PYGM glycogen phosphorylase, muscle associated [Bos taurus (domestic cattle)] - Gene

Summary

Official Symbol: PYGMprovided by VGNC
Official Full Name: glycogen phosphorylase, muscle associatedprovided by VGNC
Primary source: VGNC:VGNC:33589
See related: BGD:BT11282; Ensembl:ENSBTAG00000001032
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 29

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_09	current	ARS-UCD2.0 (GCF_002263795.3)	29	NC_037356.1 (42985604..42997404, complement)

Chromosome 29 - NC_037356.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037356.1 Chromosome 29 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle.
Title: An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle.

Submit: New GeneRIF Correction

General gene information

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Markers

PYGM (e-PCR)
- UniSTS:504720

ECD02718 (e-PCR)
- UniSTS:283812

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables glycogen phosphorylase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in glycogen catabolic process	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: glycogen phosphorylase, muscle form

Names: myophosphorylase; phosphorylase, glycogen, muscle; phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)

NP_786980.1

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.

mRNA and Protein(s)

NM_175786.2 → NP_786980.1 glycogen phosphorylase, muscle form

See identical proteins and their annotated locations for NP_786980.1

Status: PROVISIONAL

Source sequence(s)

S82859

UniProtKB/Swiss-Prot

P79334

UniProtKB/TrEMBL

B0JYK6

Related

ENSBTAP00000001373.4, ENSBTAT00000001373.6

Conserved Domains (2) summary

cd04300
Location:29 → 828

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 ...

TIGR02093
Location:32 → 828

P_ylase; glycogen/starch/alpha-glucan phosphorylases