KEGG   Homo sapiens (human): 51604
Entry
51604             CDS       T01001                                 
Symbol
PIGT, CGI-06, MCAHS3, NDAP, PNH2
Name
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class T
  KO
K05292  GPI-anchor transamidase subunit T
Organism
hsa  Homo sapiens (human)
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
hsa01100  Metabolic pathways
Network
nt06018  GPI-anchor biosynthesis
  Element
N00748  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
    51604 (PIGT)
SSDB
Motif
Pfam: Gpi16
Other DBs
NCBI-GeneID: 51604
NCBI-ProteinID: NP_057021
OMIM: 610272
HGNC: 14938
Ensembl: ENSG00000124155
Pharos: Q969N2(Tbio)
UniProt: Q969N2
Structure
LinkDB
Position
20:45416141..45426241
AA seq 578 aa
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQR
EGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTV
TDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREV
VCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPP
TTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSG
YGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQ
DRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCY
GSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL
NT seq 1737 nt   +upstreamnt  +downstreamnt
atggcggcggctatgccgcttgctctgctcgtcctgttgctcctggggcccggcggctgg
tgccttgcagaacccccacgcgacagcctgcgggaggaacttgtcatcaccccgctgcct
tccggggacgtagccgccacattccagttccgcacgcgctgggattcggagcttcagcgg
gaaggagtgtcccattacaggctctttcccaaagccctggggcagctgatctccaagtat
tctctacgggagctgcacctgtcattcacacaaggcttttggaggacccgatactggggg
ccacccttcctgcaggccccatcaggtgcagagctgtgggtctggttccaagacactgtc
actgatgtggataaatcttggaaggagctcagtaatgtcctctcagggatcttctgcgcc
tctctcaacttcatcgactccaccaacacagtcactcccactgcctccttcaaacccctg
ggtctggccaatgacactgaccactactttctgcgctatgctgtgctgccgcgggaggtg
gtctgcaccgaaaacctcaccccctggaagaagctcttgccctgtagttccaaggcaggc
ctctctgtgctgctgaaggcagatcgcttgttccacaccagctaccactcccaggcagtg
catatccgccctgtttgcagaaatgcacgctgtactagcatctcctgggagctgaggcag
accctgtcagttgtatttgatgccttcatcacggggcagggaaagaaagactggtccctc
ttccggatgttctcccgaaccctcacggagccctgccccctggcttcagagagccgagtc
tatgtggacatcaccacctacaaccaggacaacgagacattagaggtgcacccacccccg
accactacatatcaggacgtcatcctaggcactcggaagacctatgccatctatgacttg
cttgacaccgccatgatcaacaactctcgaaacctcaacatccagctcaagtggaagaga
cccccagagaatgaggcccccccagtgcccttcctgcatgcccagcggtacgtgagtggc
tatgggctgcagaagggggagctgagcacactgctgtacaacacccacccataccgggcc
ttcccggtgctgctgctggacaccgtaccctggtatctgcggctgtatgtgcacaccctc
accatcacctccaagggcaaggagaacaaaccaagttacatccactaccagcctgcccag
gaccggctgcaaccccacctcctggagatgctgattcagctgccggccaactcagtcacc
aaggtttccatccagtttgagcgggcgctgctgaagtggaccgagtacacgccagatcct
aaccatggcttctatgtcagcccatctgtcctcagcgcccttgtgcccagcatggtagca
gccaagccagtggactgggaagagagtcccctcttcaacagcctgttcccagtctctgat
ggctctaactactttgtgcggctctacacggagccgctgctggtgaacctgccgacaccg
gacttcagcatgccctacaacgtgatctgcctcacgtgcactgtggtggccgtgtgctat
ggctccttctacaatctcctcacccgaaccttccacatcgaggagccccgcacaggtggc
ctggccaagcggctggccaaccttatccggcgcgcccgaggtgtccccccactctga

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