Details for: GMPPA

Gene ID: 29926

Symbol: GMPPA

Ensembl ID: ENSG00000144591

Description: GDP-mannose pyrophosphorylase A

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: 91.2275
    Cell Significance Index: -14.1900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 57.1472
    Cell Significance Index: -14.5000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 40.4542
    Cell Significance Index: -16.6700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.5686
    Cell Significance Index: -14.4500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.2816
    Cell Significance Index: -14.5900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.5309
    Cell Significance Index: -15.4500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.3465
    Cell Significance Index: -14.3200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.0281
    Cell Significance Index: -15.9000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.6600
    Cell Significance Index: 183.9500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.9053
    Cell Significance Index: -4.1700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4159
    Cell Significance Index: 154.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2001
    Cell Significance Index: 195.1900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.8052
    Cell Significance Index: 37.5400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3981
    Cell Significance Index: 359.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3920
    Cell Significance Index: 17.7700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3481
    Cell Significance Index: 4.7500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3248
    Cell Significance Index: 24.2100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3080
    Cell Significance Index: 16.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2729
    Cell Significance Index: 7.8600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2726
    Cell Significance Index: 26.9700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2434
    Cell Significance Index: 33.4200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2334
    Cell Significance Index: 6.2600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2102
    Cell Significance Index: 3.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2101
    Cell Significance Index: 9.8800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2093
    Cell Significance Index: 114.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1805
    Cell Significance Index: 4.8200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1723
    Cell Significance Index: 5.0600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1716
    Cell Significance Index: 118.6700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1691
    Cell Significance Index: 3.5400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1667
    Cell Significance Index: 1.4000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1493
    Cell Significance Index: 4.0700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1400
    Cell Significance Index: 27.7800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1225
    Cell Significance Index: 22.0900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1189
    Cell Significance Index: 15.3600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1116
    Cell Significance Index: 22.3800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1066
    Cell Significance Index: 47.1300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1002
    Cell Significance Index: 19.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0955
    Cell Significance Index: 2.6700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0803
    Cell Significance Index: 1.7100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0771
    Cell Significance Index: 9.0900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0551
    Cell Significance Index: 6.7700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0540
    Cell Significance Index: 9.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0354
    Cell Significance Index: 12.7200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0331
    Cell Significance Index: 1.0600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0323
    Cell Significance Index: 4.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0131
    Cell Significance Index: 9.9300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0071
    Cell Significance Index: 0.5100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0017
    Cell Significance Index: 0.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0020
    Cell Significance Index: -3.7400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0036
    Cell Significance Index: -2.6600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0069
    Cell Significance Index: -0.1200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0085
    Cell Significance Index: -15.7300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0106
    Cell Significance Index: -0.1100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0110
    Cell Significance Index: -16.9800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0119
    Cell Significance Index: -0.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0141
    Cell Significance Index: -1.4400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0146
    Cell Significance Index: -19.8000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0190
    Cell Significance Index: -12.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0211
    Cell Significance Index: -15.6000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0231
    Cell Significance Index: -13.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0251
    Cell Significance Index: -11.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0300
    Cell Significance Index: -18.7500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0325
    Cell Significance Index: -9.3500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0351
    Cell Significance Index: -0.8100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0698
    Cell Significance Index: -4.4000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0713
    Cell Significance Index: -5.4800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0724
    Cell Significance Index: -0.5900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0764
    Cell Significance Index: -2.1900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0768
    Cell Significance Index: -8.9500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0799
    Cell Significance Index: -9.1500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0826
    Cell Significance Index: -12.0100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0874
    Cell Significance Index: -18.4100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0933
    Cell Significance Index: -4.8600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1191
    Cell Significance Index: -3.1900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1217
    Cell Significance Index: -2.2500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1247
    Cell Significance Index: -6.3000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1420
    Cell Significance Index: -7.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1496
    Cell Significance Index: -15.5800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1523
    Cell Significance Index: -3.8900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1581
    Cell Significance Index: -12.5200
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1597
    Cell Significance Index: -1.0600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1737
    Cell Significance Index: -10.6500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1824
    Cell Significance Index: -4.8000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1853
    Cell Significance Index: -2.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2078
    Cell Significance Index: -13.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2250
    Cell Significance Index: -13.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2273
    Cell Significance Index: -7.9000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2355
    Cell Significance Index: -2.5600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2408
    Cell Significance Index: -4.0500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2502
    Cell Significance Index: -10.2500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2645
    Cell Significance Index: -5.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2657
    Cell Significance Index: -14.9100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2993
    Cell Significance Index: -4.2000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3050
    Cell Significance Index: -8.9900
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.3106
    Cell Significance Index: -2.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3260
    Cell Significance Index: -14.4200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.3283
    Cell Significance Index: -2.0400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3317
    Cell Significance Index: -11.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3398
    Cell Significance Index: -11.9400
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.3528
    Cell Significance Index: -2.3000

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:** GMPPA is a pyrophosphorylase enzyme that catalyzes the conversion of GDP-mannose to GDP-6-deoxymannose, a critical step in the synthesis of N-glycans. This reaction is essential for the formation of complex carbohydrate structures, which are attached to nascent proteins during glycosylation. GMPPA is a cytoplasmic enzyme, and its expression is widespread in various cell types, including germ cells, neural cells, and immune cells. The enzyme is also involved in the synthesis of GDP-mannose, a substrate for other glycosylation reactions. **Pathways and Functions:** GMPPA plays a central role in the biosynthesis of N-glycans, which involve the following steps: 1. **Synthesis of dolichol lipid-linked oligosaccharides (LLOs):** GMPPA catalyzes the conversion of GDP-mannose to GDP-6-deoxymannose, which is then used to synthesize LLOs. 2. **Transfer to nascent proteins:** LLOs are transferred to nascent proteins during glycosylation, resulting in the formation of N-glycans. 3. **Asparagine n-linked glycosylation:** GMPPA is also involved in the synthesis of asparagine-containing N-glycans, which play a critical role in cell signaling and recognition. In addition to its role in glycosylation, GMPPA is also involved in the synthesis of GDP-mannose, a substrate for other glycosylation reactions. **Clinical Significance:** Dysregulation of GMPPA has been implicated in various diseases, including: 1. **Immunodeficiency disorders:** Mutations in the GMPPA gene have been associated with immunodeficiency disorders, such as X-linked agammaglobulinemia. 2. **Cancer:** Aberrant glycosylation patterns have been observed in various cancers, including lung, breast, and colon cancer. 3. **Neurological disorders:** GMPPA has been implicated in the pathogenesis of neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, GMPPA plays a crucial role in the biosynthesis of N-glycans and the synthesis of GDP-mannose, highlighting its importance in cellular processes and disease. Further research is needed to elucidate the mechanisms underlying GMPPA-mediated glycosylation and its clinical significance in human disease.

Genular Protein ID: 2890341138

Symbol: GMPPA_HUMAN

Name: GDP-mannose pyrophosphorylase A

UniProtKB Accession Codes:

Q96IJ6 A6NJ74 A8K3Q6 B3KMT4 Q53GI0 Q9NWC3 Q9Y5P5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 2 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 3 Ensembl 7 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 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 3 PDBsum 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 6 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 33986552

Title: Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis.

PubMed ID: 33986552

DOI: 10.1038/s41594-021-00591-9

PubMed ID: 24035193

Title: Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

PubMed ID: 24035193

DOI: 10.1016/j.ajhg.2013.08.002

Sequence Information:

  • Length: 420
  • Mass: 46291
  • Checksum: 741B77ABA198D4BC
  • Sequence:
    • MLKAVILIGG PQKGTRFRPL SFEVPKPLFP VAGVPMIQHH IEACAQVPGM QEILLIGFYQ 
PDEPLTQFLE AAQQEFNLPV RYLQEFAPLG TGGGLYHFRD QILAGSPEAF FVLNADVCSD 
FPLSAMLEAH RRQRHPFLLL GTTANRTQSL NYGCIVENPQ THEVLHYVEK PSTFISDIIN 
CGIYLFSPEA LKPLRDVFQR NQQDGQLEDS PGLWPGAGTI RLEQDVFSAL AGQGQIYVHL 
TDGIWSQIKS AGSALYASRL YLSRYQDTHP ERLAKHTPGG PWIRGNVYIH PTAKVAPSAV 
LGPNVSIGKG VTVGEGVRLR ESIVLHGATL QEHTCVLHSI VGWGSTVGRW ARVEGTPSDP 
NPNDPRARMD SESLFKDGKL LPAITILGCR VRIPAEVLIL NSIVLPHKEL SRSFTNQIIL

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.