• Gene id: 58986

Gene Summary

• Gene Symbol: PGAP6   Gene   UCSC   Ensembl
• Aliases: GPI-PLA2, M83, TMEM6, TMEM8, TMEM8A
• Gene name: post-glycosylphosphatidylinositol attachment to proteins 6
• Alternate names: post-GPI attachment to proteins factor 6, GPI processing phospholipase A2, five-span transmembrane protein M83, transmembrane protein 6, transmembrane protein 8 (five membrane-spanning domains), transmembrane protein 8A,
• Gene location: 16p13.3 (381977: 370787)     Exons: 12     NC_000016.10
• OMIM: 0

Protein Summary

• Protein general information: Q9HCN3  
  • Name: Post GPI attachment to proteins factor 6 (EC 3.1.1.4) (GPI processing phospholipase A2) (GPI PLA2) (Protein M83) (Transmembrane protein 6) (Transmembrane protein 8) (Transmembrane protein 8A)
  • Length: 771  
  • Mass: 84761
  • Tissue specificity: Expressed in pancreas, placenta, spleen, liver, kidney, bone marrow, peripheral blood leukocytes and tonsil. {ECO
• Sequence:

  MGRAGTGTGGEAVAAVVAGPLLLLLLARPPPASAGYSGKSEVGLVSEHFSQAPQRLSFYSWYGSARLFRFRVPPD
  AVLLRWLLQVSRESGAACTDAEITVHFRSGAPPVINPLGTSFPDDTAVQPSFQVGVPLSTTPRSNASVNVSHPAP
  GDWFVAAHLPPSSQKIELKGLAPTCAYVFQPELLVTRVVEISIMEPDVPLPQTLLSHPSYLKVFVPDYTRELLLE
  LRDCVSNGSLGCPVRLTVGPVTLPSNFQKVLTCTGAPWPCRLLLPSPPWDRWLQVTAESLVGPLGTVAFSAVAAL
  TACRPRSVTIQPLLQSSQNQSFNASSGLLSPSPDHQDLGRSGRVDRSPFCLTNYPVTREDMDVVSVHFQPLDRVS
  VRVCSDTPSVMRLRLNTGMDSGGSLTISLRANKTEMRNETVVVACVNAASPFLGFNTSLNCTTAFFQGYPLSLSA
  WSRRANLIIPYPETDNWYLSLQLMCPENAEDCEQAVVHVETTLYLVPCLNDCGPYGQCLLLRRHSYLYASCSCKA
  GWRGWSCTDNSTAQTVAQQRAATLLLTLSNLMFLAPIAVSVRRFFLVEASVYAYTMFFSTFYHACDQPGEAVLCI
  LSYDTLQYCDFLGSGAAIWVTILCMARLKTVLKYVLFLLGTLVIAMSLQLDRRGMWNMLGPCLFAFVIMASMWAY
  RCGHRRQCYPTSWQRWAFYLLPGVSMASVGIAIYTSMMTSDNYYYTHSIWHILLAGSAALLLPPPDQPAEPWACS
  QKFPCHYQICKNDREELYAVT

• Structural information:
  • Protein Domains: (497..53-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR013032  IPR000742  IPR021910  
  • Prosite: PS00022 PS01186 PS50026
  • STRING: ENSP00000401338
• Other Databases: GeneCards:  PGAP6  Malacards:  PGAP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0102568	phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine)	IEA	molecular function
GO:0004623	phospholipase A2 activity	IEA	molecular function
GO:0102567	phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine)	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq