InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PYGL

Summary

InnateDB Gene

IDBG-6391.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PYGL

Gene Name

phosphorylase, glycogen, liver

Synonyms

GSD6

Species

Homo sapiens

Ensembl Gene

ENSG00000100504

Encoded Proteins

IDBP-6393

phosphorylase, glycogen, liver

IDBP-587709

phosphorylase, glycogen, liver

IDBP-599887

phosphorylase, glycogen, liver

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 14:50857891-50944736

Strand

Reverse strand

Band

q22.1

Transcripts

ENST00000216392	ENSP00000216392
ENST00000532462	ENSP00000431657
ENST00000532107
ENST00000528757
ENST00000553872
ENST00000530336
ENST00000544180	ENSP00000443787

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	33 [view]
Protein-Protein	32 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002060	purine nucleobase binding
GO:0004645	phosphorylase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005536	glucose binding
GO:0008144	drug binding
GO:0008184	glycogen phosphorylase activity
GO:0016208	AMP binding
GO:0019842	vitamin binding
GO:0030170	pyridoxal phosphate binding
GO:0030246	carbohydrate binding
GO:0032052	bile acid binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005977	glycogen metabolic process
GO:0005980	glycogen catabolic process
GO:0006006	glucose metabolic process
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process
GO:0042593	glucose homeostasis
GO:0044281	small molecule metabolic process
GO:0070266	necroptotic process

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000021069

View Gene Order

ENSBTAG00000011494

Not yet available

Pathways

NETPATH

NetPath_9

TNFalpha pathway

REACTOME

REACT_1008

Glycogen breakdown (glycogenolysis) pathway

REACT_200783

Myoclonic epilepsy of Lafora pathway

REACT_474

Metabolism of carbohydrates pathway

REACT_111217

Metabolism pathway

REACT_116125

Disease pathway

REACT_723

Glucose metabolism pathway

REACT_200833

Glycogen storage diseases pathway

KEGG

hsa04910

Insulin signaling pathway pathway

hsa00500

Starch and sucrose metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.282417

RefSeq

NM_001163940 NM_002863

HUGO

OMIM

CCDS

CCDS32080 CCDS53894

HPRD

01987

IMGT

EMBL

GenPept

RNA Seq Atlas