| Entry |
|
| Gene name |
PIGA, GPI3, MCAHS2, PIG-A
|
| Definition |
phosphatidylinositol glycan anchor biosynthesis, class A (EC:2.4.1.198)
|
| Orthology |
| phosphatidylinositol glycan, class A [EC: 2.4.1.198] |
|
| Organism |
|
| Pathway |
| Glycosylphosphatidylinositol(GPI)-anchor biosynthesis | | Metabolic pathways |
|
| Module |
| GPI-anchor biosynthesis, core oligosaccharide |
|
| Disease |
| Paroxysmal nocturnal hemoglobinuria (PNH) |
|
| Class |
Metabolism; Glycan biosynthesis and metabolism; Glycosylphosphatidylinositol(GPI)-anchor biosynthesis [PATH: hsa00563]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
Xp22.1
|
| AA seq |
484 aa  
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCL
IERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRE
RVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNH
IICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLE
KAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR |
| NT seq |
1455 nt  +upstreamnt +downstreamnt
atggcctgtagaggaggagctgggaatggccaccgtgcctcagctacactctctcgggtt
agccctggaagtctttacacatgtagaacccgtacccataatatatgcatggtatctgac
tttttctacccaaatatgggaggcgtggaaagccacatttaccagctctctcagtgcctg
attgaaagagggcataaggttataattgtcacccatgcttatggaaatcgaaaaggcatc
cgttacctcaccagtggcctcaaagtctattacttgcctctgaaagtcatgtacaaccag
tctacagccacgaccctctttcacagtctgccattgctcaggtacatatttgttcgggag
agagtcacgataatccattcacatagttctttttctgctatggcccatgatgctctcttc
cacgccaagacaatggggcttcagacagtcttcacggaccattccctttttggatttgct
gatgtcagctcggtgcttacaaacaagcttctaaccgtgtctctttgtgatacaaaccac
atcatttgtgtgtcttatactagtaaggaaaatactgtactaagagcagcactgaatcct
gaaatagtgtccgtcattcctaatgctgtagatcctactgacttcactccagacccattt
agaaggcatgatagtataactattgttgttgtcagcagacttgtttacagaaaagggatc
gatttgcttagtggtataatacctgaactctgtcagaaatatccagatttaaatttcata
attggaggagagggaccaaagagaatcattttggaagaagttcgggaaagataccagctg
catgacagggtgcgtcttttgggagctttagaacacaaggatgttagaaatgtcttagtt
caaggacatatttttctgaatacctcccttactgaagcattctgcatggcgatcgtggaa
gcagccagttgtggtttacaggttgtaagtaccagagttggtggaattcctgaggtgctt
ccagaaaaccttattattttatgtgagccttcagtaaaatctttgtgtgaaggattggaa
aaggctattttccaactgaagtcagggacattgccagctccagaaaacatccataacata
gtaaagactttctacacctggaggaatgttgcagaaagaactgaaaaggtatatgaccgg
gtatcagtggaagctgtgttgccaatggacaaacgactggacagacttatttctcactgc
ggcccagtaacaggctacatctttgctttgttggcagttttcaacttcctcttcctcatt
ttcttgagatggatgactccagattctatcattgatgttgcaatagatgccactgggcca
cggggtgcctggactaataactattctcacagtaaaagagggggtgagaataatgagata
tctgaaaccaggtag |