Homo sapiens (human): 23556
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Entry
23556 CDS
T01001
Symbol
PIGN, GPI-ETI, MCAHS, MCAHS1, MCD4, MDC4, PIG-N
Name
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class N
KO
K05285
GPI ethanolamine phosphate transferase 1 [EC:2.7.-.-]
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
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
23556 (PIGN)
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SSDB
Ortholog
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Gene cluster
GFIT
Motif
Pfam:
PigN
Phosphodiest
Sulfatase
Motif
Other DBs
NCBI-GeneID:
23556
NCBI-ProteinID:
NP_036459
OMIM:
606097
HGNC:
8967
Ensembl:
ENSG00000197563
UniProt:
O95427
LinkDB
All DBs
Position
18:complement(62017615..62187056)
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AA seq
931 aa
AA seq
DB search
MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALY
ELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENP
VEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFD
NVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKE
IVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQ
FDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESM
FTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKP
SHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYP
LSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSL
LLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLST
VLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMST
YLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLY
LDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMS
MTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM
NT seq
2796 nt
NT seq
+upstream
nt +downstream
nt
atgctgctgttctttactttgggattgcttatacattttgtgttcttcgcctccatcttt
gacatttattttacatctcctttggttcatggaatgactcctcagtttacaccattgcct
cctccagcgagaagattagtgttgtttgttgctgatggccttcgagcagatgcactttac
gaattagatgaaaatggaaactctagagcaccgtttattaggaatatcataatgcatgaa
ggcagctggggcatatctcatacacgtgtgccaacagaatctcggccaggtcatgtagct
ctgatagctgggttttatgaagatgtcagtgcagttgccaaaggatggaaggaaaatcct
gtagagtttgattctctttttaatgaaagtaaatacacatggagctggggaagcccagat
atcctgcctatgtttgccaaaggtgctagtggagaccacgtttatacatatagttatgat
gctaaaagagaggattttggtgctcaagatgcaacaaaactggatacgtgggtttttgat
aatgttaaggacttctttcatcatgccagaaacaaccagtctttgttttctaaaataaat
gaagagaaaatagtttttttcttacatttattaggaatagatacaaacggacatgctcat
cgaccatcctcgagagactacaagcacaatattaaaaaagttgatgatggagttaaagaa
atcgtgtctatgtttaaccacttctatggaaatgatgggaaaacaacatttatctttacc
tctgaccatggaatgacagactggggttcccatggggctggtcatccttcagagacttta
actcctttagtcacttggggagctggaatcaagtatccccaaagagtatcagctcagcaa
tttgatgatgcatttttgaaagagtggagattggagaattggaagaggctagatgtcaat
caggctgatattgcaccattgatgacttcccttattggagttccctttcctcttaactca
gtgggaatccttcctgtggattatcttaacaacactgatctcttcaaagcagagagcatg
tttacaaatgcagtacagattcttgaacagttcaaggtgaaaatgactcagaagaaagaa
gttactttaccatttttgtttacaccatttaaactgctttctgattccaaacagttcaac
attttaagaaaagcaagatcttatataaaacacagaaagtttgatgaagtggtctccctt
tgcaaggagctaattcatcttgcattgaaaggattgtcctattatcacacatatgacaga
ttctttttgggcgtcaatgttgttattggttttgtgggatggatatcttatgcctctttg
ttgatcatcaagtctcattccaaccttataaaaggtgttagtaaagaagtgaagaaacca
agccatctcctgccttgtagttttgtagctattggcattttagtagcattttttctgctg
attcaagcctgtccctggacatattatgtatatggtttgttgccactgccaatatggtat
gcggttctaagagaatttcaagttattcaggaccttgttgtatcagtgttgacctatcct
ctgagccattttgttgggtacctgttagcctttaccctgggaattgaagtattagttctc
agttttttctaccgctatatgcttaccgctggacttactgcctttgcagcttggccattt
ctcactcggctgtggactcgagcaaagatgacctcactgagttggactttcttctctttg
ctcctggcagtgttcccactgatgccggttgtaggtcgaaagccagacatctctctagtg
atgggtgcaggcttgctggttcttctgttatccctgtgtgttgtaacatctctcatgaaa
agaaaagatagctttataaaggaagagctattggtacatctgttacaggtgctgagcaca
gtgctctccatgtatgttgtgtatagcactcagagtagtctactcaggaagcaaggactg
cctctcatgaatcaaattattagctgggcaacattagcctcttccttggttgtgccacta
ctgagttctccagttctctttcagcgattgttcagcatacttctttcattgatgtcaacc
tacctacttctaagcacagggtatgaagctctctttccactagtgttgtcttgtttgatg
tttgtctggataaacatagaacaagaaactctacaacaatctggtgtttgctgtaaacaa
aagctcaccagtatccagttctcttataatactgatataactcagtttcgacagctatat
ctggatgacatccgtagggcctttttccttgttttcttcttagtgacagcattttttgga
actggaaatatagcttctattaacagctttgatcttgcctctgtctattgctttctgact
gtgttcagtccttttatgatgggagccctgatgatgtggaagattttaatcccctttgtt
cttgttatgtgtgcttttgaagcagttcagttgactactcagttatcgtcaaaaagcctt
tttctcattgttctcgtcatatcagacattatggctttgcattttttcttcttggtcaag
gattatggcagctggcttgatattgggacaagcatcagccactatgtgattgtcatgtcc
atgaccatctttttggtgttcctcaatggcctggcccagctgctcacaacgaagaaactc
agactatgtggcaaacccaaaagtcacttcatgtga
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