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PHKA2 phosphorylase kinase, alpha 2 (liver) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000292 Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005274548 PREDICTED: Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005274550 PREDICTED: Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006724496 PREDICTED: Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006724497 PREDICTED: Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006724498 PREDICTED: Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

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Gene Symbol PHKA2
Entrez Gene ID 5256
Full Name phosphorylase kinase, alpha 2 (liver)
Synonyms GSD9A, PHK, PYK, PYKL, XLG, XLG2
General protein information
Preferred Names
phosphorylase b kinase regulatory subunit alpha, liver isoform
Names
phosphorylase b kinase regulatory subunit alpha, liver isoform
phosphorylase kinase alpha-subunit
phosphorylase kinase alpha L subunit
phosphorylase b kinase regulatory subunit alpha liver isoform
NP_000283.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.2-p22.1

Summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010].
Disorder

MIM: 300798

Glycogen storage disease, type IXa1, 306000 (3); Glycogen storage

mRNA Protein Product Sequence Price Select
NM_000292, 169790834 NP_000283, 4505781 phosphorylase b kinase regulatory subunit alpha, liver isoform ORF Sequence $1500.00
XM_005274548, 578837917 XP_005274605, 530421168 phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X1 ORF Sequence $1500.00
XM_005274550, 578837918 XP_005274607, 530421172 phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X3 ORF Sequence $1500.00
XM_006724496, 578837913 XP_006724559, 578837914 phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X4 ORF Sequence $1500.00
XM_006724497, 578837915 XP_006724560, 578837916 phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X5 ORF Sequence $1500.00
XM_006724498, 578837919 XP_006724561, 578837920 phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X6 ORF Sequence $1500.00
KEGG
hsa04020Calcium signaling pathway
hsa04910Insulin signaling pathway
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_1008Glycogen breakdown (glycogenolysis)
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)PHKA2NP_000283.1
Pan troglodytes (chimpanzee)PHKA2XP_003317431.1
Macaca mulatta (Rhesus monkey)PHKA2XP_001084454.1
Canis lupus familiaris (dog)PHKA2XP_005641224.1
Bos taurus (cattle)PHKA2NP_001178474.1
Mus musculus (house mouse)Phka2NP_001171350.1
Rattus norvegicus (Norway rat)Phka2NP_001177923.1
Gallus gallus (chicken)PHKA2XP_004934744.1
Danio rerio (zebrafish)LOC556199XP_684044.4
Drosophila melanogaster (fruit fly)CG7766NP_001138180.1
Caenorhabditis elegansC14B9.8NP_498777.2
Xenopus (Silurana) tropicalis (western clawed frog)phka2XP_004911720.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0005980glycogen catabolic processTAS
GO:0006006glucose metabolic processTAS
GO:0006091generation of precursor metabolites and energyTAS
GO:0006464cellular protein modification processTAS
GO:0006468protein phosphorylationTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0005886plasma membraneIEA
GO:0005964phosphorylase kinase complexIEA
Function
IDNameEvidence
GO:0004553hydrolase activity, hydrolyzing O-glycosyl compoundsIEA
GO:0004689phosphorylase kinase activityTAS
GO:0005516calmodulin bindingIEA
GeneCards PHKA2
UniProt P46019
Vega OTTHUMG00000021222
MIM 300798
Ensembl ENSG00000044446
HGNC 8926
HPRD 02380

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PHKA2 gene?

The PHKA2 gene provides instructions for making one piece, the alpha subunit, of the phosphorylase b kinase enzyme. This enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. (Each subunit is produced from a different gene.) The alpha subunit helps regulate the activity of phosphorylase b kinase. This enzyme is found in various tissues, although it is most abundant in the liver and muscles. One version of the enzyme is found in liver cells and another in muscle cells. The alpha-2 subunit produced from the PHKA2 gene is part of the enzyme found in the liver.

Phosphorylase b kinase plays an important role in providing energy for cells. The main source of cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can be broken down rapidly when glucose is needed, for instance to maintain normal levels of glucose in the blood between meals. Phosphorylase b kinase turns on (activates) another enzyme called glycogen phosphorylase b by converting it to the more active form, glycogen phosphorylase a. When active, this enzyme breaks down glycogen.

Interactant

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