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Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit P

Gene

PIGP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.2 Publications

Catalytic activityi

UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

GO - Molecular functioni

GO - Biological processi

  • GPI anchor biosynthetic process Source: UniProtKB
  • preassembly of GPI anchor in ER membrane Source: Reactome

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

BRENDAi2.4.1.198 2681
ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
UniPathwayi
UPA00196

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (EC:2.4.1.198)
Alternative name(s):
Down syndrome critical region protein 5
Down syndrome critical region protein C
Phosphatidylinositol-glycan biosynthesis class P protein
Short name:
PIG-P
Gene namesi
Name:PIGP
Synonyms:DCRC, DSCR5, DSCRC
ORF Names:NPD010
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000185808.13
HGNCiHGNC:3046 PIGP
MIMi605938 gene
neXtProtiNX_P57054

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Transmembranei80 – 100HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 55 (EIEE55)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE55 is an autosomal recessive condition.
See also OMIM:617599
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07929125M → T in EIEE55; reduced GPI-anchor biosynthetic process; may affect expression of isoform A. 1 PublicationCorresponds to variant dbSNP:rs768633670EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi51227
MalaCardsiPIGP
MIMi617599 phenotype
OpenTargetsiENSG00000185808
PharmGKBiPA27498

Polymorphism and mutation databases

BioMutaiPIGP
DMDMi425906062

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001917831 – 158Phosphatidylinositol N-acetylglucosaminyltransferase subunit PAdd BLAST158

Proteomic databases

EPDiP57054
PaxDbiP57054
PeptideAtlasiP57054
PRIDEiP57054
ProteomicsDBi56970
56971 [P57054-2]
56972 [P57054-3]
TopDownProteomicsiP57054-2 [P57054-2]
P57054-3 [P57054-3]

PTM databases

iPTMnetiP57054
PhosphoSitePlusiP57054

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000185808 Expressed in 235 organ(s), highest expression level in caput epididymis
CleanExiHS_PIGP
ExpressionAtlasiP57054 baseline and differential
GenevisibleiP57054 HS

Organism-specific databases

HPAiHPA026921

Interactioni

Subunit structurei

Associates with PIGA, PIGC, PIGH, PIGQ and DPM2. The latter is not essential for activity.

Protein-protein interaction databases

BioGridi119391, 6 interactors
IntActiP57054, 6 interactors
STRINGi9606.ENSP00000420037

Structurei

3D structure databases

ProteinModelPortaliP57054
SMRiP57054
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGP family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2257 Eukaryota
ENOG41121KH LUCA
GeneTreeiENSGT00390000013771
HOVERGENiHBG000430
InParanoidiP57054
KOiK03861
OMAiSEVNRMF
PhylomeDBiP57054
TreeFamiTF323799

Family and domain databases

InterProiView protein in InterPro
IPR013717 PIG-P
IPR016542 PIG-P_GPI19
PfamiView protein in Pfam
PF08510 PIG-P, 1 hit
PIRSFiPIRSF008765 PIG-P_GPI19, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform B (identifier: P57054-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVPRSTSLTL IVFLFHRLSK APGKMVENSP SPLPERAIYG FVLFLSSQFG
60 70 80 90 100
FILYLVWAFI PESWLNSLGL TYWPQKYWAV ALPVYLLIAI VIGYVLLFGI
110 120 130 140 150
NMMSTSPLDS IHTITDNYAK NQQQKKYQEE AIPALRDISI SEVNQMFFLA

AKELYTKN
Length:158
Mass (Da):18,089
Last modified:March 28, 2018 - v4
Checksum:i9309CEAC1DD777CF
GO
Isoform A (identifier: P57054-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Show »
Length:134
Mass (Da):15,408
Checksum:i47A2122FA663EB64
GO
Isoform C (identifier: P57054-3) [UniParc]FASTAAdd to basket
Also known as: DCRC-S

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
     51-52: FI → MV

Show »
Length:108
Mass (Da):12,510
Checksum:iCF1E65158429EE48
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JKT1C9JKT1_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGP
25Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti3P → S in BAA96872 (PubMed:10814524).Curated1
Sequence conflicti90I → V in BAA96873 (PubMed:10814524).Curated1
Sequence conflicti90I → V in AAF32289 (PubMed:10907851).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0615219T → A. Corresponds to variant dbSNP:rs2507733Ensembl.1
Natural variantiVAR_07929125M → T in EIEE55; reduced GPI-anchor biosynthetic process; may affect expression of isoform A. 1 PublicationCorresponds to variant dbSNP:rs768633670EnsemblClinVar.1
Natural variantiVAR_050538118Y → C. Corresponds to variant dbSNP:rs16994704Ensembl.1
Natural variantiVAR_050539136R → S. Corresponds to variant dbSNP:rs2276231Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0042031 – 50Missing in isoform C. 3 PublicationsAdd BLAST50
Alternative sequenceiVSP_0042021 – 24Missing in isoform A. 5 PublicationsAdd BLAST24
Alternative sequenceiVSP_00420451 – 52FI → MV in isoform C. 3 Publications2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037162 mRNA Translation: BAA96871.1
AB037163 mRNA Translation: BAA96872.1
AB037164 mRNA Translation: BAA96873.1
AB035742 mRNA Translation: BAA95633.1
AB035743 mRNA Translation: BAA95634.1
AB035744 mRNA Translation: BAA95635.1
AB035745 mRNA Translation: BAA95636.1
AF216305 mRNA Translation: AAF32289.1
AB039659 mRNA Translation: BAB12395.1
AF237812 mRNA Translation: AAG09757.1
BT007053 mRNA Translation: AAP35702.1
AK314457 mRNA Translation: BAG37065.1
AK316609 mRNA Translation: BAG38196.1
AB451328 mRNA Translation: BAG70142.1
AB451472 mRNA Translation: BAG70286.1
AP000704 Genomic DNA No translation available.
AP001429 Genomic DNA No translation available.
AP001431 Genomic DNA No translation available.
AP001727 Genomic DNA Translation: BAA95512.1
KC877872 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09724.1
CH471079 Genomic DNA Translation: EAX09725.1
CH471079 Genomic DNA Translation: EAX09727.1
CH471079 Genomic DNA Translation: EAX09726.1
CH471079 Genomic DNA Translation: EAX09728.1
BC005180 mRNA Translation: AAH05180.1
BC011007 mRNA Translation: AAH11007.1
CCDSiCCDS13649.1 [P57054-1]
CCDS13650.1 [P57054-2]
CCDS82670.1 [P57054-3]
PIRiJC7301
JC7302
RefSeqiNP_001307409.1, NM_001320480.1 [P57054-2]
NP_057514.2, NM_016430.3 [P57054-3]
NP_710148.1, NM_153681.2 [P57054-1]
NP_710149.1, NM_153682.2 [P57054-2]
XP_005261047.1, XM_005260990.4 [P57054-2]
XP_011527898.1, XM_011529596.2 [P57054-2]
XP_016883853.1, XM_017028364.1 [P57054-2]
XP_016883854.1, XM_017028365.1 [P57054-3]
UniGeneiHs.656565
Hs.716087

Genome annotation databases

EnsembliENST00000360525; ENSP00000353719; ENSG00000185808 [P57054-2]
ENST00000399098; ENSP00000382049; ENSG00000185808 [P57054-3]
ENST00000399102; ENSP00000382053; ENSG00000185808 [P57054-2]
ENST00000399103; ENSP00000382054; ENSG00000185808 [P57054-2]
ENST00000464265; ENSP00000420037; ENSG00000185808 [P57054-1]
GeneIDi51227
KEGGihsa:51227
UCSCiuc002yvw.2 human [P57054-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPIGP_HUMAN
AccessioniPrimary (citable) accession number: P57054
Secondary accession number(s): A0A0C4DH71
, B2RB18, B2RE99, B5BU92, D3DSG7, J3KR75, Q53Y28, Q96KI1, Q9NZA6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: March 28, 2018
Last modified: September 12, 2018
This is version 146 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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