• Gene id: 80055

Gene Summary

• Gene Symbol: PGAP1   Gene   UCSC   Ensembl
• Aliases: Bst1, ISPD3024, MRT42, SPG67
• Gene name: post-GPI attachment to proteins inositol deacylase 1
• Alternate names: GPI inositol-deacylase, post-GPI attachment to proteins 1, post-GPI attachment to proteins factor 1,
• Gene location: 2q33.1 (196926994: 196833003)     Exons: 31     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this ma
• OMIM: 611655

Protein Summary

• Protein general information: Q75T13  
  • Name: GPI inositol deacylase (EC 3.1. . ) (Post GPI attachment to proteins factor 1) (hPGAP1)
  • Length: 922  
  • Mass: 105383
• Sequence:

  MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKIELPKKLAKRYPAYELYLYGEGSYA
  EEHKILPLTGIPVLFLPGNAGSYKQVRSIGSIALRKAEDIDFKYHFDFFSVNFNEELVALYGGSLQKQTKFVHEC
  IKTILKLYKGQEFAPKSVAIIGHSMGGLVARALLTLKNFKHDLINLLITQATPHVAPVMPLDRFITDFYTTVNNY
  WILNARHINLTTLSVAGGFRDYQVRSGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFF
  DLIDADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWVLVKVSKWTYVAYNESEKIYFTFPLE
  NHRKIYTHVYCQSTMLDTNSWIFACINSTSMCLQGVDLSWKAELLPTIKYLTLRLQDYPSLSHLVVYVPSVRGSK
  FVVDCEFFKKEKRYIQLPVTHLFSFGLSSRKVVLNTNGLYYNLELLNFGQIYQAFKINVVSKCSAVKEEITSIYR
  LHIPWSYEDSLTIAQAPSSTEISLKLHIAQPENNTHVALFKMYTSSDCRYEVTVKTSFSQILGQVVRFHGGALPA
  YVVSNILLAYRGQLYSLFSTGCCLEYATMLDKEAKPYKVDPFVIIIKFLLGYKWFKELWDVLLLPELDAVILTCQ
  SMCFPLISLILFLFGTCTAYWSGLLSSASVRLLSSLWLALKRPSELPKDIKMISPDLPFLTIVLIIVSWTTCGAL
  AILLSYLYYVFKVVHLQASLTTFKNSQPVNPKHSRRSEKKSNHHKDSSIHHLRLSANDAEDSLRMHSTVINLLTW
  IVLLSMPSLIYWLKNLRYYFKLNPDPCKPLAFILIPTMAILGNTYTVSIKSSKLLKTTSQFPLPLAVGVIAFGSA
  HLYRLPCFVFIPLLLHALCNFM

• Structural information:
  • Interpro: IPR029058  IPR012908  IPR039529  
  • Prosite: PS00120
  • STRING: ENSP00000346809
• Other Databases: GeneCards:  PGAP1  Malacards:  PGAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050185	phosphatidylinositol deacylase activity	IBA	molecular function
GO:0006505	GPI anchor metabolic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016255	attachment of GPI anchor to protein	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016788	hydrolase activity, acting on ester bonds	TAS	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0015798	myo-inositol transport	IEA	biological process
GO:0021871	forebrain regionalization	IEA	biological process
GO:0042578	phosphoric ester hydrolase activity	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0060322	head development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0042578	phosphoric ester hydrolase activity	ISS	molecular function
GO:0015798	myo-inositol transport	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0004518	nuclease activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Autosomal recessive mental retardation-42	KEGG:H01485
Autosomal recessive mental retardation	KEGG:H00768
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Autosomal recessive mental retardation-42	KEGG:H01485
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R