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Aliases for PIGP Gene

Aliases for PIGP Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class P 2 3 5
  • 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
  • DCRC 3 4
  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class P 3
  • EC 2.4.1.198 4
  • DCRC-S 3
  • DSCRC 4
  • DSRC 3

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 Down Syndrome. Among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism. GO annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.

UniProtKB/Swiss-Prot for PIGP Gene

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

Gene Wiki entry for PIGP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGP Gene

Genomics for PIGP Gene

Regulatory Elements for PIGP Gene

Enhancers for PIGP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIGP on UCSC Golden Path with GeneCards custom track

Promoters for PIGP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIGP on UCSC Golden Path with GeneCards custom track

Genomic Location for PIGP Gene

Chromosome:
21
Start:
37,059,170 bp from pter
End:
37,073,170 bp from pter
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:
    • B2RB18
    • B2RE99
    • B5BU92
    • D3DSG7
    • J3KR75
    • Q53Y28
    • Q96KI1
    • Q9NZA6

    Protein attributes for PIGP Gene

    Size:
    158 amino acids
    Molecular mass:
    18059 Da
    Quaternary structure:
    • Associates with PIGA, PIGC, PIGH, PIGQ and DPM2. The latter is not essential for activity.

    Alternative splice isoforms for PIGP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGP Gene

Proteomics data for PIGP Gene at MOPED

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

Protein Domains for PIGP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGP Gene

GenScript: Design optimal peptide antigens:

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 CatalyticActivity:
UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.
UniProtKB/Swiss-Prot Function:
Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.

Enzyme Numbers (IUBMB) for PIGP Gene

Phenotypes for PIGP Gene

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

Animal Model Products

miRNA for PIGP Gene

miRTarBase miRNAs that target PIGP

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
Jensen Localization Image for PIGP Gene COMPARTMENTS Subcellular localization image for PIGP gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGP Gene

GO ID Qualified GO term Evidence PubMed IDs
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 IEA --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification 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

(4) Drugs for PIGP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist Endogenous agonist at S1P1-5 0

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

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

Transcripts for PIGP Gene

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
ECgene alternative splicing isoforms for
PIGP

Expression for PIGP Gene

mRNA expression in normal human tissues for PIGP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for PIGP Gene Hs.656565

mRNA Expression by UniProt/SwissProt for PIGP Gene

P57054-PIGP_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with PIGP: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia PIGP 35
  • 89.06 (n)
  • 94.53 (a)
-- 36
  • 87 (a)
OneToMany
PIGP 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PIGP 35
  • 92.04 (n)
  • 94.78 (a)
-- 36
  • 95 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pigp 35
  • 86.87 (n)
  • 91.67 (a)
Pigp 16
Pigp 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIGP 35
  • 99.5 (n)
  • 100 (a)
PIGP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigp 35
  • 86.36 (n)
  • 92.42 (a)
oppossum
(Monodelphis domestica)
Mammalia PIGP 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGP 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGP 35
  • 73.33 (n)
  • 80.77 (a)
lizard
(Anolis carolinensis)
Reptilia PIGP 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigp 35
  • 73.44 (n)
  • 81.25 (a)
Str.10811 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33103 35
zebrafish
(Danio rerio)
Actinopterygii pigp 35
  • 62.93 (n)
  • 64 (a)
pigp 36
  • 42 (a)
OneToOne
Species with no ortholog for PIGP:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for PIGP Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_050538 -
VAR_050539 -
VAR_061521 -
rs2835570 -- 37,067,204(+) GGGTA(A/G)AAGTG intron-variant
rs2835571 -- 37,068,252(+) CTTTC(G/T)GGAAC intron-variant

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

Variant ID Type Subtype PubMed ID
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PIGP Gene

Disorders for PIGP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIGP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PIGP in MalaCards View complete list of genes associated with diseases

Relevant External Links for PIGP

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

No data available for UniProtKB/Swiss-Prot and Genatlas for PIGP Gene

Publications for PIGP Gene

  1. Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. (PMID: 10814524) Shibuya K. … Shimizu N. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 67
  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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  4. The Aspergillus nidulans pigP gene encodes a subunit of GPI-N-acetylglucosaminyltransferase which influences filamentation and protein secretion. (PMID: 19421754) PiA8syk S. … Paszewski A. (Curr. Genet. 2009) 23
  5. Down syndrome critical region protein 5 regulates membrane localization of Wnt receptors, Dishevelled stability and convergent extension in vertebrate embryos. (PMID: 19465602) Shao M. … Shi D.L. (Development 2009) 23

Products for PIGP Gene

Sources for PIGP Gene

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