Tag | Content |
---|---|
Uniprot ID | P37287; B4E0V2; Q16025; Q16250; |
Entrez ID | 5277 |
Genbank protein ID | AAH38236.1; AAD13929.1; BAG64564.1; AAD14160.1; BAA05966.1; CAB57276.1; BAA02019.1; |
Genbank nucleotide ID | NM_002641.3; NM_020473.3; XM_017029581.1; |
Ensembl protein ID | ENSP00000489528; ENSP00000442653; ENSP00000369820; ENSP00000489540; |
Ensembl nucleotide ID | ENSG00000165195 |
Gene name | Phosphatidylinositol N-acetylglucosaminyltransferase subunit A |
Gene symbol | PIGA |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis. |
Sequence | MACRGGAGNG HRASATLSRV SPGSLYTCRT RTHNICMVSD FFYPNMGGVE SHIYQLSQCL 60 IERGHKVIIV THAYGNRKGI RYLTSGLKVY YLPLKVMYNQ STATTLFHSL PLLRYIFVRE 120 RVTIIHSHSS FSAMAHDALF HAKTMGLQTV FTDHSLFGFA DVSSVLTNKL LTVSLCDTNH 180 IICVSYTSKE NTVLRAALNP EIVSVIPNAV DPTDFTPDPF RRHDSITIVV VSRLVYRKGI 240 DLLSGIIPEL CQKYPDLNFI IGGEGPKRII LEEVRERYQL HDRVRLLGAL EHKDVRNVLV 300 QGHIFLNTSL TEAFCMAIVE AASCGLQVVS TRVGGIPEVL PENLIILCEP SVKSLCEGLE 360 KAIFQLKSGT LPAPENIHNI VKTFYTWRNV AERTEKVYDR VSVEAVLPMD KRLDRLISHC 420 GPVTGYIFAL LAVFNFLFLI FLRWMTPDSI IDVAIDATGP RGAWTNNYSH SKRGGENNEI 480 SETR 484 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.