KEGG   Homo sapiens (human): 55650Help
Entry
55650             CDS       T01001                                 

Gene name
PIGV, GPI-MT-II, HPMRS1, PIG-V
Definition
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class V
  KO
K07542  phosphatidylinositol glycan, class V [EC:2.4.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00065  GPI-anchor biosynthesis, core oligosaccharide
Disease
H01488  Hyperphosphatasia with mental retardation syndrome (HPMPS)
H01489  Inherited glycosylphosphatidylinositol (GPI) deficiencies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
    55650 (PIGV)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.-  
     55650 (PIGV)
Glycosyltransferases [BR:hsa01003]
 GPI-anchor biosynthesis
  Core oligosaccharide
   55650 (PIGV)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Mannosyl_trans2
Motif
Other DBs
NCBI-GeneID: 55650
NCBI-ProteinID: NP_001189483
OMIM: 610274
HGNC: 26031
Ensembl: ENSG00000060642
Vega: OTTHUMG00000004005
Pharos: Q9NUD9(Tbio)
UniProt: Q9NUD9
LinkDB All DBs
Position
1p36.11
AA seq 493 aa AA seqDB search
MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLL
GGLSHWDAEHFLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVA
SLNFLFFMLAAVALHDLGCLVLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSA
MGQLERGRVWTSVLLFAFATGVRSNGLVSVGFLMHSQCQGFFSSLTMLNPLRQLFKLMAS
LFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLAVDKGYRIAEGNEPPWCFWDV
PLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHPWLCLTLGLQR
SKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHL
LQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWL
LGLLLHCNFLPWT
NT seq 1482 nt NT seq  +upstreamnt  +downstreamnt
atgtggccccaggacccatcccggaaggaggtgctgaggtttgcagtcagctgccgtatc
ctgactctgatgctgcaggccctcttcaatgccatcatcccagatcaccatgcagaagcc
ttctctcctcctcgcctggccccctcaggctttgtggaccaactcgtggaaggtcttctg
ggcggcctgtctcactgggatgctgaacacttcttgttcattgctgagcatggctacctg
tatgagcacaactttgccttctttcctggtttccccttggccctgctggtggggactgaa
ctgttgagacccttacgggggttactgagtctacgcagttgcctgctgatttcggtagca
tcactcaatttcttgttcttcatgttggctgcagttgcacttcatgacctgggttgtctg
gttttgcactgtccccaccagtccttttatgcagctctgcttttctgtctcagccctgcc
aatgtcttcctggcagctggttactcagaagctttgtttgccctcctgacattcagtgcc
atggggcagctggagaggggccgagtctggactagtgtactcctctttgcctttgccact
ggggtacgctccaacgggctggtcagtgttggcttcctcatgcattctcaatgccaaggc
tttttctcttctctaacgatgctgaatcctctgagacagctctttaagctgatggcctct
ctgtttctgtcggtgttcacacttggccttccctttgccctctttcagtattatgcctac
acccaattctgtctgccaggctcagcccgccccattcctgagcctttggtacagttagct
gtagacaagggctaccggattgcagagggaaatgaaccgccttggtgcttctgggatgtt
ccactaatatacagctatatccaggatgtctactggaatgttggctttttgaaatactat
gagctcaagcaggtgcccaattttctactggctgcaccagtggctatactggttgcctgg
gcaacttggacatacgtgaccactcacccttggctctgccttacacttgggctgcaaagg
agcaagaacaataagaccctagagaagcccgatcttggattcctcagtcctcaggtgttt
gtgtacgtggtccacgctgcagtgctgctgctgtttggaggtctgtgcatgcatgttcag
gttctcaccaggtttttgggctcctccactcctattatgtactggtttccagctcacttg
cttcaggatcaagagccgctgttgagatccttaaagactgtgccttggaagcctcttgca
gaggactccccaccaggacaaaaggtccccagaaatcctatcatgggacttttgtatcac
tggaaaacctgttctccagtcacacgatacattctaggctacttcctgacttactggctc
ctgggactactcctacattgcaacttcctgccttggacatga

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