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FLASH GENE

Symbol

PHKA1

contributors: mct - updated : 03-02-2017

HGNC name	phosphorylase kinase, alpha 1 (muscle)
HGNC id	8925

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GSD5B glycogen storage disease, type Vb, muscular
Location	Xq13.1      Physical location : 71.798.664 - 71.934.029
Synonym symbol(s)	PHKA, KPB1
EC.number	2.7.1.38

DNA

TYPE	like-sequence
STRUCTURE	133.00 kb     32 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - RPS4X - PHKA1 - DXS1164 - DXS227 - NAP1L2 - DXS1677 - XIST - qter
Authors	McDonnell (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 6177 - 1223 - Pallen (2003) variant 2 - - 6138 - 1223 - Pallen (2003)

EXPRESSION

Type

widely

constitutive of

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 Digestive pharynx       highly Endocrine parathyroid       highly Hearing/Equilibrium ear       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal glucoamylase-like domains

HOMOLOGY

interspecies

homolog to murine Phka1

intraspecies

homolog to PHDA2

Homologene

FAMILY

phosphorylase type b kinase regulatory chain family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

involved in the regulation of glycogen breakdown

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

NFE2L2 induction in skeletal muscle (SkM) increases GBE1 and PHKA1 expression and reduces muscle glycogen content, resulting in improved glucose tolerance

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GSD5B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS