Homo sapiens (human): 54872
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Entry
54872 CDS
T01001
Symbol
PIGG, EMM, GPI7, LAS21, MRT53, NEDHSCA, PRO4405, RLGS1930
Name
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
KO
K05310
ethanolamine phosphate transferase 2 subunit G [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
H00768
Autosomal recessive intellectual developmental disorder
H01489
Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
54872 (PIGG)
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Gene cluster
GFIT
Motif
Pfam:
PIGO_PIGG
Phosphodiest
Metalloenzyme
Motif
Other DBs
NCBI-GeneID:
54872
NCBI-ProteinID:
NP_001120650
OMIM:
616918
HGNC:
25985
Ensembl:
ENSG00000174227
UniProt:
Q5H8A4
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All DBs
Position
4:499210..540200
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AA seq
983 aa
AA seq
DB search
MRLGSGTFATCCVAIEVLGIAVFLRGFFPAPVRSSARAEHGAEPPAPEPSAGASSNWTTL
PPPLFSKVVIVLIDALRDDFVFGSKGVKFMPYTTYLVEKGASHSFVAEAKPPTVTMPRIK
ALMTGSLPGFVDVIRNLNSPALLEDSVIRQAKAAGKRIVFYGDETWVKLFPKHFVEYDGT
TSFFVSDYTEVDNNVTRHLDKVLKRGDWDILILHYLGLDHIGHISGPNSPLIGQKLSEMD
SVLMKIHTSLQSKERETPLPNLLVLCGDHGMSETGSHGASSTEEVNTPLILISSAFERKP
GDIRHPKHVQQTDVAATLAIALGLPIPKDSVGSLLFPVVEGRPMREQLRFLHLNTVQLSK
LLQENVPSYEKDPGFEQFKMSERLHGNWIRLYLEEKHSEVLFNLGSKVLRQYLDALKTLS
LSLSAQVAQYDIYSMMVGTVVVLEVLTLLLLSVPQALRRKAELEVPLSSPGFSLLFYLVI
LVLSAVHVIVCTSAESSCYFCGLSWLAAGGVMVLASALLCVIVSVLTNVLVGGNTPRKNP
MHPSSRWSELDLLILLGTAGHVLSLGASSFVEEEHQTWYFLVNTLCLALSQETYRNYFLG
DDGEPPCGLCVEQGHDGATAAWQDGPGCDVLERDKGHGSPSTSEVLRGREKWMVLASPWL
ILACCRLLRSLNQTGVQWAHRPDLGHWLTSSDHKAELSVLAALSLLVVFVLVQRGCSPVS
KAALALGLLGVYCYRAAIGSVRFPWRPDSKDISKGIIEARFVYVFVLGILFTGTKDLLKS
QVIAADFKLKTVGLWEIYSGLVLLAALLFRPHNLPVLAFSLLIQTLMTKFIWKPLRHDAA
EITVMHYWFGQAFFYFQGNSNNIATVDISAGFVGLDTYVEIPAVLLTAFGTYAGPVLWAS
HLVHFLSSETRSGSALSHACFCYALICSIPVFTYIVLVTSLRYHLFIWSVFSPKLLYEGM
HLLITAAVCVFFTAMDQTRLTQS
NT seq
2952 nt
NT seq
+upstream
nt +downstream
nt
atgcggctgggctccgggactttcgctacctgttgcgtagcgatcgaggtgctagggatc
gcggtcttccttcggggattcttcccggctcccgttcgttcctctgccagagcggaacac
ggagcggagcccccagcgcccgaaccctcggctggagccagttctaactggaccacgctg
ccaccacctctcttcagtaaagttgttattgttctgatagatgccttgagagatgatttt
gtgtttgggtcaaagggtgtgaaatttatgccctacacaacttaccttgtggaaaaagga
gcatctcacagttttgtggctgaagcaaagccacctacagttactatgcctcgaatcaag
gcattgatgacggggagccttcctggctttgtcgacgtcatcaggaacctcaattctcct
gcactgctggaagacagtgtgataagacaagcaaaagcagctggaaaaagaatagtcttt
tatggagatgaaacctgggttaaattattcccaaagcattttgtggaatatgatggaaca
acctcatttttcgtgtcagattacacagaggtggataataatgtcacgaggcatttggat
aaagtattaaaaagaggagattgggacatattaatcctccactacctggggctggaccac
attggccacatttcagggcccaacagccccctgattgggcagaagctgagcgagatggac
agcgtgctgatgaagatccacacctcactgcagtcgaaggagagagagacgcctttaccc
aatttgctggttctttgtggtgaccatggcatgtctgaaacaggaagtcacggggcctcc
tccaccgaggaggtgaatacacctctgattttaatcagttctgcgtttgaaaggaaaccc
ggtgatatccgacatccaaagcacgtccaacagacggatgtggctgcgacactggcgata
gcacttggcttaccgattccaaaagacagtgtagggagcctcctattcccagttgtggaa
ggaagaccaatgagagagcagttgagatttttacatttgaatacagtgcagcttagtaaa
ctgttgcaagagaatgtgccgtcatatgaaaaagatcctgggtttgagcagtttaaaatg
tcagaaagattgcatgggaactggatcagactgtacttggaggaaaagcattcagaagtc
ctattcaacctgggctccaaggttctcaggcagtacctggatgctctgaagacgctgagc
ttgtccctgagtgcacaagtggcccagtacgacatctattcgatgatggtggggactgtc
gtggttttggaggttctcaccctgctcctgctcagcgtcccacaggcactgcgcagaaag
gctgagctggaagtcccactgtcatctcctgggttttctctgctcttttatttggtgatc
ctggttctttcggccgttcacgtcattgtgtgcacctcagctgaaagttcgtgctacttc
tgtggcctctcgtggctggcggcaggtggggtgatggtgctggcctcggcgctgctgtgt
gtgattgtgtctgttctgaccaacgtgctcgtgggtggaaacaccccaaggaagaacccc
atgcatcccagctcaaggtggtcagagctagaccttcttattctgttggggacggcgggc
cacgtcttgagcctgggcgccagcagcttcgtggaggaggagcaccagacctggtacttc
cttgtgaacaccctgtgtctagctctgagccaagaaacctacagaaactactttctggga
gatgacggtgagcctccgtgtggcctctgtgtggaacaagggcatgacggggccacagca
gcgtggcaggacgggcctggctgtgatgtcctggagcgagacaaaggccacggaagcccc
tctacctccgaagtgctcagaggccgcgagaagtggatggtgctggccagtccgtggcta
atactggcctgctgccggctgctgcgctccctaaaccagacaggtgtgcagtgggctcac
cggcctgacctcggccactggctcaccagctctgaccacaaagccgagctctctgtcctg
gctgccctctccctcctcgtagtttttgtgctggtgcagagggggtgctcccctgtgtcc
aaggctgccctggcgctggggctgctgggcgtctactgctaccgggcggccatcgggagt
gtccggttcccgtggcggccggacagcaaggacatttccaagggtattattgaagctcgt
tttgtttatgtctttgtccttggcattctgttcacgggcaccaaagacttacttaaatct
caagtcattgctgcagacttcaaactcaagactgtaggtttatgggagatatatagtgga
ttagttcttctggcagccttgctctttagaccacataatcttccggtcttagcatttagc
ctcttgattcagactctaatgactaaattcatctggaagcccctgagacacgatgcagct
gagattactgtgatgcattattggtttggtcaagcattcttctattttcagggcaactcc
aacaacattgccaccgtggacatctccgcaggcttcgtgggcttagacacctacgtggaa
atcccagccgtgctcctgacagcgtttgggacgtacgcagggcctgtgctgtgggccagc
cacttagtgcacttcctgagctcagaaacacgcagtggttcagcactgagtcatgcttgc
ttctgctacgcactgatttgttctattccagttttcacgtacatcgttttggtgacatct
ctgcgttatcatttatttatatggagtgtattttctccaaaacttctctacgagggaatg
cacctgctcattacagctgctgtctgtgtattcttcacggcaatggatcaaaccagactc
acacagtcttag
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