Details for: GMPPB

Gene ID: 29925

Symbol: GMPPB

Ensembl ID: ENSG00000173540

Description: GDP-mannose pyrophosphorylase B

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: 70.3332
    Cell Significance Index: -10.9400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 48.6510
    Cell Significance Index: -12.3400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 27.4703
    Cell Significance Index: -11.1600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 27.1328
    Cell Significance Index: -12.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.7519
    Cell Significance Index: -11.2200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.1626
    Cell Significance Index: -12.5300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.8136
    Cell Significance Index: -12.9000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 4.7073
    Cell Significance Index: 77.5700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.2488
    Cell Significance Index: -12.8200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.2395
    Cell Significance Index: -9.9500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.3276
    Cell Significance Index: 61.9000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2714
    Cell Significance Index: 76.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.9509
    Cell Significance Index: 70.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8924
    Cell Significance Index: 145.1400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8669
    Cell Significance Index: 23.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6992
    Cell Significance Index: 36.3200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6054
    Cell Significance Index: 5.5800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5125
    Cell Significance Index: 11.8400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5083
    Cell Significance Index: 50.2800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4636
    Cell Significance Index: 32.0600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4220
    Cell Significance Index: 54.5200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.4022
    Cell Significance Index: 18.9100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3653
    Cell Significance Index: 65.8500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3430
    Cell Significance Index: 187.3400
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.3299
    Cell Significance Index: 2.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3260
    Cell Significance Index: 14.7800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3157
    Cell Significance Index: 8.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2381
    Cell Significance Index: 29.2800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2333
    Cell Significance Index: 6.2300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2061
    Cell Significance Index: 5.7600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1849
    Cell Significance Index: 35.1900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1786
    Cell Significance Index: 24.5200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1769
    Cell Significance Index: 5.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1756
    Cell Significance Index: 6.1700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1599
    Cell Significance Index: 18.8600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1515
    Cell Significance Index: 2.2700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1259
    Cell Significance Index: 21.4900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0889
    Cell Significance Index: 1.0100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0817
    Cell Significance Index: 36.1400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0799
    Cell Significance Index: 5.6500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0699
    Cell Significance Index: 2.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0652
    Cell Significance Index: 49.3400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.0643
    Cell Significance Index: 0.6700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0629
    Cell Significance Index: 4.0600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0526
    Cell Significance Index: 1.1000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.0391
    Cell Significance Index: 1.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0343
    Cell Significance Index: 6.8000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0339
    Cell Significance Index: 4.3500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0197
    Cell Significance Index: 0.4200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0191
    Cell Significance Index: 6.8500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0179
    Cell Significance Index: 16.1300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0115
    Cell Significance Index: 0.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0070
    Cell Significance Index: 1.4000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0015
    Cell Significance Index: -2.8200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0059
    Cell Significance Index: -4.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0063
    Cell Significance Index: -11.6600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0076
    Cell Significance Index: -5.5500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0084
    Cell Significance Index: -12.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0108
    Cell Significance Index: -6.8800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0112
    Cell Significance Index: -15.2000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0132
    Cell Significance Index: -9.7500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0147
    Cell Significance Index: -8.2900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0179
    Cell Significance Index: -1.1300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0203
    Cell Significance Index: -2.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0241
    Cell Significance Index: -10.9500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0277
    Cell Significance Index: -17.3100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0391
    Cell Significance Index: -4.4800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0443
    Cell Significance Index: -12.7500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0458
    Cell Significance Index: -0.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0489
    Cell Significance Index: -1.7000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0552
    Cell Significance Index: -0.4500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0649
    Cell Significance Index: -7.5600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0662
    Cell Significance Index: -13.9400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0667
    Cell Significance Index: -9.7000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0758
    Cell Significance Index: -3.9500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1002
    Cell Significance Index: -3.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1055
    Cell Significance Index: -5.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1137
    Cell Significance Index: -2.9900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1171
    Cell Significance Index: -8.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1200
    Cell Significance Index: -12.5000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1272
    Cell Significance Index: -3.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1290
    Cell Significance Index: -1.7600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1293
    Cell Significance Index: -7.9300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1417
    Cell Significance Index: -11.2200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.1426
    Cell Significance Index: -0.9300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1621
    Cell Significance Index: -10.9000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1843
    Cell Significance Index: -4.9300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1956
    Cell Significance Index: -12.0200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2112
    Cell Significance Index: -11.8500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2228
    Cell Significance Index: -3.1900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2229
    Cell Significance Index: -4.1200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2243
    Cell Significance Index: -4.8600
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2269
    Cell Significance Index: -3.1800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2589
    Cell Significance Index: -11.4500
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.2705
    Cell Significance Index: -2.7900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2738
    Cell Significance Index: -5.6800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2763
    Cell Significance Index: -13.9600
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.2767
    Cell Significance Index: -5.7700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2917
    Cell Significance Index: -11.9500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3010
    Cell Significance Index: -11.0500

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:** 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: GDP-mannose pyrophosphorylase B

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 10 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 EMDB 3 Ensembl 3 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 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 2 Rhea 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 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: 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: 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: 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: 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.