Homo sapiens (human): 9487
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Entry
9487 CDS
T01001
Symbol
PIGL, CHIME
Name
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class L
KO
K03434
N-acetylglucosaminylphosphatidylinositol deacetylase [EC:
3.5.1.89
]
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
H01487
CHIME syndrome
H01489
Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
9487 (PIGL)
Enzymes [BR:
hsa01000
]
3. Hydrolases
3.5 Acting on carbon-nitrogen bonds, other than peptide bonds
3.5.1 In linear amides
3.5.1.89 N-acetylglucosaminylphosphatidylinositol deacetylase
9487 (PIGL)
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SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
PIG-L
Motif
Other DBs
NCBI-GeneID:
9487
NCBI-ProteinID:
NP_004269
OMIM:
605947
HGNC:
8966
Ensembl:
ENSG00000108474
UniProt:
Q9Y2B2
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Position
17:16217210..16326411
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AA seq
252 aa
AA seq
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MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPT
VLGLARLRHWVYLLCFSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGM
QWDTEHVARVLLQHIEVNGINLVVTFDAGGVSGHSNHIALYAAVRALHSEGKLPKGCSVL
TLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQAKKAMSCHRSQLLWFRRLYIIF
SRYMRINSLSFL
NT seq
759 nt
NT seq
+upstream
nt +downstream
nt
atggaagcaatgtggctcctgtgtgtggcgttggcggtcttggcatggggcttcctctgg
gtttgggactcctcagaacgaatgaagagtcgggagcagggaggacggctgggagccgaa
agccggaccctgctggtcatagcgcaccctgacgatgaagccatgttttttgctcccaca
gtgctaggcttggcccgcctaaggcactgggtgtacctgctttgcttctctgcaggaaat
tactacaatcaaggagagactcgtaagaaagaacttttgcagagctgtgatgttttgggg
attccactctccagtgtaatgattattgacaacagggatttcccagatgacccaggcatg
cagtgggacacagagcacgtggccagagtcctccttcagcacatagaagtgaatggcatc
aatctggtggtgactttcgatgcagggggagtaagtggccacagcaatcacattgctctg
tatgcagctgtgagggccctgcactcagaagggaagttacctaaagggtgctctgtgctc
acgcttcagtctgtgaatgtgctgcgcaagtacatctcccttctggatctgcccttgtct
ctgcttcatacgcaggatgtcctcttcgtgctcaacagcaaagaagtggcacaggccaag
aaagccatgtcctgccaccgcagccagctcctctggttccgccgcctctacattatcttc
tcccggtacatgagaatcaactcactgagcttcctctga
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