KEGG   Homo sapiens (human): 23556Help
Entry
23556             CDS       T01001                                 

Gene name
PIGN, MCAHS, MCAHS1, MCD4, MDC4, PIG-N
Definition
(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
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
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)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.-  Transferring phosphorus-containing groups
    2.7.-.-  
     23556 (PIGN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PigN Phosphodiest Sulfatase Metalloenzyme
Motif
Other DBs
NCBI-GeneID: 23556
NCBI-ProteinID: NP_036459
OMIM: 606097
HGNC: 8967
Ensembl: ENSG00000197563
Vega: OTTHUMG00000180098
Pharos: O95427(Tbio)
UniProt: O95427 A0A024R2C3
LinkDB All DBs
Position
18q21.33
AA seq 931 aa AA seqDB search
MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALY
ELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENP
VEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFD
NVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKE
IVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQ
FDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESM
FTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKP
SHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYP
LSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSL
LLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLST
VLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMST
YLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLY
LDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMS
MTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM
NT seq 2796 nt NT seq  +upstreamnt  +downstreamnt
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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