular component
GO:0002084	protein depalmitoylation	IBA	biological process
GO:0099175	regulation of postsynapse organization	IBA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0008474	palmitoyl-(protein) hydrolase activity	IEA	molecular function
GO:0099175	regulation of postsynapse organization	IEA	biological process
GO:0099031	anchored component of postsynaptic density membrane	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:1902817	negative regulation of protein localization to microtubule	IEA	biological process
GO:1902473	regulation of protein localization to synapse	IEA	biological process
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0002084	protein depalmitoylation	IEA	biological process
GO:0099033	anchored component of postsynaptic recycling endosome membrane	IEA	cellular component
GO:1905668	positive regulation of protein localization to endosome	IEA	biological process
GO:1902950	regulation of dendritic spine maintenance	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0008474	palmitoyl-(protein) hydrolase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0018345	protein palmitoylation	IMP	biological process
GO:0008474	palmitoyl-(protein) hydrolase activity	IMP	molecular function
GO:0018345	protein palmitoylation	IGI	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R