Details for: GPAA1

Gene ID: 8733

Symbol: GPAA1

Ensembl ID: ENSG00000197858

Description: glycosylphosphatidylinositol anchor attachment 1

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: 165.9324
    Cell Significance Index: -25.8100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 123.8944
    Cell Significance Index: -31.4300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 89.5318
    Cell Significance Index: -42.2700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 82.6570
    Cell Significance Index: -33.5800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 76.0131
    Cell Significance Index: -39.1000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.5488
    Cell Significance Index: -33.9400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 29.1251
    Cell Significance Index: -35.9100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.3742
    Cell Significance Index: -30.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.6400
    Cell Significance Index: -38.0400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.3897
    Cell Significance Index: -28.8400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.8616
    Cell Significance Index: -10.6400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.3651
    Cell Significance Index: 110.2700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 2.1588
    Cell Significance Index: 1949.2000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.6524
    Cell Significance Index: 13.8800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.9949
    Cell Significance Index: 127.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9860
    Cell Significance Index: 135.4100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9202
    Cell Significance Index: 47.8000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.9040
    Cell Significance Index: 493.7100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7623
    Cell Significance Index: 20.7500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7051
    Cell Significance Index: 18.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6918
    Cell Significance Index: 124.7100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6802
    Cell Significance Index: 9.2800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.6146
    Cell Significance Index: 28.8900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5842
    Cell Significance Index: 41.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5659
    Cell Significance Index: 112.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5590
    Cell Significance Index: 72.2200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5375
    Cell Significance Index: 40.0600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5319
    Cell Significance Index: 65.4100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5313
    Cell Significance Index: 234.9000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5301
    Cell Significance Index: 27.8300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4932
    Cell Significance Index: 34.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4780
    Cell Significance Index: 30.8400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4662
    Cell Significance Index: 16.2000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4644
    Cell Significance Index: 24.1900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4459
    Cell Significance Index: 12.4600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4332
    Cell Significance Index: 12.4800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4292
    Cell Significance Index: 50.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4018
    Cell Significance Index: 18.2100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3337
    Cell Significance Index: 21.0300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3124
    Cell Significance Index: 6.5400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2999
    Cell Significance Index: 207.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2748
    Cell Significance Index: 52.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2384
    Cell Significance Index: 40.7100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2236
    Cell Significance Index: 3.3500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2179
    Cell Significance Index: 43.7100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1278
    Cell Significance Index: 1.0200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0983
    Cell Significance Index: 9.7200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0753
    Cell Significance Index: 27.0200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0524
    Cell Significance Index: 1.8400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0429
    Cell Significance Index: 0.4000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0340
    Cell Significance Index: 24.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0262
    Cell Significance Index: 19.8500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0260
    Cell Significance Index: 0.6000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0241
    Cell Significance Index: 0.6300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0112
    Cell Significance Index: 0.3000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0006
    Cell Significance Index: -0.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0057
    Cell Significance Index: -3.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0063
    Cell Significance Index: -11.7900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0078
    Cell Significance Index: -5.8000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0096
    Cell Significance Index: -1.0400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0117
    Cell Significance Index: -0.3500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0236
    Cell Significance Index: -43.5100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0302
    Cell Significance Index: -3.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0302
    Cell Significance Index: -46.5300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0308
    Cell Significance Index: -3.1500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0308
    Cell Significance Index: -17.3800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0362
    Cell Significance Index: -23.0100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0365
    Cell Significance Index: -49.6200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0616
    Cell Significance Index: -0.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0698
    Cell Significance Index: -31.6700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0727
    Cell Significance Index: -15.3200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0813
    Cell Significance Index: -13.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1389
    Cell Significance Index: -39.9600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1507
    Cell Significance Index: -3.2100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1662
    Cell Significance Index: -18.9800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1881
    Cell Significance Index: -27.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2129
    Cell Significance Index: -6.8200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2359
    Cell Significance Index: -27.4900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3211
    Cell Significance Index: -18.0200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3421
    Cell Significance Index: -8.7400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3618
    Cell Significance Index: -37.6700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3810
    Cell Significance Index: -29.2400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.4084
    Cell Significance Index: -4.4400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4153
    Cell Significance Index: -32.9000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.4154
    Cell Significance Index: -5.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4240
    Cell Significance Index: -26.0600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4416
    Cell Significance Index: -12.6600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4463
    Cell Significance Index: -30.0100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4540
    Cell Significance Index: -9.8400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.4598
    Cell Significance Index: -4.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5106
    Cell Significance Index: -8.7500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5151
    Cell Significance Index: -6.1400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6759
    Cell Significance Index: -41.4400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7313
    Cell Significance Index: -21.5400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.7969
    Cell Significance Index: -35.2500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.8251
    Cell Significance Index: -15.2500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.8389
    Cell Significance Index: -20.9700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8428
    Cell Significance Index: -30.9400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8465
    Cell Significance Index: -21.7600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.8490
    Cell Significance Index: -18.5900

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:** GPAA1 is a gene that encodes a protein involved in the attachment of GPI anchors to target proteins. The GPI anchor is a complex lipid molecule that is covalently attached to proteins, enabling them to interact with specific receptors and participate in various cellular processes. GPAA1 is a key component of the GPI anchor attachment machinery, responsible for facilitating the attachment of GPI anchors to target proteins. The GPAA1 protein is a member of the GPI anchor attachment complex, which also includes other proteins such as GPI anchor transamidase and GPI anchor transamidase complex. **Pathways and Functions:** GPAA1 is involved in various cellular pathways, including: 1. **Attachment of GPI anchor to protein**: GPAA1 is responsible for attaching GPI anchors to target proteins, which is essential for protein stability, localization, and function. 2. **Attachment of GPI anchor to UPAR**: GPAA1 also attaches GPI anchors to the Urokinase-type Plasminogen Activator Receptor (UPAR), a receptor that plays a crucial role in cell migration, invasion, and angiogenesis. 3. **Centrosome organization**: GPAA1 is involved in the organization of centrosomes, which are critical structures involved in cell division, cytokinesis, and cell polarity. 4. **Cytoskeleton organization**: GPAA1 also interacts with the cytoskeleton, which is essential for maintaining cell shape, motility, and intracellular transport. 5. **Endoplasmic reticulum (ER) function**: GPAA1 is involved in the ER function, which is essential for protein folding, quality control, and lipid metabolism. **Clinical Significance:** GPAA1 is significantly expressed in various cell types, including extravillous trophoblasts, oogonial cells, and myeloid leukocytes. Abnormal expression or function of GPAA1 has been implicated in various diseases, including: 1. **Pregnancy complications**: GPAA1 is involved in the regulation of placental development and function, and its dysregulation has been linked to pregnancy complications such as preeclampsia and gestational diabetes. 2. **Cancer**: GPAA1 is overexpressed in various types of cancer, including breast, lung, and colon cancer, and its dysregulation has been linked to tumor progression and metastasis. 3. **Autoimmune diseases**: GPAA1 is involved in the regulation of immune cell function, and its dysregulation has been linked to autoimmune diseases such as rheumatoid arthritis and lupus. 4. **Neurological disorders**: GPAA1 is involved in the regulation of neuronal function, and its dysregulation has been linked to neurological disorders such as Alzheimer's disease and Parkinson's disease. In conclusion, GPAA1 is a critical regulator of protein modification and cellular function, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the role of GPAA1 in different physiological and pathological processes.

Genular Protein ID: 3563959304

Symbol: GPAA1_HUMAN

Name: Glycosylphosphatidylinositol anchor attachment 1 protein

UniProtKB Accession Codes:

O43292 Q9NSS0 Q9UQ31

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 DNASU 1 DisGeNET 1 EMBL 8 EMDB 2 Ensembl 2 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9468317

Title: Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins.

PubMed ID: 9468317

DOI: 10.1016/s0014-5793(97)01576-7

PubMed ID: 10393431

Title: Human and mouse GPAA1 (glycosylphosphatidylinositol anchor attachment 1) genes: genomic structures, chromosome loci and the presence of a minor class intron.

PubMed ID: 10393431

DOI: 10.1159/000015258

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

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: 11483512

Title: PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8.

PubMed ID: 11483512

DOI: 10.1093/emboj/20.15.4088

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 29100095

Title: Mutations in GPAA1, encoding a GPI transamidase complex protein, cause developmental delay, epilepsy, cerebellar atrophy, and osteopenia.

PubMed ID: 29100095

DOI: 10.1016/j.ajhg.2017.09.020

PubMed ID: 34576938

Title: Functional analysis of the GPI transamidase complex by screening for amino acid mutations in each subunit.

PubMed ID: 34576938

DOI: 10.3390/molecules26185462

Sequence Information:

  • Length: 621
  • Mass: 67623
  • Checksum: A70AC8758A919A98
  • Sequence:
    • MGLLSDPVRR RALARLVLRL NAPLCVLSYV AGIAWFLALV FPPLTQRTYM SENAMGSTMV 
EEQFAGGDRA RAFARDFAAH RKKSGALPVA WLERTMRSVG LEVYTQSFSR KLPFPDETHE 
RYMVSGTNVY GILRAPRAAS TESLVLTVPC GSDSTNSQAV GLLLALAAHF RGQIYWAKDI 
VFLVTEHDLL GTEAWLEAYH DVNVTGMQSS PLQGRAGAIQ AAVALELSSD VVTSLDVAVE 
GLNGQLPNLD LLNLFQTFCQ KGGLLCTLQG KLQPEDWTSL DGPLQGLQTL LLMVLRQASG 
RPHGSHGLFL RYRVEALTLR GINSFRQYKY DLVAVGKALE GMFRKLNHLL ERLHQSFFLY 
LLPGLSRFVS IGLYMPAVGF LLLVLGLKAL ELWMQLHEAG MGLEEPGGAP GPSVPLPPSQ 
GVGLASLVAP LLISQAMGLA LYVLPVLGQH VATQHFPVAE AEAVVLTLLA IYAAGLALPH 
NTHRVVSTQA PDRGWMALKL VALIYLALQL GCIALTNFSL GFLLATTMVP TAALAKPHGP 
RTLYAALLVL TSPAATLLGS LFLWRELQEA PLSLAEGWQL FLAALAQGVL EHHTYGALLF 
PLLSLGLYPC WLLFWNVLFW K

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.