Homo sapiens (human): 5279
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Entry
5279 CDS
T01001
Gene name
PIGC, GPI2, GPIBD16, MRT62
Definition
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class C
KO
K03859
phosphatidylinositol N-acetylglucosaminyltransferase subunit C
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
N00753
PIGV deficiency in GPI-anchor biosynthesis
N00754
PIGM deficiency in GPI-anchor biosynthesis
N00755
PIGW deficiency in GPI-anchor biosynthesis
N00756
PIGL deficiency in GPI-anchor biosynthesis
Disease
H00768
Autosomal recessive mental retardation
H01489
Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
5279 (PIGC)
BRITE hierarchy
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
GPI2
Motif
Other DBs
NCBI-GeneID:
5279
NCBI-ProteinID:
NP_002633
OMIM:
601730
HGNC:
8960
Ensembl:
ENSG00000135845
Vega:
OTTHUMG00000034751
Pharos:
Q92535
(Tbio)
UniProt:
Q92535
LinkDB
All DBs
Position
1q24.3
AA seq
297 aa
AA seq
DB search
MYAQPVTNTKEVKWQKVLYERQPFPDNYVDRRFLEELRKNIHARKYQYWAVVFESSVVIQ
QLCSVCVFVVIWWYMDEGLLAPHWLLGTGLASSLIGYVLFDLIDGGEGRKKSGQTRWADL
KSALVFITFTYGFSPVLKTLTESVSTDTIYAMSVFMLLGHLIFFDYGANAAIVSSTLSLN
MAIFASVCLASRLPRSLHAFIMVTFAIQIFALWPMLQKKLKACTPRSYVGVTLLFAFSAV
GGLLSISAVGAVLFALLLMSISCLCPFYLIRLQLFKENIHGPWDEAEIKEDLSRFLS
NT seq
894 nt
NT seq
+upstream
nt +downstream
nt
atgtatgctcaacctgtgactaacaccaaggaggtcaagtggcagaaggtcttgtatgag
cgacagccctttcctgataactatgtggaccggcgattcctggaagagctccggaaaaac
atccatgctcggaaataccaatattgggctgtggtatttgagtccagtgtggtgatccag
cagctgtgcagtgtttgtgtttttgtggttatctggtggtatatggatgagggtcttctg
gccccccattggcttttagggactggtctggcttcttcactgattgggtatgttttgttt
gatctcattgatggaggtgaagggcggaagaagagtgggcagacccggtgggctgacctg
aagagtgccctagtcttcattactttcacttatgggttttcaccagtgctgaagaccctt
acagagtctgtcagcactgacaccatctatgccatgtcagtcttcatgctgttaggccat
ctcatcttttttgactatggtgccaatgctgccattgtatccagcacactatccttgaac
atggccatctttgcttctgtatgcttggcatcacgtcttccccggtccctgcatgccttc
atcatggtgacatttgccattcagatttttgccctgtggcccatgttgcagaagaaacta
aaggcatgtactccccggagctatgtgggggtcacactgctttttgcattttcagccgtg
ggaggcctactgtccattagtgctgtgggagccgtactctttgcccttctgctgatgtct
atctcatgtctgtgtccattctacctcattcgcttgcagctttttaaagaaaacattcat
gggccttgggatgaagctgaaatcaaggaagacttgtccaggttcctcagttaa
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