PYGL (glycogen phosphorylase L) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PYGL (glycogen phosphorylase L) Homo sapiens
Analyze
Symbol: PYGL
Name: glycogen phosphorylase L
RGD ID: 731803
HGNC Page HGNC:9725
Description: Enables several functions, including D-glucose binding activity; glycogen phosphorylase activity; and heterocyclic compound binding activity. Involved in glucose homeostasis and glycogen metabolic process. Located in extracellular exosome. Implicated in glycogen storage disease; glycogen storage disease VI; and lactic acidosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glycogen phosphorylase, liver form; GSD6; liver (Hers disease, glycogen storage disease type VI); liver glycogen phosphorylase; phosphorylase, glycogen; phosphorylase, glycogen, liver
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381450,905,217 - 50,944,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1450,857,891 - 50,944,483 (-)EnsemblGRCh38hg38GRCh38
GRCh371451,371,935 - 51,411,201 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361450,441,687 - 50,480,984 (-)NCBINCBI36Build 36hg18NCBI36
Build 341450,441,688 - 50,480,984NCBI
Celera1431,238,983 - 31,278,301 (-)NCBICelera
Cytogenetic Map14q22.1NCBI
HuRef1431,497,509 - 31,536,798 (-)NCBIHuRef
CHM1_11451,310,446 - 51,349,770 (-)NCBICHM1_1
T2T-CHM13v2.01445,111,656 - 45,150,908 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumanChemical and Drug Induced Liver Injury  IEP 21079733protein:increased expression:serum (rat)RGD 
PYGLHumanglycogen storage disease  IAGP 1599374 RGD 
PYGLHumanglycogen storage disease VI  IAGP 11071447DNA:mutation:multipleRGD 
PYGLHumanglycogen storage disease VI  IAGP 21079734DNA:SNPs more ...RGD 
PYGLHumanHepatomegaly  IAGP 21079734DNA:SNPs more ...RGD 
PYGLHumanHepatomegaly  IAGP 11071447associated with glycogen storage disease VI and DNA:mutation:multipleRGD 
PYGLHumanlactic acidosis  IAGP 11071447DNA:mutation:multipleRGD 
1 to 20 of 43 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
PYGLHumangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
PYGLHumangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:20301760 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:25070466 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:21646031 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:25741868
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:17705025 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:16199547 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:32892177 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVar 
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:17705025 and PMID:20301760
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:20301760 and PMID:9529348
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:17705025 and PMID:28492532
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:21646031 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Phosphorylase deficiency glycogen-storage disease of liverClinVarPMID:21646031 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:25070466 more ...
PYGLHumanglycogen storage disease VI  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glycogen storage disease and type VIClinVarPMID:28492532 more ...
1 to 20 of 43 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumanChemical and Drug Induced Liver Injury  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25231249
PYGLHumanglycogen storage disease VI  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:9529348 and PMID:9536091
PYGLHumanhepatocellular carcinoma  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:2885971
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumanglycogen storage disease VI  ISSPygl (Mus musculus)13592920OMIM:232700MouseDO 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumanglycogen storage disease VI  IAGP 7240710 OMIM 

1 to 20 of 203 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHuman(1->4)-beta-D-glucan multiple interactionsISOPygl (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of PYGL mRNACTDPMID:36331819
PYGLHuman1,1-dichloroethene decreases expressionISOPygl (Mus musculus)6480464vinylidene chloride results in decreased expression of PYGL mRNACTDPMID:26682919
PYGLHuman1,2-dichloroethane decreases expressionISOPygl (Mus musculus)6480464ethylene dichloride results in decreased expression of PYGL mRNA and ethylene dichloride results in decreased expression of PYGL proteinCTDPMID:28189721 and PMID:28960355
PYGLHuman1,2-dimethylhydrazine decreases expressionISOPygl (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of PYGL mRNACTDPMID:22206623
PYGLHuman1-chloro-2,4-dinitrobenzene affects bindingEXP 6480464Dinitrochlorobenzene binds to PYGL proteinCTDPMID:32991956
PYGLHuman1-naphthyl isothiocyanate decreases expressionISOPygl (Rattus norvegicus)64804641-Naphthylisothiocyanate results in decreased expression of PYGL mRNACTDPMID:17522070
PYGLHuman17alpha-ethynylestradiol multiple interactionsISOPygl (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PYGL mRNACTDPMID:17942748
PYGLHuman17alpha-ethynylestradiol increases expressionISOPygl (Rattus norvegicus)6480464Ethinyl Estradiol results in increased expression of PYGL mRNACTDPMID:17557909
PYGLHuman17beta-estradiol decreases expressionISOPygl (Mus musculus)6480464Estradiol results in decreased expression of PYGL mRNACTDPMID:19484750 and PMID:39298647
PYGLHuman17beta-estradiol multiple interactionsEXP 6480464[Estradiol co-treated with Norethindrone Acetate] results in increased expression of PYGL mRNACTDPMID:22217510
PYGLHuman17beta-estradiol multiple interactionsISOPygl (Rattus norvegicus)6480464[bisphenol A co-treated with Estradiol] results in increased expression of PYGL mRNACTDPMID:26496021
PYGLHuman1H-pyrazole decreases expressionISOPygl (Mus musculus)6480464pyrazole results in decreased expression of PYGL mRNACTDPMID:17945193
PYGLHuman2,3',4,4',5-Pentachlorobiphenyl increases expressionISOPygl (Mus musculus)64804642 more ...CTDPMID:31388691
PYGLHuman2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOPygl (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PYGL mRNACTDPMID:17942748
PYGLHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOPygl (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of PYGL mRNACTDPMID:19770486 and PMID:27562557
PYGLHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of PYGL mRNACTDPMID:22903824
PYGLHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOPygl (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of PYGL mRNACTDPMID:20959002 and PMID:21215274
PYGLHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISOPygl (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of PYGL mRNACTDPMID:21570461
PYGLHuman2,4-dibromophenyl 2,4,5-tribromophenyl ether affects expressionISOPygl (Mus musculus)64804642 more ...CTDPMID:38648751
PYGLHuman2,4-dinitrotoluene affects expressionISOPygl (Rattus norvegicus)64804642 and 4-dinitrotoluene affects the expression of PYGL mRNACTDPMID:21346803

1 to 20 of 203 rows

Biological Process
1 to 12 of 12 rows

  
1 to 12 of 12 rows

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumancytoplasm is_active_inIBAFB:FBgn0004507 more ...150520179 GO_CentralGO_REF:0000033
PYGLHumancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
PYGLHumancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-453339 more ...
PYGLHumancytosol located_inIEAUniProtKB-SubCell:SL-0091150520179 UniProtGO_REF:0000044
PYGLHumanextracellular exosome located_inHDA 150520179 PMID:23533145UniProtPMID:23533145
PYGLHumanextracellular region located_inTAS 150520179 ReactomeReactome:R-HSA-6798748 and Reactome:R-HSA-6800434
PYGLHumanficolin-1-rich granule lumen located_inTAS 150520179 ReactomeReactome:R-HSA-6800434
PYGLHumansecretory granule lumen located_inTAS 150520179 ReactomeReactome:R-HSA-6798748

Molecular Function
1 to 20 of 27 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHuman1,4-alpha-oligoglucan phosphorylase activity enablesIEAEC:2.4.1.1150520179 UniProtGO_REF:0000003
PYGLHuman1,4-alpha-oligoglucan phosphorylase activity enablesIEAInterPro:IPR011833150520179 InterProGO_REF:0000002
PYGLHuman1,4-alpha-oligoglucan phosphorylase activity enablesIEARHEA:41732150520179 RHEAGO_REF:0000116
PYGLHumanAMP binding enablesIDA 150520179 PMID:10949035 and PMID:10980448UniProtPMID:10949035 and PMID:10980448
PYGLHumanATP binding enablesIDA 150520179 PMID:10949035UniProtPMID:10949035
PYGLHumanbile acid binding enablesIDA 150520179 PMID:12204691UniProtPMID:12204691
PYGLHumancarbohydrate binding  ISOPygl (Rattus norvegicus)9068941 RGDPMID:15152027 more ...
PYGLHumancatalytic activity enablesIEAUniProtKB-KW:KW-0021150520179 UniProtGO_REF:0000043
PYGLHumanD-glucose binding enablesIDA 150520179 PMID:10980448 and PMID:12204691UniProtPMID:10980448 and PMID:12204691
PYGLHumanglycogen phosphorylase activity  ISOPygl (Rattus norvegicus)9068941 RGDPMID:114169 more ...
PYGLHumanglycogen phosphorylase activity enablesIEAUniProtKB:Q9ET01 and ensembl:ENSMUSP00000071231150520179 EnsemblGO_REF:0000107
PYGLHumanglycogen phosphorylase activity enablesIBACGD:CAL0000189831 more ...150520179 GO_CentralGO_REF:0000033
PYGLHumanglycogen phosphorylase activity enablesIEAARBA:ARBA00034206150520179 UniProtGO_REF:0000117
PYGLHumanglycogen phosphorylase activity enablesIDA 150520179 PMID:22225877MGIPMID:22225877
PYGLHumanglycogen phosphorylase activity enablesIMP 150520179 PMID:10980448 more ...UniProtPMID:10980448 more ...
PYGLHumanglycogen phosphorylase activity enablesIEAInterPro:IPR000811150520179 InterProGO_REF:0000002
PYGLHumanglycosyltransferase activity enablesIEAUniProtKB-KW:KW-0328150520179 UniProtGO_REF:0000043
PYGLHumanidentical protein binding  ISOPygl (Rattus norvegicus)9068941homodimerizationRGDPMID:1554349 and REF_RGD_ID:2304136
PYGLHumanidentical protein binding enablesIPIUniProtKB:P06737150520179 PMID:10980448UniProtPMID:10980448
PYGLHumannucleotide binding enablesIEAUniProtKB-KW:KW-0547150520179 UniProtGO_REF:0000043
1 to 20 of 27 rows

RGD Manual Annotations


  

Imported Annotations - SMPDB

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumancongenital sucrase-isomaltase deficiency pathway  EXP 10402751 SMPDBSMP:00557
PYGLHumanglycogen storage disease type III pathway  EXP 10402751 SMPDBSMP:00553
PYGLHumanglycogen storage disease type IV pathway  EXP 10402751 SMPDBSMP:00554
PYGLHumanglycogen storage disease type VI pathway  EXP 10402751 SMPDBSMP:00555
PYGLHumanstarch and sucrose metabolic pathway  EXP 10402751 SMPDBSMP:00058

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumaninsulin signaling pathway   IEA 6907045 KEGGhsa:04910
PYGLHumanstarch and sucrose metabolic pathway  IEA 6907045 KEGGhsa:00500
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumanElevated circulating alanine aminotransferase concentration  IAGP 21079734DNA:SNPs more ...RGD 
PYGLHumanElevated circulating aspartate aminotransferase concentration  IAGP 21079734DNA:SNPs more ...RGD 
PYGLHumanGrowth abnormality  IAGP 11071447DNA:mutation:multipleRGD 
PYGLHumanHepatomegaly  IAGP 11071447associated with glycogen storage disease VI and DNA:mutation:multipleRGD 
PYGLHumanHepatomegaly  IAGP 21079734DNA:SNPs more ...RGD 
PYGLHumanLactic acidosis  IAGP 11071447DNA:mutation:multipleRGD 
1 to 20 of 39 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PYGLHumanAbdominal distention  IAGP 8699517 HPOORPHA:369
PYGLHumanAbnormality of the kidney  IAGP 8699517 HPOORPHA:369
PYGLHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:232700
PYGLHumanCirrhosis  IAGP 8699517 HPOORPHA:369
PYGLHumanDelayed puberty  IAGP 8699517 HPOORPHA:369
PYGLHumanElevated circulating hepatic transaminase concentration  IAGP 8699517 HPOMIM:232700
PYGLHumanElevated circulating hepatic transaminase concentration  IAGP 8699517 HPOORPHA:369
PYGLHumanExercise-induced muscle cramps  IAGP 8699517 HPOORPHA:369
PYGLHumanFailure to thrive  IAGP 8699517 HPOORPHA:369
PYGLHumanFailure to thrive in infancy  IAGP 8699517 HPOMIM:232700
PYGLHumanGrowth delay  IAGP 8699517 HPOORPHA:369
PYGLHumanHepatic fibrosis  IAGP 8699517 HPOORPHA:369
PYGLHumanHepatocellular carcinoma  IAGP 8699517 HPOORPHA:369
PYGLHumanHepatomegaly  IAGP 8699517 HPOORPHA:369
PYGLHumanHepatomegaly  IAGP 8699517 HPOMIM:232700
PYGLHumanHypercholesterolemia  IAGP 8699517 HPOMIM:232700
PYGLHumanHyperlipidemia  IAGP 8699517 HPOMIM:232700
PYGLHumanHyperlipidemia  IAGP 8699517 HPOORPHA:369
PYGLHumanHypertriglyceridemia  IAGP 8699517 HPOMIM:232700
PYGLHumanHypertrophic cardiomyopathy  IAGP 8699517 HPOORPHA:369
1 to 20 of 39 rows

1 to 17 of 17 rows
#
Reference Title
Reference Citation
1. High frequency of missense mutations in glycogen storage disease type VI. Beauchamp NJ, etal., J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.
2. Structural relationships among regulated and unregulated phosphorylases. Buchbinder JL, etal., Annu Rev Biophys Biomol Struct. 2001;30:191-209.
3. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Chang S, etal., Hum Mol Genet. 1998 May;7(5):865-70.
4. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Davit-Spraul A, etal., Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17.
5. Defect in glucokinase translocation in Zucker diabetic fatty rats. Fujimoto Y, etal., Am J Physiol Endocrinol Metab. 2004 Sep;287(3):E414-23. Epub 2004 May 11.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Glycogen phosphorylase: control by phosphorylation and allosteric effectors. Johnson LN FASEB J. 1992 Mar;6(6):2274-82.
8. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
9. Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. Lelli SM, etal., Toxicology. 2005 Dec;216(1):49-58. Epub 2005 Aug 24.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Glycogen-binding protein components of rat tissues. Satoh K and Sato K, Biochem Biophys Res Commun. 1980 Sep 16;96(1):28-33.
17. Proteomic investigation of signatures for geniposide-induced hepatotoxicity. Wei J, etal., J Proteome Res. 2014 Dec 5;13(12):5724-33. doi: 10.1021/pr5007119. Epub 2014 Oct 30.
1 to 17 of 17 rows
1 to 10 of 10 rows
PMID:2877458   PMID:2883891   PMID:3509980   PMID:8125298   PMID:9529348   PMID:10949035   PMID:10980448   PMID:11093832   PMID:12204691   PMID:12477932   PMID:14684825   PMID:15223230  
PMID:15489334   PMID:16196087   PMID:16344560   PMID:17081983   PMID:18029348   PMID:19615732   PMID:20301760   PMID:20379614   PMID:20800603   PMID:21873635   PMID:21903422   PMID:21988832  
PMID:22225877   PMID:22496890   PMID:22586326   PMID:22863883   PMID:23007406   PMID:23125841   PMID:23533145   PMID:24132900   PMID:25036637   PMID:25147182   PMID:25416956   PMID:25910212  
PMID:25963833   PMID:26186194   PMID:26344197   PMID:26511642   PMID:26618866   PMID:26638075   PMID:26831064   PMID:27173435   PMID:27342126   PMID:28330616   PMID:28514442   PMID:28581483  
PMID:28675297   PMID:29053956   PMID:29467282   PMID:29507755   PMID:30021884   PMID:30097533   PMID:30397336   PMID:30463901   PMID:30711629   PMID:30884312   PMID:31091453   PMID:31239290  
PMID:31950832   PMID:31995728   PMID:32126244   PMID:32268899   PMID:32296183   PMID:32416067   PMID:32687490   PMID:32707033   PMID:32807901   PMID:32892177   PMID:32989298   PMID:33141564  
PMID:33144569   PMID:33658012   PMID:33879691   PMID:33961781   PMID:34189442   PMID:34349018   PMID:34516362   PMID:34675331   PMID:35016035   PMID:35037470   PMID:35256949   PMID:35271311  
PMID:35384245   PMID:35446349   PMID:35509820   PMID:35611851   PMID:35831314   PMID:35944360   PMID:36055981   PMID:36114006   PMID:36168627   PMID:36215168   PMID:36261009   PMID:36282215  
PMID:36543142   PMID:36604567   PMID:36634849   PMID:36688959   PMID:37054706   PMID:37167062   PMID:37314216   PMID:37317656   PMID:37827155   PMID:38113892   PMID:38569033   PMID:39147351  
PMID:39358380  
1 to 10 of 10 rows



PYGL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381450,905,217 - 50,944,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1450,857,891 - 50,944,483 (-)EnsemblGRCh38hg38GRCh38
GRCh371451,371,935 - 51,411,201 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361450,441,687 - 50,480,984 (-)NCBINCBI36Build 36hg18NCBI36
Build 341450,441,688 - 50,480,984NCBI
Celera1431,238,983 - 31,278,301 (-)NCBICelera
Cytogenetic Map14q22.1NCBI
HuRef1431,497,509 - 31,536,798 (-)NCBIHuRef
CHM1_11451,310,446 - 51,349,770 (-)NCBICHM1_1
T2T-CHM13v2.01445,111,656 - 45,150,908 (-)NCBIT2T-CHM13v2.0
Pygl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391270,237,589 - 70,274,457 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1270,237,585 - 70,278,262 (-)EnsemblGRCm39 Ensembl
GRCm381270,190,815 - 70,227,683 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1270,190,811 - 70,231,488 (-)EnsemblGRCm38mm10GRCm38
MGSCv371271,291,802 - 71,328,670 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361271,109,416 - 71,146,222 (-)NCBIMGSCv36mm8
Celera1271,292,479 - 71,327,360 (-)NCBICelera
Cytogenetic Map12C2NCBI
cM Map1229.01NCBI
Pygl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8694,433,558 - 94,476,219 (-)NCBIGRCr8
mRatBN7.2688,697,598 - 88,740,260 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl688,697,593 - 88,740,310 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx689,096,834 - 89,133,820 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0689,396,285 - 89,433,272 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0688,835,817 - 88,872,806 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0692,597,759 - 92,643,734 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl692,597,706 - 92,643,847 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06102,045,144 - 102,091,119 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4692,298,339 - 92,341,347 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1692,301,796 - 92,344,803 (-)NCBI
Celera687,191,869 - 87,228,313 (-)NCBICelera
Cytogenetic Map6q24NCBI
Pygl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540911,970,112 - 12,007,102 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540911,970,112 - 12,007,102 (+)NCBIChiLan1.0ChiLan1.0
PYGL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21552,042,469 - 52,082,068 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11451,234,331 - 51,299,970 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01431,494,172 - 31,533,545 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11449,793,210 - 49,832,786 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1449,746,309 - 49,832,786 (-)Ensemblpanpan1.1panPan2
PYGL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1827,264,778 - 27,307,977 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl827,223,273 - 27,307,977 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha827,018,142 - 27,061,230 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0827,443,863 - 27,486,861 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl827,401,678 - 27,486,986 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1827,098,985 - 27,141,894 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0827,171,662 - 27,214,570 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0827,519,107 - 27,562,008 (-)NCBIUU_Cfam_GSD_1.0
Pygl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864059,463,043 - 59,498,992 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649514,692,332 - 14,730,231 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649514,692,688 - 14,728,663 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PYGL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1180,620,314 - 180,719,979 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11180,645,849 - 180,704,124 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21200,933,155 - 200,991,988 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PYGL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12427,987,676 - 28,030,919 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2427,987,649 - 28,030,869 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605316,283,872 - 16,325,710 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pygl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473117,990,977 - 18,028,186 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473117,990,877 - 18,028,351 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in PYGL
352 total Variants

1 to 10 of 397 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) single nucleotide variant not provided [RCV000728606] Chr14:50912166 [GRCh38]
Chr14:51378884 [GRCh37]
Chr14:14q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.1768+1G>A single nucleotide variant Glycogen storage disease, type VI [RCV000012772] Chr14:50912155 [GRCh38]
Chr14:51378873 [GRCh37]
Chr14:14q22.1		 pathogenic
NM_002863.5(PYGL):c.529-1G>C single nucleotide variant Glycogen storage disease, type VI [RCV000012773] Chr14:50924101 [GRCh38]
Chr14:51390819 [GRCh37]
Chr14:14q22.1		 pathogenic
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) single nucleotide variant Glycogen storage disease, type VI [RCV000012775] Chr14:50915933 [GRCh38]
Chr14:51382651 [GRCh37]
Chr14:14q22.1		 pathogenic
NM_002863.5(PYGL):c.1620+1G>A single nucleotide variant Glycogen storage disease, type VI [RCV000012776] Chr14:50913028 [GRCh38]
Chr14:51379746 [GRCh37]
Chr14:14q22.1		 pathogenic|likely pathogenic
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) single nucleotide variant Glycogen storage disease, type VI [RCV000020492]|not provided [RCV000760439] Chr14:50915869 [GRCh38]
Chr14:51382587 [GRCh37]
Chr14:14q22.1		 pathogenic|not provided
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) single nucleotide variant Glycogen storage disease, type VI [RCV000020493] Chr14:50915373 [GRCh38]
Chr14:51382091 [GRCh37]
Chr14:14q22.1		 pathogenic|likely pathogenic|not provided
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) single nucleotide variant Glycogen storage disease, type VI [RCV000020494] Chr14:50914748 [GRCh38]
Chr14:51381466 [GRCh37]
Chr14:14q22.1		 pathogenic|not provided
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile) single nucleotide variant Glycogen storage disease, type VI [RCV000020495] Chr14:50911804 [GRCh38]
Chr14:51378522 [GRCh37]
Chr14:14q22.1		 pathogenic|not provided
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) single nucleotide variant Glycogen storage disease, type VI [RCV000020496]|PYGL-related disorder [RCV003934845]|not provided [RCV000675363] Chr14:50911799 [GRCh38]
Chr14:50911799..50911800 [GRCh38]
Chr14:51378517 [GRCh37]
Chr14:51378517..51378518 [GRCh37]
Chr14:14q22.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
1 to 10 of 397 rows

Predicted Target Of
Summary Value
Count of predictions:765
Count of miRNA genes:526
Interacting mature miRNAs:577
Transcripts:ENST00000216392, ENST00000528757, ENST00000530336, ENST00000532107, ENST00000532462, ENST00000544180, ENST00000553872
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597246680GWAS1342754_Halkaline phosphatase measurement QTL GWAS1342754 (human)5e-09alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)145093754950937550Human
597299406GWAS1395480_Hglycogen phosphorylase, liver form measurement QTL GWAS1395480 (human)7e-13glycogen phosphorylase, liver form measurement145091179950911800Human
597525252GWAS1621326_Hglycogen phosphorylase, liver form measurement QTL GWAS1621326 (human)2e-24glycogen phosphorylase, liver form measurement145092329750923298Human
407028715GWAS677691_Hacute lymphoblastic leukemia QTL GWAS677691 (human)7e-09leukocyte integrity trait (VT:0010898)145093681350936814Human
597163370GWAS1259444_Hcolorectal cancer QTL GWAS1259444 (human)1e-09colorectal cancer145092776250927763Human

D14S952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,393,718 - 51,393,828UniSTSGRCh37
GRCh371451,393,718 - 51,393,877UniSTSGRCh37
Build 361450,463,468 - 50,463,627RGDNCBI36
Celera1431,260,772 - 31,260,882UniSTS
Celera1431,260,772 - 31,260,931RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,519,278 - 31,519,437UniSTS
HuRef1431,519,278 - 31,519,388UniSTS
Stanford-G3 RH Map141509.0UniSTS
NCBI RH Map14510.4UniSTS
RH98538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,371,972 - 51,372,184UniSTSGRCh37
Build 361450,441,722 - 50,441,934RGDNCBI36
Celera1431,239,020 - 31,239,232RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q21-q22UniSTS
HuRef1431,497,546 - 31,497,758UniSTS
GeneMap99-GB4 RH Map14119.09UniSTS
SHGC-146483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,402,611 - 51,402,940UniSTSGRCh37
Build 361450,472,361 - 50,472,690RGDNCBI36
Celera1431,269,665 - 31,269,994RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,528,171 - 31,528,500UniSTS
SHGC-148088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,402,919 - 51,403,205UniSTSGRCh37
Build 361450,472,669 - 50,472,955RGDNCBI36
Celera1431,269,973 - 31,270,259RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,528,479 - 31,528,765UniSTS
TNG Radiation Hybrid Map1414148.0UniSTS
SGC33612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,386,763 - 51,386,864UniSTSGRCh37
Build 361450,456,513 - 50,456,614RGDNCBI36
Celera1431,253,817 - 31,253,918RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,512,324 - 31,512,425UniSTS
GeneMap99-GB4 RH Map14119.09UniSTS
Whitehead-RH Map14180.5UniSTS
NCBI RH Map14513.8UniSTS
A008Q22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,386,786 - 51,386,980UniSTSGRCh37
Build 361450,456,536 - 50,456,730RGDNCBI36
Celera1431,253,840 - 31,254,034RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,512,347 - 31,512,541UniSTS
GeneMap99-GB4 RH Map14119.09UniSTS
NCBI RH Map14513.8UniSTS
WI-18152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,383,143 - 51,383,244UniSTSGRCh37
Build 361450,452,893 - 50,452,994RGDNCBI36
Celera1431,250,199 - 31,250,300RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q21-q22UniSTS
HuRef1431,508,706 - 31,508,807UniSTS
GeneMap99-GB4 RH Map14119.3UniSTS
Whitehead-RH Map14181.2UniSTS
NCBI RH Map14461.5UniSTS
PYGL_8579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,371,740 - 51,372,264UniSTSGRCh37
Build 361450,441,490 - 50,442,014RGDNCBI36
Celera1431,238,788 - 31,239,312RGD
HuRef1431,497,314 - 31,497,838UniSTS
RH44709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,386,837 - 51,386,959UniSTSGRCh37
Build 361450,456,587 - 50,456,709RGDNCBI36
Celera1431,253,891 - 31,254,013RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,512,398 - 31,512,520UniSTS
GeneMap99-GB4 RH Map14119.3UniSTS
NCBI RH Map14461.5UniSTS
HUM000S289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,371,967 - 51,372,147UniSTSGRCh37
Build 361450,441,717 - 50,441,897RGDNCBI36
Celera1431,239,015 - 31,239,195RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q21-q22UniSTS
HuRef1431,497,541 - 31,497,721UniSTS
Stanford-G3 RH Map141502.0UniSTS
NCBI RH Map14509.6UniSTS
GeneMap99-G3 RH Map141550.0UniSTS
AF046786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,381,154 - 51,381,315UniSTSGRCh37
Build 361450,450,904 - 50,451,065RGDNCBI36
Celera1431,248,201 - 31,248,371RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,506,707 - 31,506,877UniSTS
D12S2025  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q21-q22UniSTS
TNG Radiation Hybrid Map1414138.0UniSTS
Stanford-G3 RH Map141515.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map14511.1UniSTS
GeneMap99-G3 RH Map141563.0UniSTS
D14S952  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q21-q22UniSTS
Stanford-G3 RH Map141509.0UniSTS
NCBI RH Map14510.4UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2251 4974 1726 2351 6 624 1938 465 2270 7294 6461 53 3734 1 852 1744 1617 175 1


1 to 28 of 28 rows
RefSeq Transcripts NG_012796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA523002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF046785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF066858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL134906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA287767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 28 of 28 rows

Ensembl Acc Id: ENST00000216392   ⟹   ENSP00000216392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,905,217 - 50,944,483 (-)Ensembl
Ensembl Acc Id: ENST00000528757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,915,190 - 50,915,940 (-)Ensembl
Ensembl Acc Id: ENST00000530336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,923,237 - 50,944,470 (-)Ensembl
Ensembl Acc Id: ENST00000532107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,908,142 - 50,911,871 (-)Ensembl
Ensembl Acc Id: ENST00000532462   ⟹   ENSP00000431657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,857,891 - 50,944,456 (-)Ensembl
Ensembl Acc Id: ENST00000544180   ⟹   ENSP00000443787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,905,218 - 50,944,483 (-)Ensembl
Ensembl Acc Id: ENST00000553872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1450,917,016 - 50,921,528 (-)Ensembl
RefSeq Acc Id: NM_001163940   ⟹   NP_001157412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,905,217 - 50,944,483 (-)NCBI
GRCh371451,371,935 - 51,411,248 (-)ENTREZGENE
HuRef1431,497,509 - 31,536,798 (-)ENTREZGENE
CHM1_11451,310,446 - 51,349,770 (-)NCBI
T2T-CHM13v2.01445,111,656 - 45,150,908 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002863   ⟹   NP_002854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,905,217 - 50,944,483 (-)NCBI
GRCh371451,371,935 - 51,411,248 (-)ENTREZGENE
Build 361450,441,687 - 50,480,984 (-)NCBI Archive
HuRef1431,497,509 - 31,536,798 (-)ENTREZGENE
CHM1_11451,310,446 - 51,349,770 (-)NCBI
T2T-CHM13v2.01445,111,656 - 45,150,908 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001157412   ⟸   NM_001163940
- Peptide Label: isoform 2
- UniProtKB: B2R825 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002854   ⟸   NM_002863
- Peptide Label: isoform 1
- UniProtKB: Q641R5 (UniProtKB/Swiss-Prot),   Q501V9 (UniProtKB/Swiss-Prot),   O60913 (UniProtKB/Swiss-Prot),   O60752 (UniProtKB/Swiss-Prot),   O60567 (UniProtKB/Swiss-Prot),   F5H816 (UniProtKB/Swiss-Prot),   B4DUB7 (UniProtKB/Swiss-Prot),   A6NDQ4 (UniProtKB/Swiss-Prot),   Q96G82 (UniProtKB/Swiss-Prot),   P06737 (UniProtKB/Swiss-Prot),   B2R825 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000216392   ⟸   ENST00000216392
Ensembl Acc Id: ENSP00000443787   ⟸   ENST00000544180
Ensembl Acc Id: ENSP00000431657   ⟸   ENST00000532462

Name Modeler Protein Id AA Range Protein Structure
AF-P06737-F1-model_v2 AlphaFold P06737 1-847 view protein structure

RGD ID:6791828
Promoter ID:HG_KWN:19357
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001163940,   NM_002863,   UC001WYV.1,   UC001WYW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361450,480,706 - 50,481,206 (-)MPROMDB
RGD ID:7227581
Promoter ID:EPDNEW_H19535
Type:initiation region
Name:PYGL_1
Description:glycogen phosphorylase L
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19536  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,944,483 - 50,944,543EPDNEW
RGD ID:7227579
Promoter ID:EPDNEW_H19536
Type:initiation region
Name:PYGL_2
Description:glycogen phosphorylase L
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19535  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,944,722 - 50,944,782EPDNEW


1 to 40 of 45 rows
Database
Acc Id
Source(s)
COSMIC PYGL COSMIC
Ensembl Genes ENSG00000100504 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000216392 ENTREZGENE
  ENST00000216392.8 UniProtKB/Swiss-Prot
  ENST00000544180 ENTREZGENE
  ENST00000544180.6 UniProtKB/Swiss-Prot
Gene3D-CATH Glycogen Phosphorylase B UniProtKB/Swiss-Prot
GTEx ENSG00000100504 GTEx
HGNC ID HGNC:9725 ENTREZGENE
Human Proteome Map PYGL Human Proteome Map
InterPro Glycg_phsphrylas UniProtKB/Swiss-Prot
  Glyco_trans_35 UniProtKB/Swiss-Prot
  Pyridoxal_P_attach_site UniProtKB/Swiss-Prot
KEGG Report hsa:5836 UniProtKB/Swiss-Prot
NCBI Gene 5836 ENTREZGENE
OMIM 613741 OMIM
PANTHER GLYCOGEN PHOSPHORYLASE, LIVER FORM UniProtKB/Swiss-Prot
  PTHR11468 UniProtKB/Swiss-Prot
Pfam Phosphorylase UniProtKB/Swiss-Prot
PharmGKB PA34068 PharmGKB
PIRSF Pprylas_GlgP UniProtKB/Swiss-Prot
PROSITE PHOSPHORYLASE UniProtKB/Swiss-Prot
Superfamily-SCOP UDP-Glycosyltransferase/glycogen phosphorylase UniProtKB/Swiss-Prot
UniProt A6NDQ4 ENTREZGENE
  B2R825 ENTREZGENE, UniProtKB/TrEMBL
  B4DUB7 ENTREZGENE
  E9PK47_HUMAN UniProtKB/TrEMBL
  F5H816 ENTREZGENE
  O60567 ENTREZGENE
  O60752 ENTREZGENE
  O60913 ENTREZGENE
  P06737 ENTREZGENE, UniProtKB/Swiss-Prot
  Q501V9 ENTREZGENE
  Q641R5 ENTREZGENE
  Q6P1L4_HUMAN UniProtKB/TrEMBL
  Q96G82 ENTREZGENE
UniProt Secondary A6NDQ4 UniProtKB/Swiss-Prot
  B4DUB7 UniProtKB/Swiss-Prot
  F5H816 UniProtKB/Swiss-Prot
  O60567 UniProtKB/Swiss-Prot
1 to 40 of 45 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-25 PYGL  glycogen phosphorylase L    phosphorylase, glycogen, liver  Symbol and/or name change 5135510 APPROVED