KEGG   Homo sapiens (human): 9487Help
Entry
9487              CDS       T01001                                 

Gene name
PIGL, CHIME
Definition
(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
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
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PIG-L
Motif
Other DBs
NCBI-GeneID: 9487
NCBI-ProteinID: NP_004269
OMIM: 605947
HGNC: 8966
Ensembl: ENSG00000108474
Vega: OTTHUMG00000059346
Pharos: Q9Y2B2(Tbio)
UniProt: Q9Y2B2
LinkDB All DBs
Position
17p11.2
AA seq 252 aa AA seqDB search
MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPT
VLGLARLRHWVYLLCFSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGM
QWDTEHVARVLLQHIEVNGINLVVTFDAGGVSGHSNHIALYAAVRALHSEGKLPKGCSVL
TLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQAKKAMSCHRSQLLWFRRLYIIF
SRYMRINSLSFL
NT seq 759 nt NT seq  +upstreamnt  +downstreamnt
atggaagcaatgtggctcctgtgtgtggcgttggcggtcttggcatggggcttcctctgg
gtttgggactcctcagaacgaatgaagagtcgggagcagggaggacggctgggagccgaa
agccggaccctgctggtcatagcgcaccctgacgatgaagccatgttttttgctcccaca
gtgctaggcttggcccgcctaaggcactgggtgtacctgctttgcttctctgcaggaaat
tactacaatcaaggagagactcgtaagaaagaacttttgcagagctgtgatgttttgggg
attccactctccagtgtaatgattattgacaacagggatttcccagatgacccaggcatg
cagtgggacacagagcacgtggccagagtcctccttcagcacatagaagtgaatggcatc
aatctggtggtgactttcgatgcagggggagtaagtggccacagcaatcacattgctctg
tatgcagctgtgagggccctgcactcagaagggaagttacctaaagggtgctctgtgctc
acgcttcagtctgtgaatgtgctgcgcaagtacatctcccttctggatctgcccttgtct
ctgcttcatacgcaggatgtcctcttcgtgctcaacagcaaagaagtggcacaggccaag
aaagccatgtcctgccaccgcagccagctcctctggttccgccgcctctacattatcttc
tcccggtacatgagaatcaactcactgagcttcctctga

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