PYGL glycogen phosphorylase L [Homo sapiens (human)] - Gene

Summary

Official Symbol: PYGLprovided by HGNC
Official Full Name: glycogen phosphorylase Lprovided by HGNC
Primary source: HGNC:HGNC:9725
See related: Ensembl:ENSG00000100504 MIM:613741; AllianceGenome:HGNC:9725
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GSD6
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]
Expression: Broad expression in fat (RPKM 75.5), bone marrow (RPKM 44.9) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q22.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (50905217..50944483, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (45111656..45150908, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (51371935..51411201, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.
Title: miR-155-5p regulates hypoxia-induced pulmonary artery smooth muscle cell function by targeting PYGL.
Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.
Title: Identification of PYGL as a key prognostic gene of glioma by integrated bioinformatics analysis.
Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.
Title: Human hair follicles operate an internal Cori cycle and modulate their growth via glycogen phosphorylase.
Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.
Title: Long noncoding RNA KCNMB2-AS1 promotes the development of esophageal cancer by modulating the miR-3194-3p/PYGL axis.
The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.
Title: The vitamin B6-regulated enzymes PYGL and G6PD fuel NADPH oxidases to promote skin inflammation.
Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
Title: Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
Title: Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
Description of two GSD VI patients expanding the spectrum of PYGL mutations.
Title: Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glycogen storage disease, type VI MedGen: C0017925 OMIM: 232700 GeneReviews: Glycogen Storage Disease Type VI	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of atypical psychosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98538 (e-PCR)
- UniSTS:92189

WI-18152 (e-PCR)
- UniSTS:16688

SHGC-148088 (e-PCR)
- UniSTS:176187

SGC33612 (e-PCR)
- UniSTS:11069

A008Q22 (e-PCR)
- UniSTS:11340

RH44709 (e-PCR)
- UniSTS:35921

SHGC-146483 (e-PCR)
- UniSTS:175246

PYGM (e-PCR)
- UniSTS:504720

D12S2025 (e-PCR)
- UniSTS:27537

D14S952 (e-PCR)
- UniSTS:77980

D14S952 (e-PCR)
- UniSTS:51625

AF046786 (e-PCR)
- UniSTS:64968

HUM000S289 (e-PCR)
- UniSTS:37340

Pygl (e-PCR), detects polymorphism
- UniSTS:526054

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AMP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables SHG alpha-glucan phosphorylase activity	IEA Inferred from Electronic Annotation more info
enables bile acid binding	IDA Inferred from Direct Assay more info	PubMed
enables glucose binding	IDA Inferred from Direct Assay more info	PubMed
enables glycogen phosphorylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycogen phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed
enables glycogen phosphorylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables linear malto-oligosaccharide phosphorylase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables purine nucleobase binding	IDA Inferred from Direct Assay more info	PubMed
enables pyridoxal phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables vitamin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycogen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycogen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in necroptotic process	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glycogen phosphorylase, liver form

Names: phosphorylase, glycogen, liver

NP_001157412.1

EC 2.4.1.1

NP_002854.3

EC 2.4.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012796.1 RefSeqGene

Range

5048..44314

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001163940.2 → NP_001157412.1 glycogen phosphorylase, liver form isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks in an in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AA523002, BC095850

Consensus CDS

CCDS53894.1

UniProtKB/TrEMBL

B2R825

Related

ENSP00000443787.1, ENST00000544180.6

Conserved Domains (1) summary

cd04300
Location:29 → 794

GT1_Glycogen_Phosphorylase; This is a family of oligosaccharide phosphorylases. It includes yeast and mammalian glycogen phosphorylases, plant starch/glucan phosphorylase, as well as the maltodextrin phosphorylases of bacteria. The members of this family catalyze the breakdown of ...
NM_002863.5 → NP_002854.3 glycogen phosphorylase, liver form isoform 1

See identical proteins and their annotated locations for NP_002854.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA523002, BC095850

Consensus CDS

CCDS32080.1

UniProtKB/Swiss-Prot

A6NDQ4, B4DUB7, F5H816, O60567, O60752, O60913, P06737, Q501V9, Q641R5, Q96G82

UniProtKB/TrEMBL

B2R825

Related

ENSP00000216392.7, ENST00000216392.8

Conserved Domains (1) summary

cd04300
Location:29 → 828

GT35_Glycogen_Phosphorylase; glycogen phosphorylase and similar proteins