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PYGB glycogen phosphorylase B [ Homo sapiens (human) ]

Gene ID: 5834, updated on 21-Oct-2018

Summary

Official Symbol
PYGBprovided by HGNC
Official Full Name
glycogen phosphorylase Bprovided by HGNC
Primary source
HGNC:HGNC:9723
See related
Ensembl:ENSG00000100994 MIM:138550; Vega:OTTHUMG00000032117
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
GPBB
Summary
The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 67.8), heart (RPKM 66.8) and 23 other tissues See more
Orthologs

Genomic context

See PYGB in Genome Data Viewer
Location:
20p11.21
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (25248039..25298012)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25228706..25278648)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926889 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 6 (putative) Neighboring gene uncharacterized LOC105372579 Neighboring gene abhydrolase domain containing 12 Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene uncharacterized LOC105372581 Neighboring gene GINS complex subunit 1

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9213

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SHG alpha-glucan phosphorylase activity IEA
Inferred from Electronic Annotation
more info
 
glycogen phosphorylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycogen phosphorylase activity NAS
Non-traceable Author Statement
more info
PubMed 
linear malto-oligosaccharide phosphorylase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
glycogen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycogen catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
glycogen phosphorylase, brain form
Names
phosphorylase, glycogen; brain
NP_002853.2

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_002862.3NP_002853.2  glycogen phosphorylase, brain form

    See identical proteins and their annotated locations for NP_002853.2

    Status: REVIEWED

    Source sequence(s)
    BC017045, BQ433140, U47025
    Consensus CDS
    CCDS13171.1
    UniProtKB/Swiss-Prot
    P11216
    Related
    ENSP00000216962.3, OTTHUMP00000030488, ENST00000216962.8, OTTHUMT00000078415
    Conserved Domains (1) summary
    cd04300
    Location:29828
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    25248039..25298012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002958496.1 RNA Sequence

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