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PYGB glycogen phosphorylase B [ Homo sapiens (human) ]

Gene ID: 5834, updated on 8-Jul-2021

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
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
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Genomic context

See PYGB in Genome Data Viewer
Location:
20p11.21
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (25248039..25298012)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25228721..25278648)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926889 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 6 Neighboring gene uncharacterized LOC105372579 Neighboring gene Sharpr-MPRA regulatory region 4288 Neighboring gene abhydrolase domain containing 12, lysophospholipase 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from PubChem

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
enables SHG alpha-glucan phosphorylase activity IEA
Inferred from Electronic Annotation
more info
 
enables glycogen phosphorylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glycogen phosphorylase activity NAS
Non-traceable Author Statement
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 pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in glycogen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glycogen catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_002862.4NP_002853.2  glycogen phosphorylase, brain form

    See identical proteins and their annotated locations for NP_002853.2

    Status: REVIEWED

    Source sequence(s)
    AL121772
    Consensus CDS
    CCDS13171.1
    UniProtKB/Swiss-Prot
    P11216
    Related
    ENSP00000216962.3, ENST00000216962.9
    Conserved Domains (1) summary
    cd04300
    Location:29828
    GT35_Glycogen_Phosphorylase; glycogen phosphorylase and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_002958496.1 RNA Sequence

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