This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-Gl... See more...

Aliases for PIGP Gene

Aliases for PIGP Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class P 2 3 5
  • DCRC 2 3 4
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit P 3 4
  • Phosphatidylinositol-N-Acetylglucosaminyltranferase Subunit 2 3
  • Phosphatidylinositol-Glycan Biosynthesis Class P Protein 3 4
  • Down Syndrome Critical Region Protein 5 3 4
  • Down Syndrome Critical Region Protein C 3 4
  • Down Syndrome Critical Region Gene 5 2 3
  • Phosphatidylinositol Glycan, Class P 2 3
  • DSCR5 3 4
  • PIG-P 3 4
  • DSRC 2 3
  • DCRC-S 3
  • EIEE55 3
  • DEE55 3
  • DSCRC 4
  • PIGP 5

External Ids for PIGP Gene

Previous HGNC Symbols for PIGP Gene

  • DSCR5

Previous GeneCards Identifiers for PIGP Gene

  • GC21M037360
  • GC21M038435
  • GC21M023913

Summaries for PIGP Gene

Entrez Gene Summary for PIGP Gene

  • This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

GeneCards Summary for PIGP Gene

PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P) is a Protein Coding gene. Diseases associated with PIGP include Developmental And Epileptic Encephalopathy 55 and Early Infantile Epileptic Encephalopathy. Among its related pathways are Metabolism of proteins and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot Summary for PIGP Gene

  • Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

Gene Wiki entry for PIGP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGP Gene

Genomics for PIGP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIGP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGP

Top Transcription factor binding sites by QIAGEN in the PIGP gene promoter:
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • FOXJ2 (long isoform)
  • Nkx3-1
  • Pbx1a

Genomic Locations for PIGP Gene

Latest Assembly
chr21:37,062,846-37,073,170
(GRCh38/hg38)
Size:
10,325 bases
Orientation:
Minus strand

Previous Assembly
chr21:38,437,664-38,445,371
(GRCh37/hg19 by Entrez Gene)
Size:
7,708 bases
Orientation:
Minus strand

chr21:38,431,470-38,445,470
(GRCh37/hg19 by Ensembl)
Size:
14,001 bases
Orientation:
Minus strand

Genomic View for PIGP Gene

Genes around PIGP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGP Gene

Proteins for PIGP Gene

  • Protein details for PIGP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57054-PIGP_HUMAN
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit P
    Protein Accession:
    P57054
    Secondary Accessions:
    • A0A0C4DH71
    • B2RB18
    • B2RE99
    • B5BU92
    • D3DSG7
    • J3KR75
    • Q53Y28
    • Q96KI1
    • Q9NZA6

    Protein attributes for PIGP Gene

    Size:
    158 amino acids
    Molecular mass:
    18089 Da
    Quaternary structure:
    • Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815). Interacts directly with PIGA and PIGQ (PubMed:10944123).

    Alternative splice isoforms for PIGP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGP Gene

Post-translational modifications for PIGP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PIGP Gene

Domains & Families for PIGP Gene

Gene Families for PIGP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PIGP Gene

InterPro:
Blocks:
  • PIG-P
ProtoNet:

Suggested Antigen Peptide Sequences for PIGP Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-glycan biosynthesis class P protein (PIGP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P57054

UniProtKB/Swiss-Prot:

PIGP_HUMAN :
  • Belongs to the PIGP family.
Family:
  • Belongs to the PIGP family.
genes like me logo Genes that share domains with PIGP: view

Function for PIGP Gene

Molecular function for PIGP Gene

UniProtKB/Swiss-Prot Function:
Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

Phenotypes From GWAS Catalog for PIGP Gene

Gene Ontology (GO) - Molecular Function for PIGP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0017176 contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IDA 10944123
genes like me logo Genes that share ontologies with PIGP: view

Phenotypes for PIGP Gene

genes like me logo Genes that share phenotypes with PIGP: view

Human Phenotype Ontology for PIGP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for PIGP Gene

miRTarBase miRNAs that target PIGP

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGP

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PIGP Gene

Localization for PIGP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGP Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGP gene
Compartment Confidence
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PIGP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA 10944123
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGP: view

Pathways & Interactions for PIGP Gene

genes like me logo Genes that share pathways with PIGP: view

UniProtKB/Swiss-Prot P57054-PIGP_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IMP 28334793
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGP: view

No data available for SIGNOR curated interactions for PIGP Gene

Drugs & Compounds for PIGP Gene

(6) Drugs for PIGP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceramide NG Experimental Pharma 0
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
sphinganine Pharma 0

(510) Additional Compounds for PIGP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-Dehydro-D-sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-Amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
genes like me logo Genes that share compounds with PIGP: view

Transcripts for PIGP Gene

mRNA/cDNA for PIGP Gene

4 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGP

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PIGP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: -

Relevant External Links for PIGP Gene

GeneLoc Exon Structure for
PIGP

Expression for PIGP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIGP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGP

SOURCE GeneReport for Unigene cluster for PIGP Gene:

Hs.656565

mRNA Expression by UniProt/SwissProt for PIGP Gene:

P57054-PIGP_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PIGP Gene

  • Nervous system(4.6)
  • Kidney(4.3)
  • Blood(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with PIGP: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGP Gene

Orthologs for PIGP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIGP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PIGP 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 95 (a)
OneToMany
PIGP 30
  • 92.04 (n)
-- 31
  • 87 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PIGP 30 31
  • 89.06 (n)
OneToMany
-- 31
  • 87 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Pigp 30 17 31
  • 86.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pigp 30
  • 86.36 (n)
Oppossum
(Monodelphis domestica)
Mammalia PIGP 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PIGP 31
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PIGP 30
  • 73.33 (n)
Lizard
(Anolis carolinensis)
Reptilia PIGP 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pigp 30
  • 73.44 (n)
Str.10811 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33103 30
Zebrafish
(Danio rerio)
Actinopterygii pigp 30 31
  • 62.93 (n)
OneToOne
Species where no ortholog for PIGP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PIGP Gene

ENSEMBL:
Gene Tree for PIGP (if available)
TreeFam:
Gene Tree for PIGP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIGP: view image

Paralogs for PIGP Gene

genes like me logo Genes that share paralogs with PIGP: view

No data available for Paralogs for PIGP Gene

Variants for PIGP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGP Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs11553684 Benign: not provided 37,065,618(-) G/A
NM_153681.2(PIGP):c.441C>T (p.Phe147=)
SYNONYMOUS
rs16994704 Benign: not provided. - 37,065,706(-) T/Cp.Tyr118Cys
NM_153681.2(PIGP):c.353A>G (p.Tyr118Cys)
MISSENSE
rs201170767 Uncertain Significance: Early infantile epileptic encephalopathy 55 37,072,494(-) G/C
NM_016430.3(PIGP):c.-223C>G
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs73901831 Benign: not provided 37,065,660(-) T/G
NM_153681.2(PIGP):c.399A>C (p.Pro133=)
SYNONYMOUS
rs73901833 Benign: not provided 37,067,340(-) T/C
NM_153681.2(PIGP):c.268A>G (p.Ile90Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIGP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PIGP Gene

Variant ID Type Subtype PubMed ID
esv3575389 CNV gain 25503493
nsv1066107 CNV loss 25217958
nsv3510 CNV insertion 18451855

Variation tolerance for PIGP Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.07; 75.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGP Gene

Human Gene Mutation Database (HGMD)
PIGP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGP Gene

Disorders for PIGP Gene

MalaCards: The human disease database

(6) MalaCards diseases for PIGP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
developmental and epileptic encephalopathy 55
  • dee55
early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
down syndrome
  • trisomy 21
mucocele of salivary gland
  • mucous retention cyst of salivary gland
muscular dystrophy, congenital, with cataracts and intellectual disability
  • mdccaid
- elite association - COSMIC cancer census association via MalaCards
Search PIGP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGP_HUMAN
  • Epileptic encephalopathy, early infantile, 55 (EIEE55) [MIM:617599]: A 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. {ECO:0000269 PubMed:28334793}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PIGP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PIGP: view

No data available for Genatlas for PIGP Gene

Publications for PIGP Gene

  1. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. (PMID: 28334793) Johnstone DL … Campeau PM (Human molecular genetics 2017) 3 4 74
  2. Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5). (PMID: 15221505) Ferrando-Miguel R … Lubec G (Amino acids 2004) 2 3 23
  3. Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. (PMID: 10814524) Shibuya K … Shimizu N (Biochemical and biophysical research communications 2000) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PMID: 16162815) Murakami Y … Kinoshita T (Molecular biology of the cell 2005) 3 4

Products for PIGP Gene

Sources for PIGP Gene