KEGG   Homo sapiens (human): 9091
Entry
9091              CDS       T01001                                 
Symbol
PIGQ, DEE77, EIEE77, GPI1, GPIBD19, MCAHS4, c407A10.1
Name
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class Q
  KO
K03860  phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
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
H00606  Early infantile epileptic encephalopathy
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
    9091 (PIGQ)
SSDB
Motif
Pfam: Gpi1 DUF6050
Other DBs
NCBI-GeneID: 9091
NCBI-ProteinID: NP_683721
OMIM: 605754
HGNC: 14135
Ensembl: ENSG00000007541
UniProt: Q9BRB3
Position
16:569968..584109
AA seq 760 aa
MVLKAFFPTCCVSTDSGLLVGRWVPEQSSAVVLAVLHFPFIPIQVKQLLAQVRQASQVGV
AVLGTWCHCRQEPEESLGRFLESLGAVFPHEPWLRLCRERGGTFWSCEATHRQAPTAPGA
PGEDQVMLIFYDQRQVLLSQLHLPTVLPDRQAGATTASTGGLAAVFDTVARSEVLFRSDR
FDEGPVRLSHWQSEGVEASILAELARRASGPICLLLASLLSLVSAVSACRVFKLWPLSFL
GSKLSTCEQLRHRLEHLTLIFSTRKAENPAQLMRKANTVASVLLDVALGLMLLSWLHGRS
RIGHLADALVPVADHVAEELQHLLQWLMGAPAGLKMNRALDQVLGRFFLYHIHLWISYIH
LMSPFVEHILWHVGLSACLGLTVALSLLSDIIALLTFHIYCFYVYGARLYCLKIHGLSSL
WRLFRGKKWNVLRQRVDSCSYDLDQLFIGTLLFTILLFLLPTTALYYLVFTLLRLLVVAV
QGLIHLLVDLINSLPLYSLGLRLCRPYRLADKPTALQPRGAHLPPPQLWLPPQALLGRPV
PQAVPWGAHLPLEAERGQAGLRELLARLAPPHGHSQPSALPGWHQLSWRMSCALWTLLCA
PEHGRPCYHTLGLEVIGSEQMWGWPARLAALHHWHCLPWDPLPTCCGHHGGEHSNPRCPE
HCPMPTLCTQVQRVRPPQQPQVEGWSPWGLPSGSALAVGVEGPCQDEPPSPRHPLAPSAE
QHPASGGLKQSLTPVPSGPGPSLPEPHGVYLRMFPGEVAL
NT seq 2283 nt   +upstreamnt  +downstreamnt
atggtgctcaaggccttcttccccacgtgctgcgtctcgacggacagcgggctgctggtg
ggacggtgggtgccggagcagagcagcgccgtggtcctggcggtcctgcactttcccttc
atccccatccaggtcaagcagctcctggcccaggtgcggcaggccagccaggtgggcgtg
gccgtgctgggcacctggtgccactgccggcaggagcccgaggagagcctgggccgcttc
ctggagagcctgggtgctgtcttcccccatgagccctggctgcggctgtgccgggagaga
ggcggcacgttctggagctgcgaggccacccaccggcaagcgcccactgcccccggtgcc
cctggtgaggaccaggtcatgctcatcttctatgaccagcgccaggtgttgctgtcacag
ctacacctgcccaccgtcctgcccgaccgccaggctggagccaccactgccagcacgggg
ggcctggctgccgtcttcgacacggtagcacgcagtgaggtgctcttccgcagtgaccgc
tttgatgagggccccgtgcggctgagccactggcagtcggagggcgtggaggccagcatc
ctcgcggagctggccaggcgagcctcgggacccatttgcctgctgttggccagcctgctg
tcgctggtctcagctgtcagtgcctgccgagtgttcaagctctggcccctgtccttcctc
gggagcaaactctccacgtgcgaacagctccggcaccggctggagcacctcacgctaatc
ttcagtacacggaaggcggagaaccctgcccagctgatgaggaaggccaacacggtggcc
tctgtgctgctggacgtggccctgggcctcatgctgctgtcctggctccacgggagaagc
cgcatcgggcatctggccgacgccctcgttcctgtggctgaccacgtggccgaggagctc
cagcatctgctgcagtggctgatgggtgctcccgccgggctcaagatgaaccgtgcactg
gaccaggtgctgggccgcttcttcctctaccacatccacctgtggatcagctacatccac
ctcatgtcccccttcgtggagcacatcctttggcacgtgggcctctcggcctgcctgggc
ctgacggtggccctgtccctcctctcggacattatcgccctcctcaccttccacatctac
tgcttttacgtctatggagccaggctgtactgcctgaagatccatggcctgtcctcactg
tggcgtctgttccgggggaagaagtggaacgttctgcgccagcgcgtggactcctgttcc
tatgacctggaccagctgttcatcgggactctgctcttcaccatcctgctcttcctcctg
cctaccacagccctgtactacctggtgttcaccctgctccggctcctggtggtcgccgtg
cagggcctgatccatctgctcgtggacctcatcaactccctgccgctgtactcactgggt
cttcggctctgccggccctacaggctggcggataaacccactgccctacagccgcgtggt
gcacacctaccgcctccccagctgtggctgccaccccaagcactcctggggcgccctgtg
ccgcaagctgttccttggggagctcatctacccctggaggcagagaggggacaagcagga
ctgagggaactgctggctcgcctggcaccaccacacggccacagccagccatctgctctg
ccagggtggcaccagctcagctggcgcatgtcctgtgctttgtggacgctgctgtgtgct
cctgaacacggcaggccctgctatcacaccttgggcttggaggtcattgggagtgagcag
atgtgggggtggccagccaggctggccgcactccatcactggcactgcctgccttgggac
ccgcttcccacctgctgcggtcaccatggtggcgagcacagcaaccccaggtgtccagag
cactgccccatgcccaccctgtgtacccaggtccagagggtccgtccaccacagcagccc
caggtggagggctggtctccctgggggctccccagtggctctgccctggctgtgggggtg
gagggaccttgccaggatgaaccccccagtcccaggcaccctctagctccctcagccgaa
cagcaccctgcatctgggggattgaagcagtcgctgacccccgtccccagcgggcccggg
ccctcactccctgaaccacacggggtttatttgcggatgttccctggagaggtcgctttg
tga

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (2)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (5)   
   KEGG DISEASE (3)   
   OMIM (2)   
Chemical substance (1)   
   KEGG COMPOUND (1)   
Chemical reaction (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (90)   
   KEGG ORTHOLOGY (1)   
   RefGene (81)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (22)   
   RefSeq(nuc) (2)   
   GenBank (10)   
   EMBL (10)   
Protein domain (2)   
   Pfam (2)   
All databases (132)   

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