• Gene id: 8733

Gene Summary

• Gene Symbol: GPAA1   Gene   UCSC   Ensembl
• Aliases: GAA1, GPIBD15, hGAA1
• Gene name: glycosylphosphatidylinositol anchor attachment 1
• Alternate names: glycosylphosphatidylinositol anchor attachment 1 protein, GAA1 protein homolog, GPAA1P anchor attachment protein 1 homolog, GPI anchor attachment protein 1, GPI transamidase subunit, anchor attachment protein 1 (Gaa1p, yeast) homolog, glycophosphatidylinositol ,
• Gene location: 8q24.3 (144082633: 144086215)     Exons: 12     NC_000008.11
• Gene summary(Entrez): Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mR
• OMIM: 603048

Protein Summary

• Protein general information: O43292  
  • Name: Glycosylphosphatidylinositol anchor attachment 1 protein (GPI anchor attachment protein 1) (GAA1 protein homolog) (hGAA1)
  • Length: 621  
  • Mass: 67623
  • Tissue specificity: Ubiquitously expressed in fetal and adult tissues. Expressed at higher levels in fetal tissues than adult tissues. {ECO
• Sequence:

  MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFAR
  DFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPC
  GSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVAL
  ELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASG
  RPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYM
  PAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQH
  VATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLA
  TTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLF
  PLLSLGLYPCWLLFWNVLFWK

• Structural information:
  • Interpro: IPR007246  
  • STRING: ENSP00000347206
• Other Databases: GeneCards:  GPAA1  Malacards:  GPAA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016255	attachment of GPI anchor to protein	IBA	biological process
GO:0042765	GPI-anchor transamidase complex	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042765	GPI-anchor transamidase complex	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
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:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0042765	GPI-anchor transamidase complex	IDA	cellular component
GO:0042765	GPI-anchor transamidase complex	IDA	cellular component
GO:0042765	GPI-anchor transamidase complex	IDA	cellular component
GO:0042765	GPI-anchor transamidase complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015631	tubulin binding	NAS	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0016255	attachment of GPI anchor to protein	TAS	biological process
GO:0016255	attachment of GPI anchor to protein	NAS	biological process
GO:0006621	protein retention in ER lumen	NAS	biological process
GO:0065003	protein-containing complex assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034235	GPI anchor binding	IMP	contributes to
GO:0003923	GPI-anchor transamidase activity	NAS	contributes to

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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