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PHKA2 (human)

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; Kinase, protein 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; protein modification process; glucose metabolic process 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

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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

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	15		S7-p	_MRSRsNsGVRLDGY
0	1		K286	TKNEIISKLQGRYGC
0	1		S508-p	HIGVLGTsKLYVIRN
0	2		Y613-p	EFLTTSFyTyLtFLD
0	1		Y615-p	LTTSFyTyLtFLDPD
0	1		T617-p	TSFyTyLtFLDPDCD
0	1		N683	YLPPLCKNTEDRHVF
0	1		T684	LPPLCKNTEDRHVFs
0	4		S691-p	TEDRHVFsAIHsTRD
0	1		S695-p	HVFsAIHsTRDILSV
0	1		T696	VFsAIHsTRDILSVM
0	1		K705	DILSVMAKAKGLEVP
0	1		K728	KVLSAHRKsLNLVDs
0	15		S729-p	VLSAHRKsLNLVDsP
0	3		S735-p	KsLNLVDsPQPLLEK
0	1		K762	HGDVDCEKLVEQLKD
0	1		S771-p	VEQLKDCsNLQDQAD
0	1		S796-p	PSWDTNLsGQHGVtV
0	1		T802-p	LsGQHGVtVQNLLGE
0	1		Y811-p	QNLLGELyGKAGLNQ
0	1		S983	STSSPTISIHEVGHT
0	1		T1011-p	RSEMKQMtRRFsADE
0	74		S1015-p	KQMtRRFsADEQFFs
0	9		S1022-p	sADEQFFsVGQAASS
0	2		S1028	FsVGQAASSSAHSSK
0	1		S1030	VGQAASSSAHSSKSA
0	1		S1033	AASSSAHSSKSARSS
0	3		S1043-p	SARSSTPssPTGTSS
0	2		S1044-p	ARSSTPssPTGTSSS

	mouse
S5	___MRSRSNsGVRLD
S7-p	_MRSRSNsGVRLDGY
K286-u	TKNEIISkLQGRYGC
S508	HIGVLGTSKLYVIRN
Y613	EFLTTSFYTHLTFLD
H615	LTTSFYTHLTFLDPD
T617	TSFYTHLTFLDPDCD
K683-u	YLPPLCKksEDSHFF
S684-p	LPPLCKksEDSHFFS
S691	sEDSHFFSAIHstRD
S695-p	HFFSAIHstRDILSV
T696-p	FFSAIHstRDILSVM
K705-u	DILSVMAkAKGLETT
K728-u	KVLSGHRksLNLVDS
S729-p	VLSGHRksLNLVDSP
S735	ksLNLVDSPQPLLKT
K762-u	HDEVDCEkLVGQLKD
S771	VGQLKDCSNLQDQAD
F796	PRWDTNLFGQHGVTV
T802	LFGQHGVTVHSLLSE
Y811	HSLLSELYGKAGLNQ
S983-p	SMSSPAIsIHEVGHT
N1011	RSEMKQMNRRAsADE
S1015-p	KQMNRRAsADEQFFP
P1022	sADEQFFPLGQTMsN
S1028-p	FPLGQTMsNsLHsIK
S1030-p	LGQTMsNsLHsIKSV
S1033-p	TMsNsLHsIKSVRSS
S1043	SVRSSTPSsPTGTSS
S1044-p	VRSSTPSsPTGTSST

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