Details for: GMPPA

Gene ID: 29926

Symbol: GMPPA

Ensembl ID: ENSG00000144591

Description: GDP-mannose pyrophosphorylase A

Associated with

Cells (max top 100)

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

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.62
    Marker Score: 2,837
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,725
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,950
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,396
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.97
    Marker Score: 3,806
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14,936
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.95
    Marker Score: 6,062
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,399
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.94
    Marker Score: 1,247
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.92
    Marker Score: 2,099
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.91
    Marker Score: 870
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.9
    Marker Score: 4,335
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,705
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.89
    Marker Score: 1,112
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.87
    Marker Score: 1,831
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,244
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.85
    Marker Score: 3,683
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4,861
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.82
    Marker Score: 286
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.81
    Marker Score: 341
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,265
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.77
    Marker Score: 659
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.76
    Marker Score: 1,802
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.76
    Marker Score: 1,734
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 581
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.75
    Marker Score: 1,416
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 294
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.73
    Marker Score: 360
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.73
    Marker Score: 8,460
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 376
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.73
    Marker Score: 505
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.72
    Marker Score: 1,162
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.72
    Marker Score: 480
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2,858
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.68
    Marker Score: 337
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 610
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.67
    Marker Score: 1,641
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.65
    Marker Score: 2,041
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.65
    Marker Score: 1,540
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.65
    Marker Score: 456
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.65
    Marker Score: 208
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.64
    Marker Score: 354
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.63
    Marker Score: 179
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.62
    Marker Score: 5,312
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.62
    Marker Score: 2,374
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.61
    Marker Score: 1,085
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.61
    Marker Score: 176
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 395
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.59
    Marker Score: 3,606
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.59
    Marker Score: 595
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.58
    Marker Score: 373
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.58
    Marker Score: 1,177
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.58
    Marker Score: 364
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.57
    Marker Score: 1,541
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.57
    Marker Score: 3,439
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.57
    Marker Score: 687
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.56
    Marker Score: 268
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.56
    Marker Score: 261
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.56
    Marker Score: 306
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.55
    Marker Score: 3,512
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.54
    Marker Score: 1,422
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.54
    Marker Score: 453
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.54
    Marker Score: 484
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.54
    Marker Score: 921
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.54
    Marker Score: 561
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.54
    Marker Score: 220
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.54
    Marker Score: 791
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 427
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.53
    Marker Score: 768
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.53
    Marker Score: 147
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.53
    Marker Score: 726
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.53
    Marker Score: 837
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.53
    Marker Score: 212
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.52
    Marker Score: 259
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.52
    Marker Score: 562
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.52
    Marker Score: 379
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.52
    Marker Score: 3,364
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.52
    Marker Score: 121
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.52
    Marker Score: 294
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.51
    Marker Score: 131
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.51
    Marker Score: 161
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.51
    Marker Score: 224
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.51
    Marker Score: 191
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.51
    Marker Score: 192
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.51
    Marker Score: 126
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.51
    Marker Score: 5,741
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.51
    Marker Score: 565
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.5
    Marker Score: 110
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.5
    Marker Score: 455
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.5
    Marker Score: 255
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 130
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.49
    Marker Score: 27,416
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.49
    Marker Score: 118
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.48
    Marker Score: 120
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.48
    Marker Score: 482

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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: Mannose-1-phosphate guanyltransferase alpha

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 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 3 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 4 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 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: 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.