Pygm MGI Mouse Gene Detail - MGI:97830 - muscle glycogen phosphorylase

Symbol

Pygm
Name

muscle glycogen phosphorylase
Synonyms

PG

Feature Type

protein coding gene
IDs

MGI:97830
NCBI Gene: 19309
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr19:6384408-6398464 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.53 cM
Mapping Data

7 experiments

SNPs within 2kb

77 from dbSNP Build 142
Strain Annotations

18
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97830	protein coding gene	Chr19:6384399-6398464 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024762	protein coding gene	Chr19:3438447-3453755 (+)
A/J	MGP_AJ_G0024728	protein coding gene	Chr19:3250165-3265114 (+)
AKR/J	MGP_AKRJ_G0024701	protein coding gene	Chr19:3348452-3362440 (+)
BALB/cJ	MGP_BALBcJ_G0024728	protein coding gene	Chr19:3248398-3262375 (+)
C3H/HeJ	MGP_C3HHeJ_G0024496	protein coding gene	Chr19:3368482-3382974 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025174	protein coding gene	Chr19:3491444-3505092 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022608	protein coding gene	Chr19:3172835-3188049 (+)
CAST/EiJ	MGP_CASTEiJ_G0023968	protein coding gene	Chr19:3393981-3407660 (+)
CBA/J	MGP_CBAJ_G0024468	protein coding gene	Chr19:3662860-3676622 (+)
DBA/2J	MGP_DBA2J_G0024595	protein coding gene	Chr19:3238892-3252659 (+)
FVB/NJ	MGP_FVBNJ_G0024561	protein coding gene	Chr19:3255656-3269358 (+)
LP/J	MGP_LPJ_G0024681	protein coding gene	Chr19:3404552-3418208 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024590	protein coding gene	Chr19:3484632-3500254 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025222	protein coding gene	Chr19:3373391-3387595 (+)
PWK/PhJ	MGP_PWKPhJ_G0023714	protein coding gene	Chr19:3273443-3287077 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023519	protein coding gene	Chr19:3332638-3346672 (+)
WSB/EiJ	MGP_WSBEiJ_G0024030	protein coding gene	Chr19:3387258-3402297 (+)

Human Ortholog

PYGM, glycogen phosphorylase, muscle associated

Vertebrate Orthologs

9

Human Ortholog

PYGM, glycogen phosphorylase, muscle associated
Orthology source: HomoloGene, HGNC
Synonyms

GSD5
Links

HGNC:9726

NCBI Gene ID: 5837

neXtProt AC: NX_P11217

UniProt: P11217
Chr Location

11q13.1; chr11:64746389-64760715 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 2145
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: PYGM
Protein SuperFamily

glucan phosphorylase
Gene Tree

Pygm

Diseases

1 with Pygm mouse models; 1 with human PYGM associations

Human Disease

Mouse Models

glycogen storage disease V

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Gene trapped

3
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

6 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance.

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All GO Annotations

31
GO References

9

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

182
Tissues

49
cDNA Data

52
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pygm

ZFIN pygma, pygmb

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Pygm interacts with 54 markers (Mir1b, Mir7b, Mir23a, ...) View All

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All Sequences

38
RefSeq

2
UniProt

3
CCDS

CCDS29504.1
UniGene

27806

Ensembl

ENSMUSG00000032648 (Evidence)
NCBI Gene

19309 (Evidence)

			Length	Strain/Species	Flank
genomic	19309	NCBI Gene Model \| MGI Sequence Detail	14057	C57BL/6J	± kb
transcript	NM_011224	RefSeq \| MGI Sequence Detail	2887	C57BL/6
polypeptide	Q9WUB3	UniProt \| EBI \| MGI Sequence Detail	842	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000013522 glycogen phosphorylase, muscle form

(term hierarchy)
EC

2.4.1.1
InterPro Domains

IPR011833 Glycogen/starch/alpha-glucan phosphorylase

IPR000811 Glycosyl transferase, family 35

IPR035090 Phosphorylase pyridoxal-phosphate attachment site

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All nucleic 55

cDNA 54

Primer pair 1

Microarray probesets 4

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MGD-MRK-13703, MGI:2147475

Summaries

All 51

Developmental Gene Expression 5

Diseases 1

Gene Ontology 9

Phenotypes 9
Earliest

J:10246 Glaser T, et al., Localization of the muscle, liver, and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12, and 2, respectively. Genomics. 1989 Oct;5(3):510-21
Latest

J:276503 Real-Martinez A, et al., Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model. Sci Rep. 2019 Mar 26;9(1):5116

TSS for Pygm:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154642	Chr19:6384395-6384422 (+)	1 bp
Tssr154643	Chr19:6384453-6384456 (+)	47 bp
Tssr154650	Chr19:6397640-6397659 (+)	13,242 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 10/15/2019 MGI 6.14