Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5836
Gene name Gene Name - the full gene name approved by the HGNC.	Glycogen phosphorylase L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PYGL
Synonyms (NCBI Gene) Gene synonyms aliases	GSD6
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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 o

Show/Hide all(26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113993973	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs113993974	C>G	Pathogenic	Splice acceptor variant
rs113993976	T>C	Pathogenic	Missense variant, coding sequence variant
rs113993977	G>C	Pathogenic	Missense variant, coding sequence variant
rs113993978	G>A	Pathogenic	Stop gained, coding sequence variant
rs113993979	C>T	Pathogenic	Missense variant, coding sequence variant
rs113993980	G>A	Pathogenic	Missense variant, coding sequence variant
rs113993981	C>A,G,T	Likely-pathogenic	Splice donor variant
rs113993982	C>G,T	Pathogenic	Splice donor variant
rs113993983	T>A	Pathogenic	Missense variant, coding sequence variant
rs113993984	C>T	Pathogenic	Missense variant, coding sequence variant
rs113993985	A>T	Pathogenic	Missense variant, coding sequence variant
rs113993986	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs113993988	A>G	Pathogenic	Missense variant, coding sequence variant
rs147211684	G>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs149096315	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained
rs150547274	G>T	Pathogenic	Coding sequence variant, stop gained
rs529502292	->G	Pathogenic	Frameshift variant, coding sequence variant
rs749922511	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs755485474	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs760913598	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs765425704	CA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs776545903	C>T	Likely-pathogenic	Splice donor variant
rs1555326546	GTAC>-	Pathogenic	Splice donor variant, intron variant
rs1555328280	TGATCATGGT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1596047883	CTT>TTA	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021033	hsa-miR-155-5p	Proteomics	18668040
MIRT049286	hsa-miR-92a-3p	CLASH	23622248
MIRT049286	hsa-miR-92a-3p	CLASH	23622248
MIRT048878	hsa-miR-93-5p	CLASH	23622248
MIRT047597	hsa-miR-10a-5p	CLASH	23622248
MIRT1279457	hsa-miR-1257	CLIP-seq
MIRT1279458	hsa-miR-1297	CLIP-seq
MIRT1279459	hsa-miR-26a	CLIP-seq
MIRT1279460	hsa-miR-26b	CLIP-seq
MIRT1279461	hsa-miR-3613-5p	CLIP-seq
MIRT1279462	hsa-miR-409-3p	CLIP-seq
MIRT1279463	hsa-miR-4465	CLIP-seq
MIRT1279464	hsa-miR-548c-3p	CLIP-seq
MIRT1279465	hsa-miR-1470	CLIP-seq
MIRT1279466	hsa-miR-4446-5p	CLIP-seq
MIRT1279467	hsa-miR-4667-3p	CLIP-seq
MIRT1279468	hsa-miR-4755-5p	CLIP-seq
MIRT1279469	hsa-miR-4756-3p	CLIP-seq
MIRT1279470	hsa-miR-642a	CLIP-seq

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002060	Function	Purine nucleobase binding	IDA	12204691
GO:0003824	Function	Catalytic activity	IEA
GO:0004645	Function	1,4-alpha-oligoglucan phosphorylase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 32296183, 33961781
GO:0005524	Function	ATP binding	IDA	10949035
GO:0005536	Function	D-glucose binding	IDA	10980448, 12204691
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IMP	10980448, 17705025
GO:0005980	Process	Glycogen catabolic process	IBA
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0008184	Function	Glycogen phosphorylase activity	IBA
GO:0008184	Function	Glycogen phosphorylase activity	IDA	22225877
GO:0008184	Function	Glycogen phosphorylase activity	IEA
GO:0008184	Function	Glycogen phosphorylase activity	IMP	9529348, 10980448, 17705025
GO:0009617	Process	Response to bacterium	IEA
GO:0016208	Function	AMP binding	IDA	10949035, 10980448
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0019842	Function	Vitamin binding	IDA	12204691
GO:0030170	Function	Pyridoxal phosphate binding	IBA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0032052	Function	Bile acid binding	IDA	12204691
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042593	Process	Glucose homeostasis	IMP	17705025
GO:0042802	Function	Identical protein binding	IPI	10980448
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070266	Process	Necroptotic process	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
613741	9725	ENSG00000100504

Protein

UniProt ID

P06737

Protein name

Glycogen phosphorylase, liver form (EC 2.4.1.1)

Protein function

Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis. {ECO:000

PDB

1EM6 , 1EXV , 1FA9 , 1FC0 , 1L5Q , 1L5R , 1L5S , 1L7X , 1XOI , 2ATI , 2QLL , 2ZB2 , 3CEH , 3CEJ , 3CEM , 3DD1 , 3DDS , 3DDW , 8EMS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00343	Phosphorylase	113 → 828	Carbohydrate phosphorylase	Family

Sequence

MAKPLTDQEKRRQISIRGIVGVENVAELKKSFNRHLHFTLVKDRNVATTRDYYFALAHTV
RDHLVGRWIRTQQHYYDKCPKRVYYLSLEFYMGRTLQNTMINLGLQNACDEAIYQLGLDI
EELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEYGIFNQKIRDGWQVEEA
DDWLRYGNPWEKSRPEFMLPVHFYGKVEHTNTGTKWIDTQVVLALPYDTPVPGYMNNTVN
TMRLWSARAPNDFNLRDFNVGDYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFV
VAATLQDIIRRFKASKFGSTRGAGTVFDAFPDQVAIQLNDTHPALAIPELMRIFVDIEKL
PWSKAWELTQKTFAYTNHTVLPEALERWPVDLVEKLLPRHLEIIYEINQKHLDRIVALFP
KDVDRLRRMSLIEEEGSKRINMAHLCIVGSHAVNGVAKIHSDIVKTKVFKDFSELEPDKF
QNKTNGITPRRWLLLCNPGLAELIAEKIGEDYVKDLSQLTKLHSFLGDDVFLRELAKVKQ
ENKLKFSQFLETEYKVKINPSSMFDVQVKRIHEYKRQLLNCLHVITMYNRIKKDPKKLFV
PRTVIIGGKAAPGYHMAKMIIKLITSVADVVNNDPMVGSKLKVIFLENYRVSLAEKVIPA
TDLSEQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGEENLFIFGMRIDDVA
ALDKKGYEAKEYYEALPELKLVIDQIDNGFFSPKQPDLFKDIINMLFYHDRFKVFADYEA
YVKCQDKVSQLYMNPKAWNTMVLKNIAASGKFSSDRTIKEYAQNIWNVEPSDLKISLSNE
SNKVNGN

Sequence length

847

Interactions

View interactions

	KEGG		Reactome
	Starch and sucrose metabolism Metabolic pathways Necroptosis Insulin signaling pathway Glucagon signaling pathway Insulin resistance		Neutrophil degranulation Glycogen breakdown (glycogenolysis)

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Glycogen Storage Disease	Glycogen storage disease, type VI	rs113993986, rs765425704, rs113993973, rs776545903, rs113993975, rs150483902, rs113993976, rs1596047883, rs786204785, rs758943884, rs113993982, rs150547274, rs113993981, rs113993974, rs1555328280 View all (7 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or gastroesophageal reflux disease	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	40183343
Calcinosis Cutis	Associate	37954063
Carcinoma Pancreatic Ductal	Stimulate	37063425
Cerebral Infarction	Associate	25135788
Colorectal Neoplasms	Associate	30820706, 33058866
Esophageal Neoplasms	Associate	34516362
Gastro enteropancreatic neuroendocrine tumor	Associate	37955612
Glioblastoma	Associate	35764612
Glioma	Associate	34512630
Glycogen Storage Disease Type VI	Associate	30659246, 32268899, 32961316, 37264426, 9529348
Hepatomegaly	Associate	32268899, 32961316
Hypertriglyceridemia	Associate	32268899
Hypoglycemia	Associate	32961316
Hypoxia	Associate	35611851
Hypoxia	Stimulate	37063425
Ischemic Stroke	Associate	25135788
Kidney Failure Chronic	Associate	30212930
Mucocutaneous Lymph Node Syndrome	Associate	38427757
Myopathy with Lactic Acidosis Hereditary	Stimulate	37063425
Neoplasm Metastasis	Associate	29954422
Neoplasm Metastasis	Stimulate	37063425
Neoplasms	Associate	37371537, 37954063, 38001067
Pancreatic Neoplasms	Associate	37063425
Pulmonary Arterial Hypertension	Associate	35611851
Squamous Cell Carcinoma of Head and Neck	Associate	33628816, 37371537
Stenosis Pulmonary Artery	Associate	35611851
Stroke	Associate	25135788
Uveal melanoma	Associate	37955612

PYGL (glycogen phosphorylase L)