Details for: PMM1

Gene ID: 5372

Symbol: PMM1

Ensembl ID: ENSG00000100417

Description: phosphomannomutase 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: 123.6296
    Cell Significance Index: -19.2300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 102.6638
    Cell Significance Index: -26.0400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 56.5107
    Cell Significance Index: -26.6800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 55.6298
    Cell Significance Index: -22.6000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 50.6624
    Cell Significance Index: -26.0600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 39.9540
    Cell Significance Index: -26.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.7970
    Cell Significance Index: -22.7200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.9821
    Cell Significance Index: -25.8700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.6119
    Cell Significance Index: -23.0700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.7016
    Cell Significance Index: -26.4500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.9814
    Cell Significance Index: -15.3000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.8998
    Cell Significance Index: -8.5400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 2.7638
    Cell Significance Index: 23.2200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 2.1232
    Cell Significance Index: 230.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.1046
    Cell Significance Index: 126.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.7230
    Cell Significance Index: 200.8000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.5143
    Cell Significance Index: 22.6900
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.2066
    Cell Significance Index: 7.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.1741
    Cell Significance Index: 53.2200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.0761
    Cell Significance Index: 31.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9482
    Cell Significance Index: 130.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9098
    Cell Significance Index: 62.9200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.7321
    Cell Significance Index: 5.8500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.6956
    Cell Significance Index: 14.5600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6348
    Cell Significance Index: 346.6600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6331
    Cell Significance Index: 16.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5950
    Cell Significance Index: 27.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5538
    Cell Significance Index: 105.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5529
    Cell Significance Index: 109.7200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5203
    Cell Significance Index: 15.2800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3811
    Cell Significance Index: 10.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3550
    Cell Significance Index: 18.6400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3503
    Cell Significance Index: 34.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3425
    Cell Significance Index: 43.9100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3375
    Cell Significance Index: 21.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3237
    Cell Significance Index: 11.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3234
    Cell Significance Index: 58.2900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3118
    Cell Significance Index: 137.8600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2773
    Cell Significance Index: 55.6200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2750
    Cell Significance Index: 19.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2641
    Cell Significance Index: 31.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2097
    Cell Significance Index: 25.7800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1975
    Cell Significance Index: 10.2600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1886
    Cell Significance Index: 130.4300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1831
    Cell Significance Index: 4.8900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1550
    Cell Significance Index: 1.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1463
    Cell Significance Index: 23.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1399
    Cell Significance Index: 2.9800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1333
    Cell Significance Index: 4.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1260
    Cell Significance Index: 3.5200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0941
    Cell Significance Index: 1.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0901
    Cell Significance Index: 32.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0846
    Cell Significance Index: 62.0000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0836
    Cell Significance Index: 0.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0427
    Cell Significance Index: 32.3400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0341
    Cell Significance Index: 1.1900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0293
    Cell Significance Index: 2.1800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0003
    Cell Significance Index: 0.6200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0034
    Cell Significance Index: -5.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0045
    Cell Significance Index: -0.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0048
    Cell Significance Index: -8.9200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0093
    Cell Significance Index: -12.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0170
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0192
    Cell Significance Index: -3.2800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0217
    Cell Significance Index: -2.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0248
    Cell Significance Index: -15.7200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0268
    Cell Significance Index: -1.6500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0286
    Cell Significance Index: -21.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0430
    Cell Significance Index: -24.2300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0432
    Cell Significance Index: -19.5900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0501
    Cell Significance Index: -31.2600
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.0579
    Cell Significance Index: -0.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0739
    Cell Significance Index: -21.2600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0768
    Cell Significance Index: -0.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0823
    Cell Significance Index: -3.8700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0885
    Cell Significance Index: -7.0100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1271
    Cell Significance Index: -18.4800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1353
    Cell Significance Index: -15.5000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1481
    Cell Significance Index: -31.2000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1566
    Cell Significance Index: -4.4900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1787
    Cell Significance Index: -4.8700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1938
    Cell Significance Index: -13.0300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2019
    Cell Significance Index: -15.4900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2082
    Cell Significance Index: -13.4300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2092
    Cell Significance Index: -5.2300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2200
    Cell Significance Index: -11.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2283
    Cell Significance Index: -10.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2480
    Cell Significance Index: -25.8200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2628
    Cell Significance Index: -2.7200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2735
    Cell Significance Index: -3.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2757
    Cell Significance Index: -10.4400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3356
    Cell Significance Index: -7.2700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3682
    Cell Significance Index: -6.3100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3725
    Cell Significance Index: -5.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3728
    Cell Significance Index: -20.9200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4075
    Cell Significance Index: -10.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4176
    Cell Significance Index: -12.3000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4233
    Cell Significance Index: -25.9500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4288
    Cell Significance Index: -9.1700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.4930
    Cell Significance Index: -7.0700

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:** PMM1 is a bifunctional enzyme that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, a critical step in the biosynthesis of N-linked glycan precursors. This enzyme is highly specific, with a high affinity for mannose-6-phosphate and a low affinity for other sugars. PMM1 is also a metal-dependent enzyme, requiring zinc ions for its catalytic activity. **Pathways and Functions:** PMM1 is involved in several key glycosylation pathways, including: 1. **Asparagine N-linked glycosylation**: PMM1 catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, which is then used to synthesize N-linked glycan precursors. 2. **Biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, LLO)**: PMM1 is essential for the formation of LLO, which serves as a scaffold for the assembly of N-linked glycan precursors. 3. **GDP-mannose biosynthetic process**: PMM1 is involved in the synthesis of GDP-mannose, a sugar nucleotide required for glycosylation reactions. 4. **Mannose metabolic process**: PMM1 plays a role in the regulation of mannose metabolism, influencing the availability of mannose for glycosylation reactions. In addition to its role in glycosylation, PMM1 has been implicated in various cellular processes, including: 1. **Cellular response to leukemia inhibitory factor**: PMM1 has been shown to regulate the cellular response to leukemia inhibitory factor (LIF), a cytokine involved in immune cell development and function. 2. **Protein binding**: PMM1 interacts with various proteins, including chaperones and glycosylation enzymes, to regulate protein modification and cell signaling. **Significantly Expressed Cells:** PMM1 is highly expressed in various cell types, including: 1. **Type II pneumocyte**: PMM1 is essential for the proper functioning of type II pneumocytes, which are involved in lung repair and regeneration. 2. **Germ cell**: PMM1 plays a role in the development and function of germ cells, which are responsible for gamete production. 3. **Epithelial cell of esophagus**: PMM1 is expressed in epithelial cells of the esophagus, where it regulates the synthesis of glycoproteins involved in cell signaling and adhesion. 4. **Enterocyte**: PMM1 is essential for the functioning of enterocytes, which are involved in nutrient absorption and immune function. 5. **Kidney loop of Henle thick ascending limb epithelial cell**: PMM1 regulates the synthesis of glycoproteins involved in ion transport and cell signaling in the kidney. **Clinical Significance:** Dysregulation of PMM1 has been implicated in various diseases, including: 1. **Cystic fibrosis**: Mutations in PMM1 have been associated with cystic fibrosis, a genetic disorder characterized by abnormal glycosylation of proteins. 2. **Diabetes**: PMM1 has been shown to play a role in the regulation of glycosylation reactions involved in glucose metabolism. 3. **Neurological disorders**: PMM1 has been implicated in the regulation of glycosylation reactions involved in neurodegenerative diseases, such as Alzheimer's disease. In conclusion, PMM1 is a crucial enzyme involved in glycosylation pathways and immune function. Its dysregulation has been implicated in various diseases, highlighting the importance of this enzyme in maintaining proper cellular function. Further research is needed to elucidate the mechanisms by which PMM1 regulates glycosylation reactions and its clinical significance in human disease.

Genular Protein ID: 2935892985

Symbol: PMM1_HUMAN

Name: PMMH-22

UniProtKB Accession Codes:

Q92871 A8K003 Q92586

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 16 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 1 SABIO-RK 1 SFLD 2 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: 9070917

Title: PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.

PubMed ID: 9070917

DOI: 10.1006/geno.1996.4536

PubMed ID: 9119384

Title: Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.

PubMed ID: 9119384

DOI: 10.1006/geno.1996.4487

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 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: 16540464

Title: The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.

PubMed ID: 16540464

DOI: 10.1074/jbc.m601505200

PubMed ID: 29695157

Title: Structural basis of the molecular switch between phosphatase and mutase functions of human phosphomannomutase 1 under ischemic conditions.

PubMed ID: 29695157

DOI: 10.1021/acs.biochem.8b00223

Sequence Information:

  • Length: 262
  • Mass: 29747
  • Checksum: 1FBA7BFC9C3BB0BB
  • Sequence:
    • MAVTAQAARR KERVLCLFDV DGTLTPARQK IDPEVAAFLQ KLRSRVQIGV VGGSDYCKIA 
EQLGDGDEVI EKFDYVFAEN GTVQYKHGRL LSKQTIQNHL GEELLQDLIN FCLSYMALLR 
LPKKRGTFIE FRNGMLNISP IGRSCTLEER IEFSELDKKE KIREKFVEAL KTEFAGKGLR 
FSRGGMISFD VFPEGWDKRY CLDSLDQDSF DTIHFFGNET SPGGNDFEIF ADPRTVGHSV 
VSPQDTVQRC REIFFPETAH EA

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.