UniProtKB - P06737 (PYGL_HUMAN)
Protein
Glycogen phosphorylase, liver form
Gene
PYGL
Organism
Homo sapiens (Human)
Status
Functioni
Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
Catalytic activityi
- EC:2.4.1.1
Cofactori
Activity regulationi
Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 76 | AMPBy similarity | 1 | |
Sitei | 109 | Involved in the association of subunitsBy similarity | 1 | |
Sitei | 143 | Involved in the association of subunitsBy similarity | 1 | |
Sitei | 156 | May be involved in allosteric controlBy similarity | 1 |
GO - Molecular functioni
- AMP binding Source: UniProtKB
- ATP binding Source: UniProtKB
- bile acid binding Source: UniProtKB
- drug binding Source: Ensembl
- glucose binding Source: UniProtKB
- glycogen phosphorylase activity Source: MGI
- identical protein binding Source: UniProtKB
- linear malto-oligosaccharide phosphorylase activity Source: UniProtKB-EC
- purine nucleobase binding Source: UniProtKB
- pyridoxal phosphate binding Source: GO_Central
- SHG alpha-glucan phosphorylase activity Source: UniProtKB-EC
- vitamin binding Source: UniProtKB
GO - Biological processi
- 5-phosphoribose 1-diphosphate biosynthetic process Source: Ensembl
- glucose homeostasis Source: UniProtKB
- glycogen catabolic process Source: GO_Central
- glycogen metabolic process Source: UniProtKB
- necroptotic process Source: Ensembl
- neutrophil degranulation Source: Reactome
- response to bacterium Source: Ensembl
Keywordsi
Molecular function | Allosteric enzyme, Glycosyltransferase, Transferase |
Biological process | Carbohydrate metabolism, Glycogen metabolism |
Ligand | Nucleotide-binding, Pyridoxal phosphate |
Enzyme and pathway databases
BioCyci | MetaCyc:HS02099-MONOMER |
BRENDAi | 2.4.1.1, 2681 |
PathwayCommonsi | P06737 |
Reactomei | R-HSA-6798695, Neutrophil degranulation R-HSA-70221, Glycogen breakdown (glycogenolysis) |
SIGNORi | P06737 |
Protein family/group databases
CAZyi | GT35, Glycosyltransferase Family 35 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:PYGL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9725, PYGL |
MIMi | 613741, gene |
neXtProti | NX_P06737 |
VEuPathDBi | HostDB:ENSG00000100504.16 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
Other locations
- cytoplasm Source: GO_Central
- ficolin-1-rich granule lumen Source: Reactome
- secretory granule lumen Source: Reactome
Pathology & Biotechi
Involvement in diseasei
Glycogen storage disease 6 (GSD6)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_007908 | 339 | N → S in GSD6. 1 PublicationCorresponds to variant dbSNP:rs113993976EnsemblClinVar. | 1 | |
Natural variantiVAR_007909 | 377 | N → K in GSD6. 1 PublicationCorresponds to variant dbSNP:rs113993977EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Glycogen storage diseaseOrganism-specific databases
DisGeNETi | 5836 |
GeneReviewsi | PYGL |
MalaCardsi | PYGL |
MIMi | 232700, phenotype |
OpenTargetsi | ENSG00000100504 |
Orphaneti | 369, Glycogen storage disease due to liver glycogen phosphorylase deficiency |
PharmGKBi | PA34068 |
Miscellaneous databases
Pharosi | P06737, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2568 |
DrugCentrali | P06737 |
Genetic variation databases
BioMutai | PYGL |
DMDMi | 6648082 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000188524 | 2 – 847 | Glycogen phosphorylase, liver formAdd BLAST | 846 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 15 | Phosphoserine; by PHK; in form phosphorylase A1 Publication | 1 | |
Modified residuei | 364 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 524 | PhosphoserineBy similarity | 1 | |
Modified residuei | 561 | PhosphoserineBy similarity | 1 | |
Modified residuei | 639 | PhosphoserineCombined sources | 1 | |
Modified residuei | 681 | N6-(pyridoxal phosphate)lysineBy similarity | 1 |
Post-translational modificationi
Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A.1 Publication
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P06737 |
jPOSTi | P06737 |
MassIVEi | P06737 |
MaxQBi | P06737 |
PaxDbi | P06737 |
PeptideAtlasi | P06737 |
PRIDEi | P06737 |
ProteomicsDBi | 27652 51923 [P06737-1] |
PTM databases
iPTMneti | P06737 |
MetOSitei | P06737 |
PhosphoSitePlusi | P06737 |
SwissPalmi | P06737 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100504, Expressed in blood and 213 other tissues |
ExpressionAtlasi | P06737, baseline and differential |
Genevisiblei | P06737, HS |
Organism-specific databases
HPAi | ENSG00000100504, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A.
Interacts with PPP1R3B (By similarity).
By similarityBinary interactionsi
Hide detailsGO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111794, 66 interactors |
IntActi | P06737, 25 interactors |
MINTi | P06737 |
STRINGi | 9606.ENSP00000216392 |
Chemistry databases
BindingDBi | P06737 |
Miscellaneous databases
RNActi | P06737, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P06737 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P06737 |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycogen phosphorylase family.Curated
Phylogenomic databases
eggNOGi | KOG2099, Eukaryota |
GeneTreei | ENSGT00950000183148 |
HOGENOMi | CLU_010198_1_1_1 |
InParanoidi | P06737 |
OMAi | KSPIDFN |
OrthoDBi | 240595at2759 |
PhylomeDBi | P06737 |
TreeFami | TF300309 |
Family and domain databases
InterProi | View protein in InterPro IPR011833, Glycg_phsphrylas IPR000811, Glyco_trans_35 IPR035090, Pyridoxal_P_attach_site |
PANTHERi | PTHR11468, PTHR11468, 1 hit |
Pfami | View protein in Pfam PF00343, Phosphorylase, 1 hit |
PIRSFi | PIRSF000460, Pprylas_GlgP, 1 hit |
TIGRFAMsi | TIGR02093, P_ylase, 1 hit |
PROSITEi | View protein in PROSITE PS00102, PHOSPHORYLASE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P06737-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAKPLTDQEK RRQISIRGIV GVENVAELKK SFNRHLHFTL VKDRNVATTR
60 70 80 90 100
DYYFALAHTV RDHLVGRWIR TQQHYYDKCP KRVYYLSLEF YMGRTLQNTM
110 120 130 140 150
INLGLQNACD EAIYQLGLDI EELEEIEEDA GLGNGGLGRL AACFLDSMAT
160 170 180 190 200
LGLAAYGYGI RYEYGIFNQK IRDGWQVEEA DDWLRYGNPW EKSRPEFMLP
210 220 230 240 250
VHFYGKVEHT NTGTKWIDTQ VVLALPYDTP VPGYMNNTVN TMRLWSARAP
260 270 280 290 300
NDFNLRDFNV GDYIQAVLDR NLAENISRVL YPNDNFFEGK ELRLKQEYFV
310 320 330 340 350
VAATLQDIIR RFKASKFGST RGAGTVFDAF PDQVAIQLND THPALAIPEL
360 370 380 390 400
MRIFVDIEKL PWSKAWELTQ KTFAYTNHTV LPEALERWPV DLVEKLLPRH
410 420 430 440 450
LEIIYEINQK HLDRIVALFP KDVDRLRRMS LIEEEGSKRI NMAHLCIVGS
460 470 480 490 500
HAVNGVAKIH SDIVKTKVFK DFSELEPDKF QNKTNGITPR RWLLLCNPGL
510 520 530 540 550
AELIAEKIGE DYVKDLSQLT KLHSFLGDDV FLRELAKVKQ ENKLKFSQFL
560 570 580 590 600
ETEYKVKINP SSMFDVQVKR IHEYKRQLLN CLHVITMYNR IKKDPKKLFV
610 620 630 640 650
PRTVIIGGKA APGYHMAKMI IKLITSVADV VNNDPMVGSK LKVIFLENYR
660 670 680 690 700
VSLAEKVIPA TDLSEQISTA GTEASGTGNM KFMLNGALTI GTMDGANVEM
710 720 730 740 750
AEEAGEENLF IFGMRIDDVA ALDKKGYEAK EYYEALPELK LVIDQIDNGF
760 770 780 790 800
FSPKQPDLFK DIINMLFYHD RFKVFADYEA YVKCQDKVSQ LYMNPKAWNT
810 820 830 840
MVLKNIAASG KFSSDRTIKE YAQNIWNVEP SDLKISLSNE SNKVNGN
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PK47 | E9PK47_HUMAN | Alpha-1,4 glucan phosphorylase | PYGL | 819 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 2 – 3 | AK → GE in AAA52577 (PubMed:2877458).Curated | 2 | |
Sequence conflicti | 2 – 3 | AK → GE in AAC18079 (PubMed:9536091).Curated | 2 | |
Sequence conflicti | 83 | V → E in AAA52577 (PubMed:2877458).Curated | 1 | |
Sequence conflicti | 323 | A → Q in AAA52577 (PubMed:2877458).Curated | 1 | |
Sequence conflicti | 344 – 345 | AL → RI in AAA52577 (PubMed:2877458).Curated | 2 | |
Sequence conflicti | 369 | T → N in AAA52577 (PubMed:2877458).Curated | 1 | |
Sequence conflicti | 369 | T → N in AAC18079 (PubMed:9536091).Curated | 1 | |
Sequence conflicti | 570 | R → S in AAC17450 (Ref. 2) Curated | 1 | |
Sequence conflicti | 683 | Missing in AAH09895 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 715 | R → G in BAG62279 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_007907 | 222 | V → I1 PublicationCorresponds to variant dbSNP:rs946616EnsemblClinVar. | 1 | |
Natural variantiVAR_013095 | 231 | V → E. Corresponds to variant dbSNP:rs1042195Ensembl. | 1 | |
Natural variantiVAR_007908 | 339 | N → S in GSD6. 1 PublicationCorresponds to variant dbSNP:rs113993976EnsemblClinVar. | 1 | |
Natural variantiVAR_007909 | 377 | N → K in GSD6. 1 PublicationCorresponds to variant dbSNP:rs113993977EnsemblClinVar. | 1 | |
Natural variantiVAR_034425 | 425 | R → P1 PublicationCorresponds to variant dbSNP:rs2228499Ensembl. | 1 | |
Natural variantiVAR_034426 | 698 | V → G. Corresponds to variant dbSNP:rs35831273Ensembl. | 1 | |
Natural variantiVAR_013096 | 715 | R → S. Corresponds to variant dbSNP:rs1042210Ensembl. | 1 | |
Natural variantiVAR_034427 | 806 | I → L. Corresponds to variant dbSNP:rs34313873EnsemblClinVar. | 1 | |
Natural variantiVAR_069054 | 845 | N → S1 PublicationCorresponds to variant dbSNP:rs78558135EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045339 | 82 – 115 | Missing in isoform 2. 1 PublicationAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M14636 mRNA Translation: AAA52577.1 AF066858 mRNA Translation: AAC17450.1 AF046798 , AF046787, AF046788, AF046789, AF046790, AF046791, AF046792, AF046793, AF046794, AF046795, AF046796, AF046797 Genomic DNA Translation: AAC18079.1 AF046785 mRNA Translation: AAC23504.1 Y15233 mRNA Translation: CAA75517.1 AK300580 mRNA Translation: BAG62279.1 AL358334 Genomic DNA No translation available. CH471078 Genomic DNA Translation: EAW65685.1 BC009895 mRNA Translation: AAH09895.3 BC082229 mRNA Translation: AAH82229.2 BC095850 mRNA Translation: AAH95850.2 BC110791 mRNA Translation: AAI10792.2 M36807 mRNA Translation: AAA35906.1 |
CCDSi | CCDS32080.1 [P06737-1] CCDS53894.1 [P06737-2] |
PIRi | A25518 |
RefSeqi | NP_001157412.1, NM_001163940.1 [P06737-2] NP_002854.3, NM_002863.4 [P06737-1] |
Genome annotation databases
Ensembli | ENST00000216392; ENSP00000216392; ENSG00000100504 [P06737-1] ENST00000544180; ENSP00000443787; ENSG00000100504 [P06737-2] |
GeneIDi | 5836 |
KEGGi | hsa:5836 |
UCSCi | uc001wyu.4, human [P06737-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M14636 mRNA Translation: AAA52577.1 AF066858 mRNA Translation: AAC17450.1 AF046798 , AF046787, AF046788, AF046789, AF046790, AF046791, AF046792, AF046793, AF046794, AF046795, AF046796, AF046797 Genomic DNA Translation: AAC18079.1 AF046785 mRNA Translation: AAC23504.1 Y15233 mRNA Translation: CAA75517.1 AK300580 mRNA Translation: BAG62279.1 AL358334 Genomic DNA No translation available. CH471078 Genomic DNA Translation: EAW65685.1 BC009895 mRNA Translation: AAH09895.3 BC082229 mRNA Translation: AAH82229.2 BC095850 mRNA Translation: AAH95850.2 BC110791 mRNA Translation: AAI10792.2 M36807 mRNA Translation: AAA35906.1 |
CCDSi | CCDS32080.1 [P06737-1] CCDS53894.1 [P06737-2] |
PIRi | A25518 |
RefSeqi | NP_001157412.1, NM_001163940.1 [P06737-2] NP_002854.3, NM_002863.4 [P06737-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1EM6 | X-ray | 2.20 | A/B | 1-847 | [»] | |
1EXV | X-ray | 2.40 | A/B | 1-847 | [»] | |
1FA9 | X-ray | 2.40 | A | 2-847 | [»] | |
1FC0 | X-ray | 2.40 | A/B | 2-847 | [»] | |
1L5Q | X-ray | 2.25 | A/B | 1-847 | [»] | |
1L5R | X-ray | 2.10 | A/B | 1-847 | [»] | |
1L5S | X-ray | 2.10 | A/B | 1-847 | [»] | |
1L7X | X-ray | 2.30 | A/B | 1-847 | [»] | |
1XOI | X-ray | 2.10 | A/B | 2-847 | [»] | |
2ATI | X-ray | 1.90 | A/B | 2-847 | [»] | |
2QLL | X-ray | 2.56 | A | 1-847 | [»] | |
2ZB2 | X-ray | 2.45 | A/B | 1-847 | [»] | |
3CEH | X-ray | 2.80 | A/B | 24-832 | [»] | |
3CEJ | X-ray | 3.30 | A/B | 24-832 | [»] | |
3CEM | X-ray | 2.47 | A/B | 24-832 | [»] | |
3DD1 | X-ray | 2.57 | A/B | 2-847 | [»] | |
3DDS | X-ray | 1.80 | A/B | 2-847 | [»] | |
3DDW | X-ray | 1.90 | A/B | 2-847 | [»] | |
SMRi | P06737 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111794, 66 interactors |
IntActi | P06737, 25 interactors |
MINTi | P06737 |
STRINGi | 9606.ENSP00000216392 |
Chemistry databases
BindingDBi | P06737 |
ChEMBLi | CHEMBL2568 |
DrugCentrali | P06737 |
Protein family/group databases
CAZyi | GT35, Glycosyltransferase Family 35 |
PTM databases
iPTMneti | P06737 |
MetOSitei | P06737 |
PhosphoSitePlusi | P06737 |
SwissPalmi | P06737 |
Genetic variation databases
BioMutai | PYGL |
DMDMi | 6648082 |
Proteomic databases
EPDi | P06737 |
jPOSTi | P06737 |
MassIVEi | P06737 |
MaxQBi | P06737 |
PaxDbi | P06737 |
PeptideAtlasi | P06737 |
PRIDEi | P06737 |
ProteomicsDBi | 27652 51923 [P06737-1] |
Protocols and materials databases
Antibodypediai | 25, 289 antibodies |
DNASUi | 5836 |
Genome annotation databases
Ensembli | ENST00000216392; ENSP00000216392; ENSG00000100504 [P06737-1] ENST00000544180; ENSP00000443787; ENSG00000100504 [P06737-2] |
GeneIDi | 5836 |
KEGGi | hsa:5836 |
UCSCi | uc001wyu.4, human [P06737-1] |
Organism-specific databases
CTDi | 5836 |
DisGeNETi | 5836 |
GeneCardsi | PYGL |
GeneReviewsi | PYGL |
HGNCi | HGNC:9725, PYGL |
HPAi | ENSG00000100504, Low tissue specificity |
MalaCardsi | PYGL |
MIMi | 232700, phenotype 613741, gene |
neXtProti | NX_P06737 |
OpenTargetsi | ENSG00000100504 |
Orphaneti | 369, Glycogen storage disease due to liver glycogen phosphorylase deficiency |
PharmGKBi | PA34068 |
VEuPathDBi | HostDB:ENSG00000100504.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2099, Eukaryota |
GeneTreei | ENSGT00950000183148 |
HOGENOMi | CLU_010198_1_1_1 |
InParanoidi | P06737 |
OMAi | KSPIDFN |
OrthoDBi | 240595at2759 |
PhylomeDBi | P06737 |
TreeFami | TF300309 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS02099-MONOMER |
BRENDAi | 2.4.1.1, 2681 |
PathwayCommonsi | P06737 |
Reactomei | R-HSA-6798695, Neutrophil degranulation R-HSA-70221, Glycogen breakdown (glycogenolysis) |
SIGNORi | P06737 |
Miscellaneous databases
BioGRID-ORCSi | 5836, 6 hits in 871 CRISPR screens |
ChiTaRSi | PYGL, human |
EvolutionaryTracei | P06737 |
GenomeRNAii | 5836 |
Pharosi | P06737, Tchem |
PROi | PR:P06737 |
RNActi | P06737, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100504, Expressed in blood and 213 other tissues |
ExpressionAtlasi | P06737, baseline and differential |
Genevisiblei | P06737, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011833, Glycg_phsphrylas IPR000811, Glyco_trans_35 IPR035090, Pyridoxal_P_attach_site |
PANTHERi | PTHR11468, PTHR11468, 1 hit |
Pfami | View protein in Pfam PF00343, Phosphorylase, 1 hit |
PIRSFi | PIRSF000460, Pprylas_GlgP, 1 hit |
TIGRFAMsi | TIGR02093, P_ylase, 1 hit |
PROSITEi | View protein in PROSITE PS00102, PHOSPHORYLASE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PYGL_HUMAN | |
Accessioni | P06737Primary (citable) accession number: P06737 Secondary accession number(s): A6NDQ4 Q96G82 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 1, 1988 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 233 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families