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FLASH GENE

Symbol

PYGM

contributors: mct - updated : 10-01-2014

HGNC name	phosphorylase, glycogen, muscle
HGNC id	9726

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	14.33 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see MEN1 MEN1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005609 20 - 3633 97 842 - 2010 20957198 NM_001164716 18 - 3369 - 754 - 2010 20957198

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth tongue     highly Reproductive male system prostate       Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to murine Pygm
	ortholog to rattus pygm

Homologene

FAMILY

glycogen phosphorylase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

catalyzing and regulating the breakdown of glycogen to glucose-1-phosphate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

two dimers associate into a tetramer to form the enzymatically active phosphorylase A

INTERACTION

DNA

RNA

small molecule	cofactor,
	pyridoxal phosphate

protein	ACTN3 potentially regulates PYGM activity by altering its level of phosphorylation
	to activate RAC1 and consequently PYGM, PRKCQ phosphorylates ARHGEF6 in T cells

cell & other

REGULATION

Other	allosterically activated by AMP
	allosterically inhibited by ATP, ADP, and glucose-6-phosphate

ASSOCIATED DISORDERS

corresponding disease(s)

PYGM

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS