Homo sapiens (human): 94005
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Entry
94005 CDS
T01001
Symbol
PIGS, DEE95, GPIBD18, PIG-S
Name
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class S
KO
K05291
GPI-anchor transamidase subunit S
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
H00606
Early infantile epileptic encephalopathy
H01489
Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
94005 (PIGS)
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Paralog
Gene cluster
GFIT
Motif
Pfam:
PIG-S
Motif
Other DBs
NCBI-GeneID:
94005
NCBI-ProteinID:
NP_149975
OMIM:
610271
HGNC:
14937
Ensembl:
ENSG00000087111
UniProt:
Q96S52
Q8NBL9
Q96IR5
Structure
PDB
PDBj
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All DBs
Position
17:complement(28553387..28571524)
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AA seq
555 aa
AA seq
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MAAAGAAATHLEVARGKRAALFFAAVAIVLGLPLWWKTTETYRASLPYSQISGLNALQLR
LMVPVTVVFTRESVPLDDQEKLPFTVVHEREIPLKYKMKIKCRFQKAYRRALDHEEEALS
SGSVQEAEAMLDEPQEQAEGSLTVYVISEHSSLLPQDMMSYIGPKRTAVVRGIMHREAFN
IIGRRIVQVAQAMSLTEDVLAAALADHLPEDKWSAEKRRPLKSSLGYEITFSLLNPDPKS
HDVYWDIEGAVRRYVQPFLNALGAAGNFSVDSQILYYAMLGVNPRFDSASSSYYLDMHSL
PHVINPVESRLGSSAASLYPVLNFLLYVPELAHSPLYIQDKDGAPVATNAFHSPRWGGIM
VYNVDSKTYNASVLPVRVEVDMVRVMEVFLAQLRLLFGIAQPQLPPKCLLSGPTSEGLMT
WELDRLLWARSVENLATATTTLTSLAQLLGKISNIVIKDDVASEVYKAVAAVQKSAEELA
SGHLASAFVASQEAVTSSELAFFDPSLLHLLYFPDDQKFAIYIPLFLPMAVPILLSLVKI
FLETRKSWRKPEKTD
NT seq
1668 nt
NT seq
+upstream
nt +downstream
nt
atggcggccgccggggctgcggctacacacctagaggtggcccggggcaagcgcgccgcc
ctcttcttcgctgcggtggccatcgtgctggggctaccgctctggtggaagaccacggag
acctaccgggcctcgttgccttactcccagatcagtggcctgaatgcccttcagctccgc
ctcatggtgcctgtcactgtcgtgtttacgcgggagtcagtgcccctggacgaccaggag
aagctgcccttcaccgttgtgcatgaaagagagattcctctgaaatacaaaatgaaaatc
aaatgccgtttccagaaggcctatcggagggctttggaccatgaggaggaggccctgtca
tcgggcagtgtgcaagaggcagaagccatgttagatgagcctcaggaacaagcggagggc
tccctgactgtgtacgtgatatctgaacactcctcacttcttccccaggacatgatgagc
tacattgggcccaagaggacagcagtggtgcgggggataatgcaccgggaggcctttaac
atcattggccgccgcatagtccaggtggcccaggccatgtctttgactgaggatgtgctt
gctgctgctctggctgaccaccttccagaggacaagtggagcgctgagaagaggcggcct
ctcaagtccagcttgggctatgagatcaccttcagtttactcaacccagaccccaagtcc
catgatgtctactgggacattgagggggctgtccggcgctatgtgcaacctttcctgaat
gccctcggtgccgctggcaacttctctgtggactctcagattctttactatgcaatgttg
ggggtgaatccccgctttgactcagcttcctccagctactatttggacatgcacagcctc
ccccatgtcatcaacccagtggagtcccggctgggatccagtgctgcctccttgtaccct
gtgctcaactttctactctacgtgcctgagcttgcacactcaccgctgtacattcaggac
aaggatggcgctccagtggccaccaatgccttccatagtccccgctggggtggcattatg
gtatataatgttgactccaaaacctataatgcctcagtgctgccagtgagagtcgaggtg
gacatggtgcgagtgatggaggtgttcctggcacagttgcggttgctctttgggattgct
cagccccagctgcctccaaaatgcctgctttcagggcctacgagtgaagggctaatgacc
tgggagctagaccggctgctctgggctcggtcagtggagaacctggccacagccaccacc
acccttacctccctggcgcagcttctgggcaagatcagcaacattgtcattaaggacgac
gtggcatctgaggtgtacaaggctgtagctgccgtccagaagtcggcagaagagttggcg
tctgggcacctggcatctgcctttgtcgccagccaggaagctgtgacatcctctgagctt
gccttctttgacccgtcactcctccacctcctttatttccctgatgaccagaagtttgcc
atctacatcccactcttcctgcctatggctgtgcccatcctcctgtccctggtcaagatc
ttcctggagacccgcaagtcctggagaaagcctgagaagacagactga
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