KEGG   Homo sapiens (human): 5277Help
Entry
5277              CDS       T01001                                 

Gene name
PIGA, GPI3, MCAHS2, PIG-A, PNH1
Definition
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class A
  KO
K03857  phosphatidylinositol N-acetylglucosaminyltransferase subunit A [EC:2.4.1.198]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00065  GPI-anchor biosynthesis, core oligosaccharide
Network
nt06018  GPI-anchor biosynthesis
  Element
N00748  GPI-anchor biosynthesis
N00749  PGAP1 deficiency in GPI-anchor biosynthesis
N00750  PIGT deficiency in GPI-anchor biosynthesis
N00751  PIGO deficiency in GPI-anchor biosynthesis
N00752  PIGN deficiency in GPI-anchor biosynthesis
N00753  PIGV deficiency in GPI-anchor biosynthesis
N00754  PIGM deficiency in GPI-anchor biosynthesis
N00755  PIGW deficiency in GPI-anchor biosynthesis
N00756  PIGL deficiency in GPI-anchor biosynthesis
N00757  PIGA deficiency in GPI-anchor biosynthesis
Disease
H01053  Paroxysmal nocturnal hemoglobinuria
H01486  Multiple congenital anomalies-hypotonia-seizures syndrome
H01489  Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    5277 (PIGA)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    5277 (PIGA)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.198  phosphatidylinositol N-acetylglucosaminyltransferase
     5277 (PIGA)
Glycosyltransferases [BR:hsa01003]
 GPI-anchor biosynthesis
  Core oligosaccharide
   5277 (PIGA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PIGA Glyco_transf_4 Glycos_transf_1 Glyco_trans_1_4 Glyco_trans_4_4 Glyco_trans_1_2 Glyco_transf_5
Motif
Other DBs
NCBI-GeneID: 5277
NCBI-ProteinID: NP_002632
OMIM: 311770
HGNC: 8957
Ensembl: ENSG00000165195
Vega: OTTHUMG00000021174
Pharos: P37287(Tbio)
UniProt: P37287 A0A2K4ZA02
Position
Xp22.2
AA seq 484 aa AA seqDB search
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCL
IERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRE
RVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNH
IICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLE
KAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR
NT seq 1455 nt NT seq  +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

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