Homo sapiens (human): 51604
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Entry
51604 CDS
T01001
Symbol
PIGT, CGI-06, MCAHS3, NDAP, PIG-T, 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)
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Gene cluster
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Motif
Pfam:
Gpi16
Motif
Other DBs
NCBI-GeneID:
51604
NCBI-ProteinID:
NP_057021
OMIM:
610272
HGNC:
14938
Ensembl:
ENSG00000124155
UniProt:
Q969N2
Structure
PDB
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All DBs
Position
20:45416141..45426241
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AA seq
578 aa
AA seq
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MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQR
EGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTV
TDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREV
VCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPP
TTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSG
YGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQ
DRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCY
GSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL
NT seq
1737 nt
NT seq
+upstream
nt +downstream
nt
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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