Details for: PGM1

Gene ID: 5236

Symbol: PGM1

Ensembl ID: ENSG00000079739

Description: phosphoglucomutase 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: 185.4766
    Cell Significance Index: -28.8500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 96.9077
    Cell Significance Index: -24.5800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 65.0890
    Cell Significance Index: -30.7300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 63.4327
    Cell Significance Index: -25.7700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 59.2844
    Cell Significance Index: -30.5000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 27.3686
    Cell Significance Index: -26.1300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 23.4802
    Cell Significance Index: -28.9500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.3099
    Cell Significance Index: -24.9400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.3922
    Cell Significance Index: -29.1700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.9804
    Cell Significance Index: -21.4400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.1997
    Cell Significance Index: -11.3800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.5286
    Cell Significance Index: 40.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.2592
    Cell Significance Index: 367.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.2034
    Cell Significance Index: 132.2800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.0490
    Cell Significance Index: 34.5200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.0380
    Cell Significance Index: 53.5900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.7763
    Cell Significance Index: 43.3400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.6972
    Cell Significance Index: 1532.4600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.5497
    Cell Significance Index: 39.8400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.4908
    Cell Significance Index: 114.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.4769
    Cell Significance Index: 20.1500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.3695
    Cell Significance Index: 36.7000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1412
    Cell Significance Index: 226.4700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.0812
    Cell Significance Index: 28.8700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.0534
    Cell Significance Index: 13.4900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.0334
    Cell Significance Index: 21.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.8388
    Cell Significance Index: 143.2300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6695
    Cell Significance Index: 18.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6393
    Cell Significance Index: 13.8500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6285
    Cell Significance Index: 28.4900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5889
    Cell Significance Index: 118.1300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5807
    Cell Significance Index: 41.0700
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.5633
    Cell Significance Index: 3.5000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.5563
    Cell Significance Index: 11.8900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4940
    Cell Significance Index: 269.7600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4499
    Cell Significance Index: 23.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4473
    Cell Significance Index: 160.4400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4460
    Cell Significance Index: 11.1500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.4396
    Cell Significance Index: 6.4900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4125
    Cell Significance Index: 182.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4115
    Cell Significance Index: 56.5100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3932
    Cell Significance Index: 11.3300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3498
    Cell Significance Index: 9.5200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3236
    Cell Significance Index: 15.0900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2801
    Cell Significance Index: 193.7400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2727
    Cell Significance Index: 33.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2491
    Cell Significance Index: 32.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2391
    Cell Significance Index: 43.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2243
    Cell Significance Index: 10.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2017
    Cell Significance Index: 6.4600
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.1827
    Cell Significance Index: 2.3000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1337
    Cell Significance Index: 17.1400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1162
    Cell Significance Index: 22.1200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0963
    Cell Significance Index: 2.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0548
    Cell Significance Index: 84.3200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0541
    Cell Significance Index: 99.7800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0507
    Cell Significance Index: 5.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0466
    Cell Significance Index: 29.6100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0401
    Cell Significance Index: 75.5700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0288
    Cell Significance Index: 21.8300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0249
    Cell Significance Index: 11.3200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0245
    Cell Significance Index: 0.4200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0204
    Cell Significance Index: 14.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0201
    Cell Significance Index: 27.2900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0185
    Cell Significance Index: 2.1800
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.0092
    Cell Significance Index: 0.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0057
    Cell Significance Index: 0.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0057
    Cell Significance Index: 0.3000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0041
    Cell Significance Index: -0.6000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0048
    Cell Significance Index: -3.5900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0078
    Cell Significance Index: -4.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0206
    Cell Significance Index: -0.3500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0295
    Cell Significance Index: -16.6500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0354
    Cell Significance Index: -3.6200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0621
    Cell Significance Index: -4.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0719
    Cell Significance Index: -15.1400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0827
    Cell Significance Index: -4.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0835
    Cell Significance Index: -24.0300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0841
    Cell Significance Index: -2.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1102
    Cell Significance Index: -12.6200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1144
    Cell Significance Index: -7.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1187
    Cell Significance Index: -7.4800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1247
    Cell Significance Index: -1.8400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1370
    Cell Significance Index: -15.9600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1634
    Cell Significance Index: -18.6500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1786
    Cell Significance Index: -5.2500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2284
    Cell Significance Index: -18.0900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2308
    Cell Significance Index: -15.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2324
    Cell Significance Index: -10.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2497
    Cell Significance Index: -26.0000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2686
    Cell Significance Index: -13.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2900
    Cell Significance Index: -17.7800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3060
    Cell Significance Index: -18.8100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3096
    Cell Significance Index: -7.9100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3311
    Cell Significance Index: -4.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3630
    Cell Significance Index: -12.6200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3677
    Cell Significance Index: -5.5100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3689
    Cell Significance Index: -13.9700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.4020
    Cell Significance Index: -4.3700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5070
    Cell Significance Index: -10.7600

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:** 1. **Enzymatic Activity:** PGM1 is a phosphohydrolase enzyme that catalyzes the conversion of glucose-1-phosphate to glucose-6-phosphate, and vice versa. 2. **Subcellular Localization:** The enzyme is primarily found in the cytosol, with some localization to the extracellular exosome and tertiary granule lumen. 3. **Tissue Expression:** PGM1 is widely expressed in various tissues, including cardiac myocytes, skeletal muscle fibers, epithelial cells, and hepatocytes. 4. **Isoform Variability:** PGM1 exists in multiple isoforms, which may confer distinct functional properties and tissue specificity. 5. **Regulation:** The enzyme's activity is regulated by various factors, including pH, temperature, and substrate availability. **Pathways and Functions:** 1. **Glycolytic Pathway:** PGM1 plays a critical role in regulating the glycolytic pathway by converting glucose-1-phosphate to glucose-6-phosphate, which is then used for energy production. 2. **Glycogen Metabolism:** The enzyme is involved in the regulation of glycogen synthesis and breakdown, ensuring proper glycogen storage and release. 3. **Glucose Metabolism:** PGM1 contributes to glucose homeostasis by regulating glucose uptake and utilization in various tissues. 4. **Immune System:** The enzyme has been implicated in immune system function, particularly in the regulation of neutrophil degranulation and the production of ficolin-1. 5. **Cell Signaling:** PGM1 may modulate cell signaling pathways, influencing cellular responses to various stimuli. **Clinical Significance:** 1. **PGM1-CDG:** Deficiencies in PGM1 have been associated with Congenital Dysmyelination with Progressive Motor Distalization (CDG-PL), a rare genetic disorder characterized by progressive muscle weakness and degeneration. 2. **Glycosylation Disorders:** PGM1 mutations have been linked to various glycosylation disorders, including congenital agammaglobulinemia and immunodeficiency. 3. **Metabolic Disorders:** The enzyme's role in glucose and glycogen metabolism makes it a potential target for the treatment of metabolic disorders, such as glycogen storage diseases. 4. **Cardiovascular Disease:** PGM1 has been implicated in the pathogenesis of cardiovascular disease, particularly in the regulation of cardiac glycolysis and energy metabolism. 5. **Cancer Research:** The enzyme's involvement in immune system function and cell signaling pathways makes it a potential target for cancer research and therapy. In conclusion, PGM1 is a vital enzyme with a wide range of cellular functions, from regulating glycolytic and glycogen metabolic pathways to modulating immune system responses. Its dysregulation has been implicated in various diseases, highlighting the need for further research into the enzyme's mechanisms and potential therapeutic applications.

Genular Protein ID: 2879835140

Symbol: PGM1_HUMAN

Name: Phosphoglucomutase-1

UniProtKB Accession Codes:

P36871 B2R5N9 B4DPV0 Q16105 Q16106 Q5BKZ9 Q6NW22 Q86U74 Q96J40 Q9NTY4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CPTAC 3 CTD 1 ChEBI 23 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 3 EC 1 EMBL 11 Ensembl 3 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 16 PDBsum 16 PIR 2 PRIDE 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 5 RefSeq 3 Rhea 7 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1530890

Title: Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1.

PubMed ID: 1530890

DOI: 10.1073/pnas.89.1.411

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 8257433

Title: Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon.

PubMed ID: 8257433

DOI: 10.1042/bj2960417

PubMed ID: 15378030

Title: Regulation of phosphoglucomutase 1 phosphorylation and activity by a signaling kinase.

PubMed ID: 15378030

DOI: 10.1038/sj.onc.1207969

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17924679

Title: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.

PubMed ID: 17924679

DOI: 10.1021/pr070152u

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

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: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 26972339

Title: Induced structural disorder as a molecular mechanism for enzyme dysfunction in phosphoglucomutase 1 deficiency.

PubMed ID: 26972339

DOI: 10.1016/j.jmb.2016.02.032

PubMed ID: 7902567

Title: Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled.

PubMed ID: 7902567

DOI: 10.1073/pnas.90.22.10725

PubMed ID: 7902568

Title: The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.

PubMed ID: 7902568

DOI: 10.1073/pnas.90.22.10730

PubMed ID: 19625727

Title: Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

PubMed ID: 19625727

DOI: 10.1056/nejmc0901158

PubMed ID: 22492991

Title: Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

PubMed ID: 22492991

DOI: 10.1093/hmg/dds123

PubMed ID: 22976764

Title: A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.

PubMed ID: 22976764

DOI: 10.1007/s10545-012-9525-7

PubMed ID: 24499211

Title: Multiple phenotypes in phosphoglucomutase 1 deficiency.

PubMed ID: 24499211

DOI: 10.1056/nejmoa1206605

PubMed ID: 25288802

Title: Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.

PubMed ID: 25288802

DOI: 10.1074/jbc.m114.597914

Sequence Information:

  • Length: 562
  • Mass: 61449
  • Checksum: 61A26C19107D467A
  • Sequence:
    • MVKIVTVKTQ AYQDQKPGTS GLRKRVKVFQ SSANYAENFI QSIISTVEPA QRQEATLVVG 
GDGRFYMKEA IQLIARIAAA NGIGRLVIGQ NGILSTPAVS CIIRKIKAIG GIILTASHNP 
GGPNGDFGIK FNISNGGPAP EAITDKIFQI SKTIEEYAVC PDLKVDLGVL GKQQFDLENK 
FKPFTVEIVD SVEAYATMLR SIFDFSALKE LLSGPNRLKI RIDAMHGVVG PYVKKILCEE 
LGAPANSAVN CVPLEDFGGH HPDPNLTYAA DLVETMKSGE HDFGAAFDGD GDRNMILGKH 
GFFVNPSDSV AVIAANIFSI PYFQQTGVRG FARSMPTSGA LDRVASATKI ALYETPTGWK 
FFGNLMDASK LSLCGEESFG TGSDHIREKD GLWAVLAWLS ILATRKQSVE DILKDHWQKY 
GRNFFTRYDY EEVEAEGANK MMKDLEALMF DRSFVGKQFS ANDKVYTVEK ADNFEYSDPV 
DGSISRNQGL RLIFTDGSRI VFRLSGTGSA GATIRLYIDS YEKDVAKINQ DPQVMLAPLI 
SIALKVSQLQ ERTGRTAPTV IT

Genular Protein ID: 3473471788

Symbol: B7Z6C2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z6C2

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 Gene3D 2 InterPro 8 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 RefSeq 1 RuleBase 1 SUPFAM 2

Sequence Information:

  • Length: 580
  • Mass: 63751
  • Checksum: CB288911B786EF4B
  • Sequence:
    • MSDFEEWISG TYRKMEEGPL PLLTFATAPY HDQKPGTSGL RKKTYYFEEK PCYLENFIQS 
IFFSIDLKDR QGSSLVVGGD GRYFNKSAIE TIVQMAAANG IGRLVIGQNG ILSTPAVSCI 
IRKIKAIGGI ILTASHNPGG PNGDFGIKFN ISNGGPAPEA ITDKIFQISK TIEEYAVCPD 
LKVDLGVLGK QQFDLENKFK PFTVEIVDSV EAYATMLRSI FDFSALKELL SGPNRLKIRI 
DAMHGVVGPY VKKILCEELG APANSAVNCV PLEDFGGHHP DPNLTYAADL VETMKSGEHD 
FGAAFDGDGD RNMILGKHGF FVNPSDSVAV IAANIFSIPY FQQTGVRGFA RSMPTSGALD 
RVASATKIAL YETPTGWKFF GNLMDASKLS LCGEESFGTG SDHVREKDGL WAVLAWLSIL 
ATRKQSVEDI LKDHWQKHGR NFFTRYDYEE VEAEGANKMM KDLEALMFDR SFVGKQFSAN 
DKVYTVEKAD NFEYSDPVDG SISRNQGLRL IFTDGSRIVF RLSGTGSAGA TIRLYIDSYE 
KDVAKINQDP QVMLAPLISI ALKVSQLQER TGRTAPTVIT

Genular Protein ID: 1350177900

Symbol: B4DDQ8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DDQ8

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 2 GO 2 Gene3D 2 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 1 SUPFAM 2

Sequence Information:

  • Length: 365
  • Mass: 40230
  • Checksum: 51772F8499A0C7D5
  • Sequence:
    • MLRSIFDFSA LKELLSGPNR LKICIDAMHG VVGPYVKKIL CEELGAPANS AVNCVPLEDF 
GGHHPDPNLT YAADLVETMK SGEHDFGAAF DGDGDRNMIL GKHGFFVNPS DSVAVIAANI 
FSIPYFQQTG VRGFARSMPT SGALDRVASA TKIALYETPT GWKFFGNLMD ASKLSLCGEE 
SFGTGSDHIR EKDGLWAVLA WLSILATRKQ SVEDILKDHW QKYGRNFFTR YDYEEVEAEG 
ANKMMKDLEA LMFDRSFVGK QFSANDKVYT VEKADNFEYS DPVDGSISRN QGLRLIFTDG 
SRIVFRLSGT GSAGATIRLY IDSYEKDVAK INQDPQVMLA PLISIALKVS QLQERTGRTA 
PTVIT

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.