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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
External Ids for PIGP Gene
- HGNC: 3046
- Entrez Gene: 51227
- Ensembl: ENSG00000185808
- OMIM: 605938
- UniProtKB: P57054
Previous HGNC Symbols for PIGP Gene
- DSCR5
Previous GeneCards Identifiers for PIGP Gene
- GC21M037360
- GC21M038435
- GC21M023913
Summaries 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 Early Infantile Epileptic Encephalopathy. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for PIGP Gene
- HGNC(3046)
- Entrez Gene(51227)
- Ensembl(ENSG00000185808)
- OMIM(605938)
- UniProtKB(P57054)
- Open Targets Platform(ENSG00000185808)
- Monarch Initiative
- Search for PIGP at DataMed
- Search for PIGP at HumanCyc
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
Genomic Locations for PIGP Gene
- chr21:37,059,170-37,073,170
- (GRCh38/hg38)
- Size:
- 14,001 bases
- Orientation:
- Minus strand
- chr21:38,431,470-38,445,470
- (GRCh37/hg19)
- 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:
-
- 21q22.13 by HGNC
- 21q22.13 by Entrez Gene
- 21q22.13 by Ensembl
PIGP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A0A0C4DH71
- B2RB18
- B2RE99
- B5BU92
- D3DSG7
- J3KR75
- Q53Y28
- Q96KI1
- Q9NZA6
Protein attributes for PIGP Gene
- Size:
- 158 amino acids
- Molecular mass:
- 18089 Da
- Quaternary structure:
-
- Associates with PIGA, PIGC, PIGH, PIGQ and DPM2. The latter is not essential for activity.
Post-translational modifications for PIGP Gene
Other Protein References for PIGP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ PIGP Antibody
-
Custom Antibody ServicesOriGene Antibodies for PIGP
- Novus Biologicals Antibodies for PIGP
- Invitrogen Antibodies for PIGP (AFLGC-PIGP)
-
Boster Bio Antibodies for PIGP
- Sino Biological Antibodies for PIGP
Protein Products
-
OriGene Purified Proteins for PIGP
- Search Origene for MassSpec and Protein Over-expression Lysates for PIGP
- Origene Custom Protein Services for PIGP
-
Abcam proteins for PIGP
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- Family:
-
- Belongs to the PIGP family.
Function for PIGP Gene
Molecular function for PIGP Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + UDP-N-acetyl-alpha-D-glucosamine = a 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(+) + UDP; Xref=Rhea:RHEA:14789, ChEBI:CHEBI:15378, ChEBI:CHEBI:57265, ChEBI:CHEBI:57705, ChEBI:CHEBI:57880, ChEBI:CHEBI:58223; EC=2.4.1.198;.
Enzyme Numbers (IUBMB) for PIGP Gene
Phenotypes From GWAS Catalog 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 |
Phenotypes for PIGP Gene
- GenomeRNAi human phenotypes for PIGP:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIGP - Select products 50% OFF >
- * PIGP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PIGP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIGP
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGP
miRNA for PIGP Gene
- miRTarBase miRNAs that target PIGP
-
- hsa-miR-320a (MIRT044441)
- hsa-let-7e-5p (MIRT051515)
- hsa-miR-6864-5p (MIRT456812)
- hsa-miR-6780b-5p (MIRT456813)
- hsa-miR-4725-3p (MIRT456814)
- hsa-miR-4271 (MIRT456815)
- hsa-miR-6828-5p (MIRT456816)
- hsa-miR-298 (MIRT456817)
- hsa-miR-4708-3p (MIRT456818)
- hsa-miR-3179 (MIRT456819)
- hsa-miR-6783-5p (MIRT456820)
- hsa-miR-7515 (MIRT456821)
- hsa-miR-5010-3p (MIRT516650)
- hsa-miR-2113 (MIRT516651)
- hsa-miR-411-5p (MIRT516652)
- hsa-miR-6832-5p (MIRT516653)
- hsa-miR-4775 (MIRT516654)
- hsa-miR-4735-5p (MIRT516655)
- hsa-miR-4524a-3p (MIRT516656)
- hsa-miR-4524b-3p (MIRT516657)
- hsa-miR-590-3p (MIRT516658)
- hsa-miR-7855-5p (MIRT569445)
- hsa-miR-6858-5p (MIRT569446)
- hsa-miR-4439 (MIRT569447)
- hsa-miR-4689 (MIRT569448)
- hsa-miR-3136-5p (MIRT569449)
- hsa-miR-3118 (MIRT569450)
- hsa-miR-134-5p (MIRT569451)
- hsa-miR-876-3p (MIRT569452)
- hsa-miR-323a-5p (MIRT569453)
- hsa-miR-4710 (MIRT569454)
- hsa-miR-4792 (MIRT569455)
- hsa-miR-4765 (MIRT569456)
- hsa-miR-1236-5p (MIRT569457)
- hsa-miR-4784 (MIRT569458)
- hsa-miR-3150b-3p (MIRT569459)
- hsa-miR-6857-3p (MIRT569460)
- hsa-miR-4513 (MIRT569461)
- hsa-miR-6855-3p (MIRT569462)
- hsa-miR-4790-3p (MIRT569463)
- hsa-miR-4539 (MIRT569464)
- hsa-miR-3174 (MIRT569465)
- hsa-miR-4433b-3p (MIRT569466)
- hsa-miR-4724-5p (MIRT569467)
- hsa-miR-4446-5p (MIRT637345)
- hsa-miR-6826-3p (MIRT637346)
- hsa-miR-6756-3p (MIRT637347)
- hsa-miR-6832-3p (MIRT637348)
- hsa-miR-3127-3p (MIRT637349)
- hsa-miR-1208 (MIRT637350)
- hsa-miR-892c-3p (MIRT637351)
- hsa-miR-4676-3p (MIRT637352)
- hsa-miR-452-5p (MIRT637353)
- hsa-miR-378a-5p (MIRT646358)
- hsa-miR-6821-3p (MIRT646359)
- hsa-miR-6882-3p (MIRT646360)
- hsa-miR-6790-3p (MIRT646361)
- hsa-miR-3653-5p (MIRT646362)
- hsa-miR-4267 (MIRT646363)
- hsa-miR-125a-3p (MIRT646364)
- hsa-miR-5586-5p (MIRT646365)
- hsa-miR-22-3p (MIRT646366)
- hsa-miR-6514-3p (MIRT693372)
- hsa-miR-6811-3p (MIRT693373)
- hsa-miR-214-5p (MIRT693374)
- hsa-miR-103b (MIRT693375)
- hsa-miR-890 (MIRT693376)
- hsa-miR-1292-3p (MIRT737125)
- hsa-miR-6807-5p (MIRT756534)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGP
- Browse OriGene Inhibitory RNA Products For PIGP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGP
Clone Products
- Applied Biological Materials (abm): Clones for PIGP - Select products 50% OFF >
- * PIGP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG216725
- MG216742
- MG216750
- MG216764
- MG218207
- MG218222
- MR216725
- MR216725L3
- MR216725L4
- MR216742
- MR216742L3
- MR216742L4
- MR216750
- MR216750L3
- MR216750L4
- MR216764
- MR216764L3
- MR216764L4
- MR218207
- MR218207L3
- MR218207L4
- MR218222
- MR218222L3
- MR218222L4
- RC203040
- RC203040L3
- RC203040L4
- RC223197
- RC223197L3
- RC223197L4
- RG203040
- RG223197
- RR204948
- RR204948L3
- RR204948L4
- MR216725L3V
- MR216725L4V
- MR216742L3V
- MR216742L4V
- MR216750L3V
- MR216750L4V
- MR216764L3V
- MR216764L4V
- MR218207L3V
- MR218207L4V
- MR218222L3V
- MR218222L4V
- RC203040L3V
- RC203040L4V
- RC223197L3V
- RC223197L4V
- RR204948L3V
- RR204948L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PIGP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGP
Cell Line Products
-
Horizon Cell Lines for PIGP
No data available for 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| extracellular | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for PIGP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Post-translational modification- synthesis of GPI-anchored proteins | ||
Pathways by source for PIGP Gene
2 KEGG pathways for PIGP Gene
UniProtKB/Swiss-Prot P57054-PIGP_HUMAN
- Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Interacting Proteins for PIGP Gene
Selected Interacting proteins:
P57054-PIGP_HUMAN
ENSP00000420037
for PIGP Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PIGP
| 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 | -- |
No data available for SIGNOR curated interactions for PIGP Gene
Drugs & Compounds for PIGP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phytosphingosine | Experimental | Pharma | 0 | |||
| Sphingosine | Experimental | Pharma | 0 | |||
| Uridine 5'-diphosphate | Experimental | Pharma | 0 | |||
| sphinganine | Pharma | 0 | ||||
| Sphingosine-1-phosphate | Pharma | Agonist, Full agonist | endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
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 :
-
- ENST00000329667 562 nts (view in UCSC)
- ENST00000360525 6998 nts (view in UCSC)
- ENST00000399098 972 nts (view in UCSC)
- ENST00000399102 688 nts (view in UCSC)
- ENST00000399103 656 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIGP - Select products 50% OFF >
- * PIGP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PIGP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIGP
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIGP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIGP
- Browse OriGene Inhibitory RNA Products For PIGP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGP
Clone Products
- Applied Biological Materials (abm): Clones for PIGP - Select products 50% OFF >
- * PIGP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG216725
- MG216742
- MG216750
- MG216764
- MG218207
- MG218222
- MR216725
- MR216725L3
- MR216725L4
- MR216742
- MR216742L3
- MR216742L4
- MR216750
- MR216750L3
- MR216750L4
- MR216764
- MR216764L3
- MR216764L4
- MR218207
- MR218207L3
- MR218207L4
- MR218222
- MR218222L3
- MR218222L4
- RC203040
- RC203040L3
- RC203040L4
- RC223197
- RC223197L3
- RC223197L4
- RG203040
- RG223197
- RR204948
- RR204948L3
- RR204948L4
- MR216725L3V
- MR216725L4V
- MR216742L3V
- MR216742L4V
- MR216750L3V
- MR216750L4V
- MR216764L3V
- MR216764L4V
- MR218207L3V
- MR218207L4V
- MR218222L3V
- MR218222L4V
- RC203040L3V
- RC203040L4V
- RC223197L3V
- RC223197L4V
- RR204948L3V
- RR204948L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PIGP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIGP
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGP
SOURCE GeneReport for Unigene cluster for PIGP Gene:
Hs.656565mRNA 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(4.4)
- Blood(4.3)
- Muscle(2.1)
- Skin(2.1)
- Intestine(2.1)
- Heart(2.1)
- Liver(2)
Primer Products
-
OriGene qPCR primer pairs for PIGP
-
OriGene qPCR primer pairs and template standards for PIGP
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PIGP 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| PIGP 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | PIGP 30 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Pigp 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pigp 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PIGP 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PIGP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PIGP 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | PIGP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pigp 30 |
|
||
| Str.10811 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.33103 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pigp 30 31 |
|
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
Pseudogenes.org Pseudogenes for PIGP Gene
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 |
|---|---|---|---|---|---|
| 666911 | Uncertain Significance: not specified | 37,072,532(-) | G/GACAATCTGTGGAA | SPLICE_ACCEPTOR_VARIANT,FRAMESHIFT_VARIANT | |
| 709520 | Benign: not provided | 37,065,660(-) | T/G | SYNONYMOUS_VARIANT | |
| 709521 | Benign: not provided | 37,067,340(-) | T/C | MISSENSE_VARIANT | |
| 713319 | Benign: not provided | 37,065,618(-) | G/A | SYNONYMOUS_VARIANT | |
| 789860 | Benign: not provided | 37,065,706(-) | T/C | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3575389 | CNV | gain | 25503493 |
| nsv1066107 | CNV | loss | 25217958 |
| nsv3510 | CNV | insertion | 18451855 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGP Gene
Disorders for PIGP Gene
(6) MalaCards diseases for PIGP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 55 |
|
|
| early infantile epileptic encephalopathy |
|
|
| down syndrome |
|
|
| fallopian tube serous adenocarcinoma |
|
|
| sclerosing liposarcoma |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for PIGP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PIGP Gene
Publications for PIGP Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for PIGP Gene
- Custom Antibody ServicesOriGene Antibodies for PIGP
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- VectorBuilder Stable cell line generation for PIGP
- antibodies-online: Show 11 available PIGP Antibodies ranked by validation data
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- antibodies-online: Show 4 available PIGP Proteins ranked by validation data
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- Boster Bio Antibodies for PIGP
- Browse Boster Bio ELISA Kits
Sources for PIGP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
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- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
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- (53) PubMed
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (84) COMPARTMENTS
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- (90) CYP
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- (104) diseasecard
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