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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 N-Acetylglucosaminyltransferase Subunit P 3
  • EC 2.4.1.198 4
  • DCRC-S 3
  • EIEE55 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 Epileptic Encephalopathy, Early Infantile, 55 and Epileptic Encephalopathy, Early Infantile, 15. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis 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

Additional gene information for PIGP Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H037071 1.2 ENCODE 59.6 +0.0 27 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF416 SETD4 TTC3 ENSG00000242553 PIGP DYRK1A MORC3 TTC3-AS1 MRPL20P1 RN7SL678P DSCR4-IT1
GH21H037059 1.2 Ensembl ENCODE 57.7 +12.3 12322 2 FOXA2 ARID4B SIN3A FEZF1 ZNF2 FOS TSHZ1 REST SREBF1 NFIL3 PIGP TTC3 MRPL20P1 ENSG00000207416 HLCS LOC105372795 GC21P037046
GH21H037206 1.2 Ensembl ENCODE 46.3 -134.8 -134848 3 HDGF PKNOX1 FOXA2 ARID4B ZNF143 ZNF207 FOS ATF7 RUNX3 MXD4 TTC3 PIGP DSCR3 DSCR9 GC21P037206
GH21H037223 0.8 Ensembl ENCODE 39.9 -151.9 -151871 3 NFIC NFIB HLF SCRT2 ZBTB33 RUNX3 PRDM1 PIGP TTC3 ENSG00000242553 ENSG00000272948
GH21H037256 2 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -185.1 -185051 4 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TTC3 PIGP TTC3-AS1 DYRK1A ENSG00000272948 ENSG00000242553
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000142112 -330 3001 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF416 ZNF143

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

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):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 From GWAS Catalog for PIGP Gene

Gene Ontology (GO) - Molecular Function for PIGP Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

Animal Model Products

CRISPR Products

miRNA for PIGP Gene

miRTarBase miRNAs that target PIGP

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIGP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for 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
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
endoplasmic reticulum 5
plasma membrane 3
extracellular 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 IEA --
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

(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 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIGP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PIGP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of PIGP Gene:

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(4.5)
  • Kidney(4.2)
  • Blood(4)
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 , 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 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
OneToMany
PIGP 33
  • 92.04 (n)
-- 34
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PIGP 33 34
  • 89.06 (n)
-- 34
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pigp 33 16 34
  • 86.87 (n)
rat
(Rattus norvegicus)
Mammalia Pigp 33
  • 86.36 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGP 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGP 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGP 33
  • 73.33 (n)
lizard
(Anolis carolinensis)
Reptilia PIGP 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigp 33
  • 73.44 (n)
Str.10811 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33103 33
zebrafish
(Danio rerio)
Actinopterygii pigp 33 34
  • 62.93 (n)
Species where no ortholog for PIGP was found in the sources mined by GeneCards:
  • 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
rs1000277254 -- 37,069,893(+) AGCAA(C/T)TGTTG intron-variant
rs1000389746 -- 37,073,965(+) GCATG(C/G)GTCCT intron-variant, upstream-variant-2KB
rs1000440649 -- 37,073,649(+) GAGGG(C/T)GTGAG intron-variant, upstream-variant-2KB
rs1000568369 -- 37,068,674(+) TCAAC(C/T)GGTGA intron-variant
rs1000605812 -- 37,068,086(+) TCACT(A/G)GCCTC intron-variant

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)

Relevant External Links for PIGP Gene

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

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

Disorders for PIGP Gene

MalaCards: The human disease database

(3) MalaCards diseases for PIGP Gene - From: HGMD, OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 55
epileptic encephalopathy, early infantile, 15
  • ohtahara syndrome
down syndrome
  • leukemia, megakaryoblastic, with or without down syndrome, somatic
- 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. 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 22 60
  2. 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 60
  3. 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 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 60

Products for PIGP Gene

Sources for PIGP Gene

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