Details for: PIGP

Gene ID: 51227

Symbol: PIGP

Ensembl ID: ENSG00000185808

Description: phosphatidylinositol glycan anchor biosynthesis class P

Associated with

  • Metabolism of proteins
    (R-HSA-392499)
  • Post-translational modification: synthesis of gpi-anchored proteins
    (R-HSA-163125)
  • Post-translational protein modification
    (R-HSA-597592)
  • Synthesis of glycosylphosphatidylinositol (gpi)
    (R-HSA-162710)
  • Endoplasmic reticulum
    (GO:0005783)
  • Endoplasmic reticulum membrane
    (GO:0005789)
  • Glycosylphosphatidylinositol-n-acetylglucosaminyltransferase (gpi-gnt) complex
    (GO:0000506)
  • Gpi anchor biosynthetic process
    (GO:0006506)
  • Phosphatidylinositol n-acetylglucosaminyltransferase activity
    (GO:0017176)
  • Protein binding
    (GO:0005515)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 180.5906
    Cell Significance Index: -28.0900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 76.7573
    Cell Significance Index: -31.6200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 71.2812
    Cell Significance Index: -18.0800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 62.0543
    Cell Significance Index: -25.2100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 54.4728
    Cell Significance Index: -28.0200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 44.5738
    Cell Significance Index: -29.9100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.4469
    Cell Significance Index: -25.2500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 23.9262
    Cell Significance Index: -29.5000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.0673
    Cell Significance Index: -24.2900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.5797
    Cell Significance Index: -29.9100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.9548
    Cell Significance Index: -18.2900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.0254
    Cell Significance Index: -8.8100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.2807
    Cell Significance Index: 136.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.2003
    Cell Significance Index: 114.3000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.9743
    Cell Significance Index: 1782.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.9011
    Cell Significance Index: 50.9400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.9005
    Cell Significance Index: 14.3500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.8455
    Cell Significance Index: 200.7300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.6867
    Cell Significance Index: 78.6400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.3053
    Cell Significance Index: 35.5300
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.2314
    Cell Significance Index: 28.4500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.2179
    Cell Significance Index: 10.2300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9690
    Cell Significance Index: 67.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9225
    Cell Significance Index: 166.3100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8947
    Cell Significance Index: 488.5900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8569
    Cell Significance Index: 105.3600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7336
    Cell Significance Index: 100.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6279
    Cell Significance Index: 80.4900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6136
    Cell Significance Index: 5.6500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.6038
    Cell Significance Index: 28.3800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.5783
    Cell Significance Index: 98.7500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5092
    Cell Significance Index: 65.7900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4919
    Cell Significance Index: 31.0000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4850
    Cell Significance Index: 34.3000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3850
    Cell Significance Index: 17.4500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3734
    Cell Significance Index: 165.0800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3657
    Cell Significance Index: 23.5900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3401
    Cell Significance Index: 25.3500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3337
    Cell Significance Index: 7.2300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3073
    Cell Significance Index: 30.4000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2959
    Cell Significance Index: 56.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2801
    Cell Significance Index: 7.3700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2593
    Cell Significance Index: 2.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2477
    Cell Significance Index: 49.6800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2372
    Cell Significance Index: 47.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1311
    Cell Significance Index: 47.0200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1309
    Cell Significance Index: 1.5600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1284
    Cell Significance Index: 15.1400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0835
    Cell Significance Index: 4.3800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0607
    Cell Significance Index: 0.9100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0555
    Cell Significance Index: 42.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0439
    Cell Significance Index: 32.1700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0211
    Cell Significance Index: 0.4500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0203
    Cell Significance Index: 0.6500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0190
    Cell Significance Index: 35.6900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0083
    Cell Significance Index: 0.2900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0038
    Cell Significance Index: 2.6500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0017
    Cell Significance Index: 1.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0012
    Cell Significance Index: 0.9200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0018
    Cell Significance Index: -1.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0086
    Cell Significance Index: -0.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0103
    Cell Significance Index: -18.9600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0110
    Cell Significance Index: -16.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0152
    Cell Significance Index: -1.5500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0190
    Cell Significance Index: -25.8600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0249
    Cell Significance Index: -14.0600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0354
    Cell Significance Index: -0.9100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0368
    Cell Significance Index: -0.9800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0429
    Cell Significance Index: -19.4800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0480
    Cell Significance Index: -10.1000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0529
    Cell Significance Index: -0.8900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0676
    Cell Significance Index: -1.9900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0849
    Cell Significance Index: -24.4300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1002
    Cell Significance Index: -11.4900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1376
    Cell Significance Index: -16.0400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1390
    Cell Significance Index: -20.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1464
    Cell Significance Index: -5.1500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1777
    Cell Significance Index: -9.9700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1831
    Cell Significance Index: -2.0800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2011
    Cell Significance Index: -4.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2092
    Cell Significance Index: -16.0600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2161
    Cell Significance Index: -13.2900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2252
    Cell Significance Index: -11.7300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2451
    Cell Significance Index: -27.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2462
    Cell Significance Index: -19.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2745
    Cell Significance Index: -28.5800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2976
    Cell Significance Index: -4.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3042
    Cell Significance Index: -8.5000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3386
    Cell Significance Index: -9.7100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3438
    Cell Significance Index: -23.1200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4030
    Cell Significance Index: -20.3600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4205
    Cell Significance Index: -18.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4715
    Cell Significance Index: -28.9100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.4782
    Cell Significance Index: -4.9500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4956
    Cell Significance Index: -9.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4967
    Cell Significance Index: -18.8100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5745
    Cell Significance Index: -21.0900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5836
    Cell Significance Index: -15.0000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5859
    Cell Significance Index: -10.0400
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.5936
    Cell Significance Index: -3.8700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **GPI-anchor biosynthesis:** The PIGP gene is involved in the biosynthesis of GPI anchors, which are carbohydrate structures that attach proteins to the cell surface. 2. **High expression in hematopoietic cells:** The PIGP gene is highly expressed in hematopoietic cells, including polychromatophilic erythroblasts, hematopoietic oligopotent progenitor cells, and CD8-alpha-beta-positive, alpha-beta intraepithelial T cells. 3. **Cell surface localization:** GPI-anchored proteins are localized to the cell surface, where they can interact with other molecules and participate in various cellular processes. 4. **Post-translational modification:** The PIGP gene is involved in the post-translational modification of proteins, specifically the synthesis of GPI-anchored proteins. **Pathways and Functions:** 1. **GPI-anchor biosynthetic process:** The PIGP gene is involved in the biosynthesis of GPI anchors, which are essential for the attachment of GPI-anchored proteins to the cell surface. 2. **Glycosylphosphatidylinositol-n-acetylglucosaminyltransferase (gpi-gnt) complex:** The PIGP gene is part of the gpi-gnt complex, which is responsible for the synthesis of GPI anchors. 3. **Metabolism of proteins:** The PIGP gene is involved in the metabolism of proteins, specifically the synthesis of GPI-anchored proteins. 4. **Phosphatidylinositol n-acetylglucosaminyltransferase activity:** The PIGP gene exhibits phosphatidylinositol n-acetylglucosaminyltransferase activity, which is essential for the synthesis of GPI anchors. **Clinical Significance:** 1. **Down syndrome:** Mutations in the PIGP gene have been associated with Down syndrome, a genetic disorder characterized by intellectual disability and various physical abnormalities. 2. **Immune dysfunction:** Abnormalities in GPI-anchored protein biosynthesis have been linked to immune dysfunction, including impaired immune cell function and increased susceptibility to infections. 3. **Cancer:** Alterations in GPI-anchored protein biosynthesis have been implicated in cancer, including increased cell adhesion and migration. 4. **Neurological disorders:** Abnormalities in GPI-anchored protein biosynthesis have been linked to neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, the PIGP gene plays a critical role in the biosynthesis of GPI-anchored proteins, which are essential for various cellular processes, including immune function, cell signaling, and cell adhesion. Mutations in the PIGP gene have been associated with Down syndrome, immune dysfunction, cancer, and neurological disorders, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 189514450

Symbol: PIGP_HUMAN

Name: Down syndrome critical region protein 5

UniProtKB Accession Codes:

P57054 A0A0C4DH71 B2RB18 B2RE99 B5BU92 D3DSG7 J3KR75 Q53Y28 Q96KI1 Q9NZA6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 27 Ensembl 5 ExpressionAtlas 1 GO 5 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 8 STRING 1 SignaLink 1 TopDownProteomics 2 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10814524

Title: Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2.

PubMed ID: 10814524

DOI: 10.1006/bbrc.2000.2685

PubMed ID: 10907851

Title: A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2.

PubMed ID: 10907851

DOI: 10.1093/dnares/7.3.207

PubMed ID: 10944123

Title: Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2.

PubMed ID: 10944123

DOI: 10.1093/emboj/19.16.4402

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 19054851

Title: Human protein factory for converting the transcriptome into an in vitro-expressed proteome.

PubMed ID: 19054851

DOI: 10.1038/nmeth.1273

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16162815

Title: The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.

PubMed ID: 16162815

DOI: 10.1091/mbc.e05-08-0743

PubMed ID: 28334793

Title: Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

PubMed ID: 28334793

DOI: 10.1093/hmg/ddx077

Sequence Information:

  • Length: 158
  • Mass: 18089
  • Checksum: 9309CEAC1DD777CF
  • Sequence:
    • MVPRSTSLTL IVFLFHRLSK APGKMVENSP SPLPERAIYG FVLFLSSQFG FILYLVWAFI 
PESWLNSLGL TYWPQKYWAV ALPVYLLIAI VIGYVLLFGI NMMSTSPLDS IHTITDNYAK 
NQQQKKYQEE AIPALRDISI SEVNQMFFLA AKELYTKN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.