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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5836
Gene name	Glycogen phosphorylase L
Gene symbol	PYGL
Synonyms (NCBI Gene)	GSD6
Chromosome	14
Chromosome location	14q22.1
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 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

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)

310

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs113993981	RCV005887471
Familial cancer of breast	Pathogenic	rs765425704	RCV005870888
Glycogen storage disease, type VI	Pathogenic; Likely pathogenic	rs1243388778, rs774646420, rs750567664, rs754629447, rs2502448999, rs2503486792, rs2503479112, rs2503523725, rs2503489724, rs786204785, rs150547274, rs1042609342, rs2503512754, rs2050602182, rs1469198620 View all (34 more)	RCV001330995 RCV001390321 RCV002250285 RCV002444366 RCV002444367 RCV002444368 RCV002444369 RCV002444370 RCV003063385 RCV000169673 RCV002516658 RCV002657862 RCV002805725 RCV002790488 RCV002967944 RCV003133740 RCV000012772 RCV000012773 RCV000012775 RCV000012776 RCV003340711 RCV003340725 RCV003388769 RCV003388773 RCV003445311 RCV003625259 RCV003989187 RCV003989191 RCV003990536 RCV000020492 RCV000020493 RCV000020499 RCV000020502 RCV000020504 RCV000031853 RCV000661963 RCV000779139 RCV000809511 RCV000811116 RCV000799402 RCV000797589 RCV000989224 RCV001027704 RCV001047405 RCV001053056 RCV001199242 RCV001211148 RCV001231964 RCV001293797 RCV001293798 RCV001293799
PYGL-related disorder	Pathogenic	rs2503489724	RCV003404048
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs113993981	RCV005887472
Uterine corpus endometrial carcinoma	Pathogenic	rs113993982	RCV005887470
Uveal melanoma	Pathogenic	rs113993982	RCV005887469

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1555326546	-
Cervical cancer	Benign	rs147211684	RCV005889707
Cholangiocarcinoma	Benign	rs946618	RCV005924591
Gastric cancer	Benign	rs147211684	RCV005889709
Glycogen storage disease	Conflicting classifications of pathogenicity	rs751175089	RCV005865622
Hepatocellular carcinoma	Benign	rs946618	RCV005924588
Malignant lymphoma, large B-cell, diffuse	Benign	rs946618	RCV005924589
Malignant tumor of esophagus	Benign	rs147211684, rs58462290	RCV005889706 RCV005931396
Melanoma	Likely benign	rs144099482	RCV005901960
Ovarian serous cystadenocarcinoma	Benign	rs147211684	RCV005889710
Sarcoma	Benign	rs147211684	RCV005889708
Uterine carcinosarcoma	Benign	rs2356535, rs946618	RCV005918660 RCV005924590

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)