Homo sapiens (human): 5283
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Entry
5283 CDS
T01001
Symbol
PIGH, GPI-H
Name
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class H
KO
K03858
phosphatidylinositol N-acetylglucosaminyltransferase subunit H
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
Disease
H01489
Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
5283 (PIGH)
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Gene cluster
GFIT
Motif
Pfam:
PIG-H
Motif
Other DBs
NCBI-GeneID:
5283
NCBI-ProteinID:
NP_004560
OMIM:
600154
HGNC:
8964
Ensembl:
ENSG00000100564
UniProt:
Q14442
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Position
14:complement(67589306..67600301)
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AA seq
188 aa
AA seq
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MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCE
NSMILSAAIFITLLGLLGYLHFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVK
DIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQSAKPRLDCLIEVYRSCQEILAH
QKATSTSP
NT seq
567 nt
NT seq
+upstream
nt +downstream
nt
atggaggatgagcggagcttttcggatatctgcggcggccgcctggcgctgcagcgccgc
tactactccccgtcctgccgggaattctgcctcagctgccctcggctctcgctgcgttcg
ctcaccgctgtcacctgcacggtgtggctggcggcctacggactcttcaccctctgcgag
aacagcatgatcctctctgctgccatcttcatcaccctcttaggtctgcttggttatctc
cattttgtgaagattgatcaggagactctgttaatcattgattcccttggcattcagatg
acttcatcttatgcttcaggcaaagaaagcactaccttcatagaaatgggcaaggtcaag
gatattgtcatcaatgaggccatttacatgcagaaggtgatttactacctctgcatctta
ttgaaagatccagtggaaccacatgggatatcccaagtagtacccgtcttccagagtgcc
aagccccggctggactgcttgattgaagtatacaggagctgccaggagatcctggcacac
cagaaagccacatcaacaagcccatga
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