Details for: GMPPB

Gene ID: 29925

Symbol: GMPPB

Ensembl ID: ENSG00000173540

Description: GDP-mannose pyrophosphorylase B

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: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.45
    Marker Score: 5,068
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 1.38
    Marker Score: 1,175
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.17
    Marker Score: 2,661
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.15
    Marker Score: 1,852
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.13
    Marker Score: 559
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.13
    Marker Score: 9,784
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.12
    Marker Score: 4,314
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.1
    Marker Score: 1,918
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 1.07
    Marker Score: 1,046
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 1.06
    Marker Score: 370
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,747
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,971
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.99
    Marker Score: 1,884
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,400
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.98
    Marker Score: 8,444
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.97
    Marker Score: 1,284
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.96
    Marker Score: 421
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.95
    Marker Score: 2,011
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,402
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.94
    Marker Score: 2,213
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.94
    Marker Score: 3,222
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,252
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.91
    Marker Score: 14,243
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,713
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.89
    Marker Score: 445
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.88
    Marker Score: 223
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,249
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.86
    Marker Score: 5,505
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.82
    Marker Score: 3,539
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8
    Marker Score: 1,181
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.8
    Marker Score: 249
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.79
    Marker Score: 761
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.79
    Marker Score: 1,502
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.78
    Marker Score: 1,384
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.78
    Marker Score: 247
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.77
    Marker Score: 517
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,250
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.76
    Marker Score: 246
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.76
    Marker Score: 2,998
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.76
    Marker Score: 1,862
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.73
    Marker Score: 341
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.72
    Marker Score: 303
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 551
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 658
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.72
    Marker Score: 418
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.72
    Marker Score: 2,253
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.71
    Marker Score: 206
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.71
    Marker Score: 1,618
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 283
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.69
    Marker Score: 4,512
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.69
    Marker Score: 353
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.68
    Marker Score: 570
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2,858
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.67
    Marker Score: 250
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 169
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.64
    Marker Score: 257
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.63
    Marker Score: 447
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.62
    Marker Score: 1,255
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.61
    Marker Score: 763
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.61
    Marker Score: 384
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.61
    Marker Score: 20,961
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.59
    Marker Score: 4,608
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.59
    Marker Score: 1,593
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.58
    Marker Score: 349
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.56
    Marker Score: 140
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.56
    Marker Score: 140
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.56
    Marker Score: 307
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.55
    Marker Score: 1,452
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.55
    Marker Score: 3,290
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.54
    Marker Score: 260
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.54
    Marker Score: 157
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.53
    Marker Score: 3,220
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.53
    Marker Score: 119
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.53
    Marker Score: 838
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.52
    Marker Score: 137
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.52
    Marker Score: 216
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.5
    Marker Score: 447
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.5
    Marker Score: 188
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.5
    Marker Score: 362
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.5
    Marker Score: 328
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.49
    Marker Score: 710
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.49
    Marker Score: 139
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.49
    Marker Score: 5,514
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.48
    Marker Score: 541
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.48
    Marker Score: 275
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.48
    Marker Score: 125
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.48
    Marker Score: 1,322
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.48
    Marker Score: 126
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.47
    Marker Score: 291
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.47
    Marker Score: 116
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.47
    Marker Score: 344
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.46
    Marker Score: 165
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.46
    Marker Score: 193
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.46
    Marker Score: 483
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.46
    Marker Score: 359

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:** GMPPB is a pyrophosphorylase enzyme that belongs to the family of nucleotide pyrophosphatases/phosphotransferases. It is a bifunctional enzyme, possessing both GDP-mannose pyrophosphorylase and guanylyltransferase activities. The enzyme is characterized by its high specificity for GDP-mannose, converting it to GDP-1-phosphate through a pyrophosphorylase reaction. This reaction is essential for the synthesis of N-linked glycosylation precursors, which are subsequently transferred to nascent proteins. **Pathways and Functions:** GMPPB plays a pivotal role in the biosynthesis of N-linked glycosylation precursors, which are essential for the formation of complex glycoproteins and glycolipids. The enzyme is involved in the following pathways: 1. **Asparagine N-linked glycosylation**: GMPPB catalyzes the conversion of GDP-mannose to GDP-1-phosphate, which is then used to synthesize the N-linked glycosylation precursor, dolichol lipid-linked oligosaccharide (LLO). 2. **Biosynthesis of the N-glycan precursor**: GMPPB is essential for the synthesis of LLO, which is the precursor for N-linked glycosylation. 3. **Transfer to a nascent protein**: GMPPB facilitates the transfer of the N-linked glycosylation precursor to nascent proteins, enabling the formation of complex glycoproteins. 4. **GDP-mannose biosynthetic process**: GMPPB is involved in the synthesis of GDP-mannose, which is a critical substrate for the enzyme. **Clinical Significance:** Dysregulation of GMPPB has been implicated in various human diseases, including: 1. **Glycosylation disorders**: GMPPB deficiency can lead to impaired N-linked glycosylation, resulting in the production of aberrant glycoproteins and glycolipids. 2. **Cancer**: Altered expression of GMPPB has been observed in various types of cancer, including lung, breast, and colon cancer. 3. **Neurological disorders**: GMPPB has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 4. **Immunological disorders**: GMPPB is essential for the proper functioning of the immune system, and its dysregulation can lead to impaired immune responses. In conclusion, GMPPB is a crucial enzyme involved in the biosynthesis of glycoproteins and glycolipids. Its dysregulation has been implicated in various human diseases, highlighting the importance of this enzyme in maintaining cellular homeostasis. Further research is necessary to fully elucidate the role of GMPPB in human disease and to develop therapeutic strategies for the treatment of glycosylation-related disorders.

Genular Protein ID: 2999291205

Symbol: GMPPB_HUMAN

Name: Mannose-1-phosphate guanyltransferase beta

UniProtKB Accession Codes:

Q9Y5P6 A8K6N5 Q9H7U3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 EMDB 3 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 5 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 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 2 Rhea 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 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: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23768512

Title: Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.

PubMed ID: 23768512

DOI: 10.1016/j.ajhg.2013.05.009

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26310427

Title: GMPPB-associated dystroglycanopathy: Emerging common variants with phenotype correlation.

PubMed ID: 26310427

DOI: 10.1002/humu.22898

PubMed ID: 28433477

Title: Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital syndrome.

PubMed ID: 28433477

DOI: 10.1016/j.nmd.2017.03.004

PubMed ID: 28478914

Title: Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

PubMed ID: 28478914

DOI: 10.1016/j.nmd.2017.04.006

Sequence Information:

  • Length: 360
  • Mass: 39834
  • Checksum: 8212C77BBB2EF960
  • Sequence:
    • MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI LAVSYMSQVL 
EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET ADPFFVLNSD VICDFPFQAM 
VQFHRHHGQE GSILVTKVEE PSKYGVVVCE ADTGRIHRFV EKPQVFVSNK INAGMYILSP 
AVLQRIQLQP TSIEKEVFPI MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ 
PERLCSGPGI VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH 
SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG ESVPEPRIIM

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.