KEGG   Homo sapiens (human): 94005
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)
SSDB
Motif
Pfam: PIG-S
Other DBs
NCBI-GeneID: 94005
NCBI-ProteinID: NP_149975
OMIM: 610271
HGNC: 14937
Ensembl: ENSG00000087111
UniProt: Q96S52 Q8NBL9 Q96IR5
Structure
Position
17:complement(28553387..28571524)
AA seq 555 aa
MAAAGAAATHLEVARGKRAALFFAAVAIVLGLPLWWKTTETYRASLPYSQISGLNALQLR
LMVPVTVVFTRESVPLDDQEKLPFTVVHEREIPLKYKMKIKCRFQKAYRRALDHEEEALS
SGSVQEAEAMLDEPQEQAEGSLTVYVISEHSSLLPQDMMSYIGPKRTAVVRGIMHREAFN
IIGRRIVQVAQAMSLTEDVLAAALADHLPEDKWSAEKRRPLKSSLGYEITFSLLNPDPKS
HDVYWDIEGAVRRYVQPFLNALGAAGNFSVDSQILYYAMLGVNPRFDSASSSYYLDMHSL
PHVINPVESRLGSSAASLYPVLNFLLYVPELAHSPLYIQDKDGAPVATNAFHSPRWGGIM
VYNVDSKTYNASVLPVRVEVDMVRVMEVFLAQLRLLFGIAQPQLPPKCLLSGPTSEGLMT
WELDRLLWARSVENLATATTTLTSLAQLLGKISNIVIKDDVASEVYKAVAAVQKSAEELA
SGHLASAFVASQEAVTSSELAFFDPSLLHLLYFPDDQKFAIYIPLFLPMAVPILLSLVKI
FLETRKSWRKPEKTD
NT seq 1668 nt   +upstreamnt  +downstreamnt
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (16)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (5)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (31)   
   RefSeq(nuc) (1)   
   GenBank (15)   
   EMBL (15)   
3D Structure (4)   
   PDB (4)   
Protein domain (1)   
   Pfam (1)   
All databases (59)   

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