Gene: PIGA

Basic information

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.

Gene expression in different tissues (ENCODE)