KEGG   Homo sapiens (human): 5277Help
Entry
5277              CDS       T01001                                 

Gene name
PIGA, GPI3, MCAHS2, PIG-A, PNH1
Definition
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class A
  KO
K03857  phosphatidylinositol N-acetylglucosaminyltransferase subunit A [EC:2.4.1.198]
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
N00757  PIGA deficiency in GPI-anchor biosynthesis
Disease
H01053  Paroxysmal nocturnal hemoglobinuria
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
    5277 (PIGA)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    5277 (PIGA)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.198  phosphatidylinositol N-acetylglucosaminyltransferase
     5277 (PIGA)
Glycosyltransferases [BR:hsa01003]
 GPI-anchor biosynthesis
  Core oligosaccharide
   5277 (PIGA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PIGA Glyco_transf_4 Glycos_transf_1 Glyco_trans_1_4 Glyco_trans_4_4 Glyco_trans_1_2 Glyco_transf_5
Motif
Other DBs
NCBI-GeneID: 5277
NCBI-ProteinID: NP_002632
OMIM: 311770
HGNC: 8957
Ensembl: ENSG00000165195
Vega: OTTHUMG00000021174
Pharos: P37287(Tbio)
UniProt: P37287 A0A2K4ZA02
LinkDB All DBs
Position
Xp22.2
AA seq 484 aa AA seqDB search
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCL
IERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRE
RVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNH
IICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLE
KAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR
NT seq 1455 nt NT seq  +upstreamnt  +downstreamnt
atggcctgtagaggaggagctgggaatggccaccgtgcctcagctacactctctcgggtt
agccctggaagtctttacacatgtagaacccgtacccataatatatgcatggtatctgac
tttttctacccaaatatgggaggcgtggaaagccacatttaccagctctctcagtgcctg
attgaaagagggcataaggttataattgtcacccatgcttatggaaatcgaaaaggcatc
cgttacctcaccagtggcctcaaagtctattacttgcctctgaaagtcatgtacaaccag
tctacagccacgaccctctttcacagtctgccattgctcaggtacatatttgttcgggag
agagtcacgataatccattcacatagttctttttctgctatggcccatgatgctctcttc
cacgccaagacaatggggcttcagacagtcttcacggaccattccctttttggatttgct
gatgtcagctcggtgcttacaaacaagcttctaaccgtgtctctttgtgatacaaaccac
atcatttgtgtgtcttatactagtaaggaaaatactgtactaagagcagcactgaatcct
gaaatagtgtccgtcattcctaatgctgtagatcctactgacttcactccagacccattt
agaaggcatgatagtataactattgttgttgtcagcagacttgtttacagaaaagggatc
gatttgcttagtggtataatacctgaactctgtcagaaatatccagatttaaatttcata
attggaggagagggaccaaagagaatcattttggaagaagttcgggaaagataccagctg
catgacagggtgcgtcttttgggagctttagaacacaaggatgttagaaatgtcttagtt
caaggacatatttttctgaatacctcccttactgaagcattctgcatggcgatcgtggaa
gcagccagttgtggtttacaggttgtaagtaccagagttggtggaattcctgaggtgctt
ccagaaaaccttattattttatgtgagccttcagtaaaatctttgtgtgaaggattggaa
aaggctattttccaactgaagtcagggacattgccagctccagaaaacatccataacata
gtaaagactttctacacctggaggaatgttgcagaaagaactgaaaaggtatatgaccgg
gtatcagtggaagctgtgttgccaatggacaaacgactggacagacttatttctcactgc
ggcccagtaacaggctacatctttgctttgttggcagttttcaacttcctcttcctcatt
ttcttgagatggatgactccagattctatcattgatgttgcaatagatgccactgggcca
cggggtgcctggactaataactattctcacagtaaaagagggggtgagaataatgagata
tctgaaaccaggtag

KEGG   Homo sapiens (human): 5279Help
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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    5279 (PIGC)
BRITE hierarchy
SSDB OrthologParalogGFIT
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 seqDB search
MYAQPVTNTKEVKWQKVLYERQPFPDNYVDRRFLEELRKNIHARKYQYWAVVFESSVVIQ
QLCSVCVFVVIWWYMDEGLLAPHWLLGTGLASSLIGYVLFDLIDGGEGRKKSGQTRWADL
KSALVFITFTYGFSPVLKTLTESVSTDTIYAMSVFMLLGHLIFFDYGANAAIVSSTLSLN
MAIFASVCLASRLPRSLHAFIMVTFAIQIFALWPMLQKKLKACTPRSYVGVTLLFAFSAV
GGLLSISAVGAVLFALLLMSISCLCPFYLIRLQLFKENIHGPWDEAEIKEDLSRFLS
NT seq 894 nt NT seq  +upstreamnt  +downstreamnt
atgtatgctcaacctgtgactaacaccaaggaggtcaagtggcagaaggtcttgtatgag
cgacagccctttcctgataactatgtggaccggcgattcctggaagagctccggaaaaac
atccatgctcggaaataccaatattgggctgtggtatttgagtccagtgtggtgatccag
cagctgtgcagtgtttgtgtttttgtggttatctggtggtatatggatgagggtcttctg
gccccccattggcttttagggactggtctggcttcttcactgattgggtatgttttgttt
gatctcattgatggaggtgaagggcggaagaagagtgggcagacccggtgggctgacctg
aagagtgccctagtcttcattactttcacttatgggttttcaccagtgctgaagaccctt
acagagtctgtcagcactgacaccatctatgccatgtcagtcttcatgctgttaggccat
ctcatcttttttgactatggtgccaatgctgccattgtatccagcacactatccttgaac
atggccatctttgcttctgtatgcttggcatcacgtcttccccggtccctgcatgccttc
atcatggtgacatttgccattcagatttttgccctgtggcccatgttgcagaagaaacta
aaggcatgtactccccggagctatgtgggggtcacactgctttttgcattttcagccgtg
ggaggcctactgtccattagtgctgtgggagccgtactctttgcccttctgctgatgtct
atctcatgtctgtgtccattctacctcattcgcttgcagctttttaaagaaaacattcat
gggccttgggatgaagctgaaatcaaggaagacttgtccaggttcctcagttaa

KEGG   Homo sapiens (human): 5283Help
Entry
5283              CDS       T01001                                 

Gene name
PIGH, GPI-H
Definition
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class H
  KO
K03858  phosphatidylinositol N-acetylglucosaminyltransferase subunit H
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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    5283 (PIGH)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PIG-H
Motif
Other DBs
NCBI-GeneID: 5283
NCBI-ProteinID: NP_004560
OMIM: 600154
HGNC: 8964
Ensembl: ENSG00000100564
Vega: OTTHUMG00000171806
Pharos: Q14442(Tbio)
UniProt: Q14442
LinkDB All DBs
Position
14q24.1
AA seq 188 aa AA seqDB search
MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCE
NSMILSAAIFITLLGLLGYLHFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVK
DIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQSAKPRLDCLIEVYRSCQEILAH
QKATSTSP
NT seq 567 nt NT seq  +upstreamnt  +downstreamnt
atggaggatgagcggagcttttcggatatctgcggcggccgcctggcgctgcagcgccgc
tactactccccgtcctgccgggaattctgcctcagctgccctcggctctcgctgcgttcg
ctcaccgctgtcacctgcacggtgtggctggcggcctacggactcttcaccctctgcgag
aacagcatgatcctctctgctgccatcttcatcaccctcttaggtctgcttggttatctc
cattttgtgaagattgatcaggagactctgttaatcattgattcccttggcattcagatg
acttcatcttatgcttcaggcaaagaaagcactaccttcatagaaatgggcaaggtcaag
gatattgtcatcaatgaggccatttacatgcagaaggtgatttactacctctgcatctta
ttgaaagatccagtggaaccacatgggatatcccaagtagtacccgtcttccagagtgcc
aagccccggctggactgcttgattgaagtatacaggagctgccaggagatcctggcacac
cagaaagccacatcaacaagcccatga

KEGG   Homo sapiens (human): 51227Help
Entry
51227             CDS       T01001                                 

Gene name
PIGP, DCRC, DCRC-S, DSCR5, DSRC, EIEE55, PIG-P
Definition
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class P
  KO
K03861  phosphatidylinositol N-acetylglucosaminyltransferase subunit P
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
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    51227 (PIGP)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PIG-P DPM2 Phage_holin_3_6 SieB
Motif
Other DBs
NCBI-GeneID: 51227
NCBI-ProteinID: NP_710148
OMIM: 605938
HGNC: 3046
Ensembl: ENSG00000185808
Vega: OTTHUMG00000086653
Pharos: P57054(Tbio)
UniProt: P57054
LinkDB All DBs
Position
21q22.13
AA seq 158 aa AA seqDB search
MVPRSTSLTLIVFLFHRLSKAPGKMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFI
PESWLNSLGLTYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAK
NQQQKKYQEEAIPALRDISISEVNQMFFLAAKELYTKN
NT seq 477 nt NT seq  +upstreamnt  +downstreamnt
atggtgccacggagcacatcgctgacgctgattgtgttccttttccacagattgtctaaa
gccccaggaaaaatggtggaaaattcaccgtcgccattgccagaaagagcgatttatggc
tttgttcttttcttaagctcccaatttggcttcatactttacctcgtgtgggcctttatt
cctgaatcttggctaaactctttaggtttaacctattggcctcaaaaatattgggcagtt
gcattacctgtctacctccttattgctatagtaattggctacgtgctcttgtttgggatt
aacatgatgagtacctctccactcgactccatccatacaatcacagataactatgcaaaa
aatcaacagcagaagaaataccaagaggaggccattccagccttaagagatatttctatt
agtgaagtaaaccaaatgttctttcttgcagccaaagaactttacaccaaaaactga

KEGG   Homo sapiens (human): 9091Help
Entry
9091              CDS       T01001                                 

Gene name
PIGQ, EIEE77, GPI1, c407A10.1
Definition
(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
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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    9091 (PIGQ)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Gpi1
Motif
Other DBs
NCBI-GeneID: 9091
NCBI-ProteinID: NP_683721
OMIM: 605754
HGNC: 14135
Ensembl: ENSG00000007541
Vega: OTTHUMG00000168047
Pharos: Q9BRB3(Tdark)
UniProt: Q9BRB3
LinkDB All DBs
Position
16p13.3
AA seq 760 aa AA seqDB search
MVLKAFFPTCCVSTDSGLLVGRWVPEQSSAVVLAVLHFPFIPIQVKQLLAQVRQASQVGV
AVLGTWCHCRQEPEESLGRFLESLGAVFPHEPWLRLCRERGGTFWSCEATHRQAPTAPGA
PGEDQVMLIFYDQRQVLLSQLHLPTVLPDRQAGATTASTGGLAAVFDTVARSEVLFRSDR
FDEGPVRLSHWQSEGVEASILAELARRASGPICLLLASLLSLVSAVSACRVFKLWPLSFL
GSKLSTCEQLRHRLEHLTLIFSTRKAENPAQLMRKANTVASVLLDVALGLMLLSWLHGRS
RIGHLADALVPVADHVAEELQHLLQWLMGAPAGLKMNRALDQVLGRFFLYHIHLWISYIH
LMSPFVEHILWHVGLSACLGLTVALSLLSDIIALLTFHIYCFYVYGARLYCLKIHGLSSL
WRLFRGKKWNVLRQRVDSCSYDLDQLFIGTLLFTILLFLLPTTALYYLVFTLLRLLVVAV
QGLIHLLVDLINSLPLYSLGLRLCRPYRLADKPTALQPRGAHLPPPQLWLPPQALLGRPV
PQAVPWGAHLPLEAERGQAGLRELLARLAPPHGHSQPSALPGWHQLSWRMSCALWTLLCA
PEHGRPCYHTLGLEVIGSEQMWGWPARLAALHHWHCLPWDPLPTCCGHHGGEHSNPRCPE
HCPMPTLCTQVQRVRPPQQPQVEGWSPWGLPSGSALAVGVEGPCQDEPPSPRHPLAPSAE
QHPASGGLKQSLTPVPSGPGPSLPEPHGVYLRMFPGEVAL
NT seq 2283 nt NT seq  +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

KEGG   Homo sapiens (human): 84992Help
Entry
84992             CDS       T01001                                 

Gene name
PIGY, HPMRS6, PIG-Y
Definition
(RefSeq) phosphatidylinositol glycan anchor biosynthesis class Y
  KO
K11001  phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
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
N00758  PIGY deficiency in GPI-anchor biosynthesis
Disease
H01488  Hyperphosphatasia with mental retardation syndrome
H01489  Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    84992 (PIGY)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PIG-Y FLILHELTA
Motif
Other DBs
NCBI-GeneID: 84992
NCBI-ProteinID: NP_001036081
OMIM: 610662
HGNC: 28213
Ensembl: ENSG00000255072
Vega: OTTHUMG00000166563
Pharos: Q3MUY2(Tdark)
UniProt: Q3MUY2
LinkDB All DBs
Position
4q22.1
AA seq 71 aa AA seqDB search
MFLSLPTLTVLIPLVSLAGLFYSASVEENFPQGCTSTASLCFYSLLLPITIPVYVFFHLW
TWMGIKLFRHN
NT seq 216 nt NT seq  +upstreamnt  +downstreamnt
atgtttctgtctcttcctacgttgactgttcttattccactggtttctttagcaggactg
ttctactcagcctctgtggaagaaaacttcccacagggctgcactagcacagccagcctt
tgcttttacagcctgctcttgcctattaccataccagtgtatgtattcttccacctttgg
acttggatgggtattaaactcttcaggcataattga

KEGG   Homo sapiens (human): 8818Help
Entry
8818              CDS       T01001                                 

Gene name
DPM2, CDG1U
Definition
(RefSeq) dolichyl-phosphate mannosyltransferase subunit 2, regulatory
  KO
K09658  dolichol phosphate-mannose biosynthesis regulatory protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa00510  N-Glycan biosynthesis
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00065  GPI-anchor biosynthesis, core oligosaccharide
Network
nt06015  N-Glycan biosynthesis
nt06018  GPI-anchor biosynthesis
  Element
N00667  N-Glycan precursor biosynthesis, Glc-6P to Man-P-Dol
N00669  DPM2 deficiency in N-glycan precursor biosynthesis
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
H00118  Congenital disorders of glycosylation type I
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00510 N-Glycan biosynthesis
    8818 (DPM2)
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    8818 (DPM2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DPM2 PIG-P
Motif
Other DBs
NCBI-GeneID: 8818
NCBI-ProteinID: NP_003854
OMIM: 603564
HGNC: 3006
Ensembl: ENSG00000136908
Vega: OTTHUMG00000020725
Pharos: O94777(Tdark)
UniProt: O94777
LinkDB All DBs
Position
9q34.11
AA seq 84 aa AA seqDB search
MATGTDQVVGLGLVAVSLIIFTYYTAWVILLPFIDSQHVIHKYFLPRAYAVAIPLAAGLL
LLLFVGLFISYVMLKTKRVTKKAQ
NT seq 255 nt NT seq  +upstreamnt  +downstreamnt
atggccacggggacagaccaggtggtgggactcggcctcgtcgccgttagcctgatcatc
ttcacctactacaccgcctgggtgattctcttgccattcatcgacagtcagcatgtcatc
cacaagtatttcctgccccgagcctatgctgtcgccatcccactggctgcaggcctcctg
ctgctcctgtttgtgggactgttcatctcctatgtgatgctgaagaccaagagagtgacc
aagaaggctcagtga

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