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Protein Page:
PHKA2 (human)
p Phosphorylation
a Acetylation
m Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
u Ubiquitination
s Sumoylation
n Neddylation
gl O-GlcNAc
ga O-GalNAc
h Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage

Overview
PHKA2 Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin. Defects in PHKA2 are the cause of glycogen storage disease type 9A (GSD9A); also known as X-linked liver glycogenosis (XLG). GSD9A is a metabolic disorder resulting in a mild glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest. Belongs to the phosphorylase b kinase regulatory chain family. Note: This description may include information from UniProtKB.
Protein type: Protein kinase, regulatory subunit
Cellular Component: plasma membrane; phosphorylase kinase complex; cytosol
Molecular Function: calmodulin binding; phosphorylase kinase activity; hydrolase activity, hydrolyzing O-glycosyl compounds
Biological Process: generation of precursor metabolites and energy; glycogen catabolic process; carbohydrate metabolic process; glucose metabolic process; protein modification process; protein amino acid phosphorylation
Reference #:  P46019 (UniProtKB)
Alt. Names/Synonyms: GSD9A; KPB2; MGC133071; PHK; PHKA2; PHKLA; phosphorylase b kinase regulatory subunit alpha liver isoform; Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase kinase alpha L subunit; phosphorylase kinase alpha-subunit; phosphorylase kinase, alpha 2 (liver); PYK; PYKL; XLG; XLG2
Gene Symbols: PHKA2
Molecular weight: 138,408 Da
Basal Isoelectric point: 5.99  Predict pI for various phosphorylation states
Select Structure to View Below

PHKA2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S5-p ___MRSRsNsGVRLD
0 17 S7-p _MRSRsNsGVRLDGY
0 1 K286 TKNEIISKLQGRYGC
0 2 Y613-p EFLTTSFyTYLTFLD
0 1 N683 YLPPLCKNTEDRHVF
0 5 S691-p TEDRHVFsAIHsTRD
0 2 S695-p HVFsAIHsTRDILSV
0 1 K705 DILSVMAKAKGLEVP
0 1 K728 KVLSAHRKsLNLVDs
0 19 S729-p VLSAHRKsLNLVDsP
0 4 S735-p KsLNLVDsPQPLLEK
0 1 K762 HGDVDCEKLVEQLKD
0 1 S983 STSSPTISIHEVGHT
0 77 S1015-p KQMTRRFsADEQFFs
0 9 S1022-p sADEQFFsVGQAASS
0 2 S1028 FsVGQAASSSAHSSK
0 1 S1030 VGQAASSSAHSSKSA
0 1 S1033 AASSSAHSSKSARSS
0 5 S1043-p SARSSTPssPTGTSS
0 3 S1044-p ARSSTPssPTGTSSS
  mouse

 
S5 ___MRSRSNsGVRLD
S7-p _MRSRSNsGVRLDGY
K286-u TKNEIISkLQGRYGC
Y613 EFLTTSFYTHLTFLD
K683-u YLPPLCKkSEDSHFF
S691 SEDSHFFSAIHsTRD
S695-p HFFSAIHsTRDILSV
K705-u DILSVMAkAKGLETT
K728-u KVLSGHRksLNLVDs
S729-p VLSGHRksLNLVDsP
S735-p ksLNLVDsPQPLLKT
K762-u HDEVDCEkLVGQLKD
S983-p SMSSPAIsIHEVGHT
S1015-p KQMNRRAsADEQFFP
P1022 sADEQFFPLGQTMsN
S1028-p FPLGQTMsNsLHsIK
S1030-p LGQTMsNsLHsIKSV
S1033-p TMsNsLHsIKSVRSS
S1043-p SVRSSTPssPTGTSS
S1044-p VRSSTPssPTGTSST
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