Details for: PIGH

Gene ID: 5283

Symbol: PIGH

Ensembl ID: ENSG00000100564

Description: phosphatidylinositol glycan anchor biosynthesis class H

Associated with

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: 128.5800
    Cell Significance Index: -20.0000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 79.5211
    Cell Significance Index: -20.1700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.3720
    Cell Significance Index: -19.4500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.3340
    Cell Significance Index: -22.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.4094
    Cell Significance Index: -17.1700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.9376
    Cell Significance Index: -23.4300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.5288
    Cell Significance Index: -13.9100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.0522
    Cell Significance Index: -6.6800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.6131
    Cell Significance Index: 25.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.3467
    Cell Significance Index: 84.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.9491
    Cell Significance Index: 49.8300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.8845
    Cell Significance Index: 41.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8630
    Cell Significance Index: 23.1300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8087
    Cell Significance Index: 48.5500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.7818
    Cell Significance Index: 9.3200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5442
    Cell Significance Index: 88.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4352
    Cell Significance Index: 78.4500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4029
    Cell Significance Index: 20.9300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3645
    Cell Significance Index: 25.2100
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.3545
    Cell Significance Index: 5.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3457
    Cell Significance Index: 9.4100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3145
    Cell Significance Index: 139.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3027
    Cell Significance Index: 37.2300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2913
    Cell Significance Index: 20.6000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2905
    Cell Significance Index: 262.2700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2784
    Cell Significance Index: 35.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2639
    Cell Significance Index: 52.9400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2446
    Cell Significance Index: 6.5300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2437
    Cell Significance Index: 33.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2393
    Cell Significance Index: 130.7100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2326
    Cell Significance Index: 15.0100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2260
    Cell Significance Index: 156.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2241
    Cell Significance Index: 44.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1944
    Cell Significance Index: 5.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1636
    Cell Significance Index: 16.1800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1575
    Cell Significance Index: 7.4000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1562
    Cell Significance Index: 7.0800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1445
    Cell Significance Index: 3.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1345
    Cell Significance Index: 48.2600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1245
    Cell Significance Index: 14.6800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1032
    Cell Significance Index: 2.5800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0797
    Cell Significance Index: 15.1600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0676
    Cell Significance Index: 5.0400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0560
    Cell Significance Index: 7.2400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0547
    Cell Significance Index: 0.9200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0408
    Cell Significance Index: 1.1400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0392
    Cell Significance Index: 6.7000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0311
    Cell Significance Index: 58.5600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0167
    Cell Significance Index: 12.2100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0127
    Cell Significance Index: 0.4400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0073
    Cell Significance Index: 4.6200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0055
    Cell Significance Index: 10.1600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0046
    Cell Significance Index: 7.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0037
    Cell Significance Index: -2.8000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0038
    Cell Significance Index: -5.2300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0128
    Cell Significance Index: -5.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0211
    Cell Significance Index: -15.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0257
    Cell Significance Index: -2.6300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0333
    Cell Significance Index: -0.3500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0348
    Cell Significance Index: -19.6100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0414
    Cell Significance Index: -25.8400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0419
    Cell Significance Index: -4.8100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0535
    Cell Significance Index: -1.1200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0578
    Cell Significance Index: -1.8500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0578
    Cell Significance Index: -1.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0604
    Cell Significance Index: -17.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0706
    Cell Significance Index: -10.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0912
    Cell Significance Index: -5.1200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1052
    Cell Significance Index: -12.2600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1175
    Cell Significance Index: -3.0900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1194
    Cell Significance Index: -25.1600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1325
    Cell Significance Index: -2.2700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1340
    Cell Significance Index: -2.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1751
    Cell Significance Index: -13.4400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1904
    Cell Significance Index: -1.2900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1907
    Cell Significance Index: -1.4700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1943
    Cell Significance Index: -13.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2060
    Cell Significance Index: -21.4500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2089
    Cell Significance Index: -2.8500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2139
    Cell Significance Index: -1.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2211
    Cell Significance Index: -17.5100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2423
    Cell Significance Index: -6.1900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2447
    Cell Significance Index: -2.7800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2581
    Cell Significance Index: -7.4000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2904
    Cell Significance Index: -8.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3061
    Cell Significance Index: -18.7700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.3238
    Cell Significance Index: -2.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3253
    Cell Significance Index: -14.3900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3345
    Cell Significance Index: -2.8100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3346
    Cell Significance Index: -17.4300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.3620
    Cell Significance Index: -2.8900
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.3662
    Cell Significance Index: -3.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3903
    Cell Significance Index: -14.7800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3937
    Cell Significance Index: -10.1200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3984
    Cell Significance Index: -24.4900
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.4092
    Cell Significance Index: -3.0900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4122
    Cell Significance Index: -6.5400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4580
    Cell Significance Index: -12.2500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4590
    Cell Significance Index: -10.0500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4991
    Cell Significance Index: -14.7000

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 PIGH gene is involved in the synthesis of GPI anchors, which are composed of a PI head, a GPI tail, and a protein moiety. 2. **Endoplasmic Reticulum (ER) Membrane:** The PIGH protein is embedded in the ER membrane, where it plays a crucial role in the biosynthesis of GPI anchors. 3. **GPI-GNT Complex:** The PIGH protein interacts with the GPI-glycosylphosphatidylinositol-n-acetylglucosaminyltransferase (GPI-GNT) complex to facilitate the addition of the GPI tail to the PI head. 4. **Post-Translational Modification:** The PIGH gene is involved in the synthesis of GPI-anchored proteins, which are critical for maintaining cellular function and integrity. **Pathways and Functions:** The PIGH gene is involved in several cellular pathways, including: 1. **Gpi Anchor Biosynthetic Process:** The PIGH gene is essential for the biosynthesis of GPI anchors, which are composed of a PI head, a GPI tail, and a protein moiety. 2. **Metabolism of Proteins:** The PIGH gene plays a critical role in the synthesis of GPI-anchored proteins, which are essential for maintaining cellular function and integrity. 3. **Post-Translational Modification:** The PIGH gene is involved in the synthesis of GPI-anchored proteins, which are critical for maintaining cellular function and integrity. 4. **Catalytic Activity:** The PIGH gene encodes a protein that possesses catalytic activity, which is essential for the biosynthesis of GPI anchors. **Clinical Significance:** Dysregulation of the PIGH gene has been associated with several diseases, including: 1. **Paroxysmal Nocturnal Hemoglobinuria (PNH):** PNH is a rare, acquired, life-threatening disease characterized by the absence of GPI-anchored proteins on red blood cells. The PIGH gene is mutated in approximately 90% of PNH cases. 2. **Ataxia-Telangiectasia:** Ataxia-telangiectasia is a rare, autosomal recessive disorder characterized by ataxia, telangiectasias, and immunodeficiency. The PIGH gene is mutated in approximately 20% of ataxia-telangiectasia cases. 3. **Other Diseases:** The PIGH gene has also been associated with other diseases, including aplastic anemia, immunodeficiency, and cancer. In conclusion, the PIGH gene plays a critical role in the synthesis of GPI anchors, which are essential for maintaining cellular function and integrity. Dysregulation of the PIGH gene has been associated with several diseases, highlighting the importance of this gene in human health and disease. Further research is needed to fully understand the mechanisms of PIGH gene function and its role in disease pathogenesis.

Genular Protein ID: 2191831579

Symbol: PIGH_HUMAN

Name: Phosphatidylinositol-glycan biosynthesis class H protein

UniProtKB Accession Codes:

Q14442 B2RAA4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 6 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8407896

Title: Correction of the class H defect in glycosylphosphatidylinositol anchor biosynthesis in Ltk- cells by a human cDNA clone.

PubMed ID: 8407896

DOI: 10.1016/s0021-9258(19)36842-5

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 9463366

Title: The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PubMed ID: 9463366

DOI: 10.1093/emboj/17.4.877

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: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 29573052

Title: A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

PubMed ID: 29573052

DOI: 10.1002/humu.23420

PubMed ID: 29603516

Title: A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

PubMed ID: 29603516

DOI: 10.1002/humu.23426

Sequence Information:

  • Length: 188
  • Mass: 21081
  • Checksum: EE70E4156272AC8B
  • Sequence:
    • MEDERSFSDI CGGRLALQRR YYSPSCREFC LSCPRLSLRS LTAVTCTVWL AAYGLFTLCE 
NSMILSAAIF ITLLGLLGYL HFVKIDQETL LIIDSLGIQM TSSYASGKES TTFIEMGKVK 
DIVINEAIYM QKVIYYLCIL LKDPVEPHGI SQVVPVFQSA KPRLDCLIEV YRSCQEILAH 
QKATSTSP

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.