PHKA2

Functionⁱ

Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.

Activity regulationⁱ

By phosphorylation of various serine residues and by calcium.

Pathwayⁱ: glycogen metabolism

This protein is involved in the pathway glycogen metabolism, which is part of Glycan biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycogen metabolism and in Glycan biosynthesis.

GO - Molecular functionⁱ

calmodulin binding Source: UniProtKB-KW
phosphorylase kinase activity
Source: ProtInc
Traceable author statementⁱ
- 7549948

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

carbohydrate metabolic process
Source: ProtInc
Traceable author statementⁱ
- 7549948
cellular protein modification process
Source: ProtInc
Traceable author statementⁱ
- 7549948
generation of precursor metabolites and energy
Source: ProtInc
Traceable author statementⁱ
- 7549948
glycogen metabolic process Source: UniProtKB-UniPathway

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Calmodulin-binding
Biological process	Carbohydrate metabolism, Glycogen metabolism

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS00576-MONOMER
BRENDAⁱ	2.7.11.19 2681
Reactomeⁱ	R-HSA-70221 Glycogen breakdown (glycogenolysis)
UniPathwayⁱ	UPA00163

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Phosphorylase b kinase regulatory subunit alpha, liver isoform Short name: Phosphorylase kinase alpha L subunit
Gene namesⁱ	Name:PHKA2 Synonyms:PHKLA, PYK
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000044446.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:8926 PHKA2
MIMⁱ	300798 gene
neXtProtⁱ	NX_P46019

Keywords - Cellular componentⁱ

Cell membrane, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Glycogen storage disease 9A (GSD9A)7 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA metabolic disorder resulting in a mild liver 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_062393	120	T → TYNTAT in GSD9A.	1
Natural variantⁱVAR_006177	132	H → P in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852291EnsemblClinVar.	1
Natural variantⁱVAR_006178	132	H → Y in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852292EnsemblClinVar.	1
Natural variantⁱVAR_006179	141	Missing in GSD9A; type 1. 1 Publication	1
Natural variantⁱVAR_006180	186	R → C in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852294EnsemblClinVar.	1
Natural variantⁱVAR_006181	186	R → H in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852290EnsemblClinVar.	1
Natural variantⁱVAR_012270	189 – 190	Missing in GSD9A; type 2. 1 Publication	2
Natural variantⁱVAR_012269	189	K → E in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852295EnsemblClinVar.	1
Natural variantⁱVAR_012271	193	G → V in GSD9A; type 2. 1 Publication	1
Natural variantⁱVAR_006182	251	Missing in GSD9A; type 2. 1 Publication	1
Natural variantⁱVAR_012272	295	R → H in GSD9A; type 1 and type 2. 1 PublicationCorresponds to variant dbSNP:rs797044877EnsemblClinVar.	1
Natural variantⁱVAR_006183	299	D → G in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852289EnsemblClinVar.	1
Natural variantⁱVAR_012273	399	P → S in GSD9A; type 1. 1 Publication	1
Natural variantⁱVAR_062394	498	P → L in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs199792389EnsemblClinVar.	1
Natural variantⁱVAR_012274	818 – 825	Missing in GSD9A; type 1. 1 Publication	8
Natural variantⁱVAR_062395	869	P → R in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs777137574Ensembl.	1
Natural variantⁱVAR_062396	916	R → W in GSD9A. 1 Publication	1
Natural variantⁱVAR_012275	953 – 954	NL → I in GSD9A; type 1.	2
Natural variantⁱVAR_062397	1070	Missing in GSD9A. 1 Publication	1
Natural variantⁱVAR_006184	1111	R → RTR in GSD9A; type 2.	1
Natural variantⁱVAR_062398	1113	M → I in GSD9A. 1 Publication	1
Natural variantⁱVAR_006185	1114	T → I in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852293EnsemblClinVar.	1
Natural variantⁱVAR_012276	1125	E → K in GSD9A; type 1. 1 Publication	1
Natural variantⁱVAR_006186	1205	P → L in GSD9A; type 1. 1 PublicationCorresponds to variant dbSNP:rs137852288EnsemblClinVar.	1
Natural variantⁱVAR_012277	1207	G → W in GSD9A; type 1. 1 Publication	1

Keywords - Diseaseⁱ

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	5256
GeneReviewsⁱ	PHKA2
MalaCards human disease database More...MalaCardsⁱ	PHKA2
MIMⁱ	306000 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000044446
Orphanetⁱ	264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
PharmGKBⁱ	PA33267

Chemistry databases

ChEMBLⁱ	CHEMBL2111324

ChEMBLⁱ

CHEMBL2111324

Polymorphism and mutation databases

BioMutaⁱ	PHKA2
DMDMⁱ	1170685

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000057730	1 – 1235	Phosphorylase b kinase regulatory subunit alpha, liver isoformAdd BLAST		1235

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	695	PhosphoserineCombined sources	1
Modified residueⁱ	729	PhosphoserineCombined sources	1
Modified residueⁱ	735	PhosphoserineCombined sources	1
Modified residueⁱ	983	PhosphoserineCombined sources	1
Modified residueⁱ	1015	PhosphoserineCombined sources	1
Modified residueⁱ	1044	PhosphoserineCombined sources	1
Lipidationⁱ	1232	S-farnesyl cysteineBy similarity	1

Post-translational modificationⁱ

Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.By similarity

Keywords - PTMⁱ

Lipoprotein, Phosphoprotein, Prenylation

Proteomic databases

EPDⁱ	P46019
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P46019
PaxDbⁱ	P46019
PeptideAtlas More...PeptideAtlasⁱ	P46019
PRIDEⁱ	P46019
ProteomicsDBⁱ	55707

PTM databases

iPTMnetⁱ	P46019
PhosphoSitePlusⁱ	P46019

Expressionⁱ

Tissue specificityⁱ

Predominantly expressed in liver and other non-muscle tissues.

Gene expression databases

Bgeeⁱ	ENSG00000044446 Expressed in 212 organ(s), highest expression level in right lobe of liver
CleanExⁱ	HS_PHKA2
Genevisibleⁱ	P46019 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA002912

HPAⁱ

HPA002912

Interactionⁱ

Subunit structureⁱ

Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
PHKG2	P15735	4	EBI-1642846,EBI-1383819

With

Entry

#Exp.

IntAct

Notes

PHKG2

P15735

4

EBI-1642846,EBI-1383819

GO - Molecular functionⁱ

calmodulin binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	111274, 27 interactors
IntActⁱ	P46019, 14 interactors
Molecular INTeraction database More...MINTⁱ	P46019
STRINGⁱ	9606.ENSP00000369274

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P46019
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	807 – 837	Calmodulin-bindingSequence analysisAdd BLAST		31
Regionⁱ	1059 – 1099	Calmodulin-bindingSequence analysisAdd BLAST		41

Sequence similaritiesⁱ

Belongs to the phosphorylase b kinase regulatory chain family.Curated

Phylogenomic databases

eggNOGⁱ	KOG3635 Eukaryota ENOG410XPJZ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00520000055553
HOGENOMⁱ	HOG000231478
HOVERGENⁱ	HBG000273
InParanoidⁱ	P46019
KEGG Orthology (KO) More...KOⁱ	K07190
OMAⁱ	HVPQPEY
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G00NN
PhylomeDBⁱ	P46019
TreeFamⁱ	TF313970

Family and domain databases

Gene3Dⁱ	1.50.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR008928 6-hairpin_glycosidase_sf IPR012341 6hp_glycosidase-like_sf IPR011613 GH15-like IPR008734 PHK_A/B_su
PANTHERⁱ	PTHR10749 PTHR10749, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00723 Glyco_hydro_15, 1 hit
SUPFAMⁱ	SSF48208 SSF48208, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

P46019-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MRSRSNSGVR LDGYARLVQQ TILCYQNPVT GLLSASHEQK DAWVRDNIYS 
        60         70         80         90        100
ILAVWGLGMA YRKNADRDED KAKAYELEQN VVKLMRGLLQ CMMRQVAKVE 
       110        120        130        140        150
KFKHTQSTKD SLHAKYNTAT CGTVVGDDQW GHLQVDATSL FLLFLAQMTA 
       160        170        180        190        200
SGLRIIFTLD EVAFIQNLVF YIEAAYKVAD YGMWERGDKT NQGIPELNAS 
       210        220        230        240        250
SVGMAKAALE AIDELDLFGA HGGRKSVIHV LPDEVEHCQS ILFSMLPRAS 
       260        270        280        290        300
TSKEIDAGLL SIISFPAFAV EDVNLVNVTK NEIISKLQGR YGCCRFLRDG 
       310        320        330        340        350
YKTPREDPNR LHYDPAELKL FENIECEWPV FWTYFIIDGV FSGDAVQVQE 
       360        370        380        390        400
YREALEGILI RGKNGIRLVP ELYAVPPNKV DEEYKNPHTV DRVPMGKVPH 
       410        420        430        440        450
LWGQSLYILS SLLAEGFLAA GEIDPLNRRF STSVKPDVVV QVTVLAENNH 
       460        470        480        490        500
IKDLLRKHGV NVQSIADIHP IQVQPGRILS HIYAKLGRNK NMNLSGRPYR 
       510        520        530        540        550
HIGVLGTSKL YVIRNQIFTF TPQFTDQHHF YLALDNEMIV EMLRIELAYL 
       560        570        580        590        600
CTCWRMTGRP TLTFPISRTM LTNDGSDIHS AVLSTIRKLE DGYFGGARVK 
       610        620        630        640        650
LGNLSEFLTT SFYTYLTFLD PDCDEKLFDN ASEGTFSPDS DSDLVGYLED 
       660        670        680        690        700
TCNQESQDEL DHYINHLLQS TSLRSYLPPL CKNTEDRHVF SAIHSTRDIL 
       710        720        730        740        750
SVMAKAKGLE VPFVPMTLPT KVLSAHRKSL NLVDSPQPLL EKVPESDFQW 
       760        770        780        790        800
PRDDHGDVDC EKLVEQLKDC SNLQDQADIL YILYVIKGPS WDTNLSGQHG 
       810        820        830        840        850
VTVQNLLGEL YGKAGLNQEW GLIRYISGLL RKKVEVLAEA CTDLLSHQKQ 
       860        870        880        890        900
LTVGLPPEPR EKIISAPLPP EELTKLIYEA SGQDISIAVL TQEIVVYLAM 
       910        920        930        940        950
YVRAQPSLFV EMLRLRIGLI IQVMATELAR SLNCSGEEAS ESLMNLSPFD 
       960        970        980        990       1000
MKNLLHHILS GKEFGVERSV RPIHSSTSSP TISIHEVGHT GVTKTERSGI 
      1010       1020       1030       1040       1050
NRLRSEMKQM TRRFSADEQF FSVGQAASSS AHSSKSARSS TPSSPTGTSS 
      1060       1070       1080       1090       1100
SDSGGHHIGW GERQGQWLRR RRLDGAINRV PVGFYQRVWK ILQKCHGLSI 
      1110       1120       1130       1140       1150
DGYVLPSSTT REMTPHEIKF AVHVESVLNR VPQPEYRQLL VEAIMVLTLL 
      1160       1170       1180       1190       1200
SDTEMTSIGG IIHVDQIVQM ASQLFLQDQV SIGAMDTLEK DQATGICHFF 
      1210       1220       1230 
YDSAPSGAYG TMTYLTRAVA SYLQELLPNS GCQMQ

Length:1,235

Mass (Da):138,408

Last modified:November 1, 1995 - v1

Checksum:ⁱ6CA10CFFA86A582A

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	527	Q → E in AAH14036 (PubMed:15489334).Curated		1
Sequence conflictⁱ	756	G → S in AAH14036 (PubMed:15489334).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_024563	38	E → Q. Corresponds to variant dbSNP:rs17313469EnsemblClinVar.	1
Natural variantⁱVAR_062393	120	T → TYNTAT in GSD9A.	1
Natural variantⁱVAR_006177	132	H → P in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852291EnsemblClinVar.	1
Natural variantⁱVAR_006178	132	H → Y in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852292EnsemblClinVar.	1
Natural variantⁱVAR_006179	141	Missing in GSD9A; type 1. 1 Publication	1
Natural variantⁱVAR_006180	186	R → C in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852294EnsemblClinVar.	1
Natural variantⁱVAR_006181	186	R → H in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852290EnsemblClinVar.	1
Natural variantⁱVAR_012270	189 – 190	Missing in GSD9A; type 2. 1 Publication	2
Natural variantⁱVAR_012269	189	K → E in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852295EnsemblClinVar.	1
Natural variantⁱVAR_012271	193	G → V in GSD9A; type 2. 1 Publication	1
Natural variantⁱVAR_006182	251	Missing in GSD9A; type 2. 1 Publication	1
Natural variantⁱVAR_012272	295	R → H in GSD9A; type 1 and type 2. 1 PublicationCorresponds to variant dbSNP:rs797044877EnsemblClinVar.	1
Natural variantⁱVAR_006183	299	D → G in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852289EnsemblClinVar.	1
Natural variantⁱVAR_012273	399	P → S in GSD9A; type 1. 1 Publication	1
Natural variantⁱVAR_050518	416	G → R. Corresponds to variant dbSNP:rs16980929EnsemblClinVar.	1
Natural variantⁱVAR_062394	498	P → L in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs199792389EnsemblClinVar.	1
Natural variantⁱVAR_012274	818 – 825	Missing in GSD9A; type 1. 1 Publication	8
Natural variantⁱVAR_062395	869	P → R in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs777137574Ensembl.	1
Natural variantⁱVAR_062396	916	R → W in GSD9A. 1 Publication	1
Natural variantⁱVAR_012275	953 – 954	NL → I in GSD9A; type 1.	2
Natural variantⁱVAR_062397	1070	Missing in GSD9A. 1 Publication	1
Natural variantⁱVAR_006184	1111	R → RTR in GSD9A; type 2.	1
Natural variantⁱVAR_062398	1113	M → I in GSD9A. 1 Publication	1
Natural variantⁱVAR_006185	1114	T → I in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852293EnsemblClinVar.	1
Natural variantⁱVAR_012276	1125	E → K in GSD9A; type 1. 1 Publication	1
Natural variantⁱVAR_006186	1205	P → L in GSD9A; type 1. 1 PublicationCorresponds to variant dbSNP:rs137852288EnsemblClinVar.	1
Natural variantⁱVAR_012277	1207	G → W in GSD9A; type 1. 1 Publication	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X80497 mRNA Translation: CAA56662.1 D38616 mRNA Translation: BAA07606.1 AF044572 AF044571 Genomic DNA Translation: AAD32846.1 AK289996 mRNA Translation: BAF82685.1 AL096700 Genomic DNA No translation available. AL732509 Genomic DNA No translation available. CH471074 Genomic DNA Translation: EAW98951.1 BC014036 mRNA Translation: AAH14036.1 Y15154 Genomic DNA Translation: CAA75421.1 X73875 mRNA Translation: CAA52084.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14190.1
NCBI Reference Sequences More...RefSeqⁱ	NP_000283.1, NM_000292.2
UniGeneⁱ	Hs.54941

Genome annotation databases

Ensemblⁱ	ENST00000379942; ENSP00000369274; ENSG00000044446
GeneIDⁱ	5256
KEGGⁱ	hsa:5256
UCSC genome browser More...UCSCⁱ	uc004cyv.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P46019	phosphorylase b kinase regulatory subunit alpha, liver isoform		LIPVE		1240	UniRef90_P46019
Phosphorylase b kinase regulatory subunit		Florida manatee		1237
Phosphorylase b kinase regulatory subunit		LOXAF		1236
Phosphorylase b kinase regulatory subunit		PTEAL		1236
Phosphorylase b kinase regulatory subunit		PANTR		1235
+74

Protein	Similar proteins		Species	Score	Length	Source
P46019	Phosphorylase b kinase regulatory subunit alpha, liver isoform		RABIT		1235	UniRef50_P46019
Phosphorylase b kinase regulatory subunit alpha, liver isoform		MOUSE		1235
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform		RAT		1242
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform		HUMAN		1223
phosphorylase b kinase regulatory subunit alpha, liver isoform		LIPVE		1240
+1031

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X80497 mRNA Translation: CAA56662.1 D38616 mRNA Translation: BAA07606.1 AF044572 AF044571 Genomic DNA Translation: AAD32846.1 AK289996 mRNA Translation: BAF82685.1 AL096700 Genomic DNA No translation available. AL732509 Genomic DNA No translation available. CH471074 Genomic DNA Translation: EAW98951.1 BC014036 mRNA Translation: AAH14036.1 Y15154 Genomic DNA Translation: CAA75421.1 X73875 mRNA Translation: CAA52084.1
CCDSⁱ	CCDS14190.1
RefSeqⁱ	NP_000283.1, NM_000292.2
UniGeneⁱ	Hs.54941

3D structure databases

ProteinModelPortalⁱ	P46019
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	111274, 27 interactors
IntActⁱ	P46019, 14 interactors
MINTⁱ	P46019
STRINGⁱ	9606.ENSP00000369274

Chemistry databases

ChEMBLⁱ	CHEMBL2111324

ChEMBLⁱ

CHEMBL2111324

PTM databases

iPTMnetⁱ	P46019
PhosphoSitePlusⁱ	P46019

Polymorphism and mutation databases

BioMutaⁱ	PHKA2
DMDMⁱ	1170685

Proteomic databases

EPDⁱ	P46019
MaxQBⁱ	P46019
PaxDbⁱ	P46019
PeptideAtlasⁱ	P46019
PRIDEⁱ	P46019
ProteomicsDBⁱ	55707

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	5256
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000379942; ENSP00000369274; ENSG00000044446
GeneIDⁱ	5256
KEGGⁱ	hsa:5256
UCSCⁱ	uc004cyv.5 human

Organism-specific databases

CTDⁱ	5256
DisGeNETⁱ	5256
EuPathDBⁱ	HostDB:ENSG00000044446.11
GeneCardsⁱ	PHKA2
GeneReviewsⁱ	PHKA2
H-InvDBⁱ	HIX0176778
HGNCⁱ	HGNC:8926 PHKA2
HPAⁱ	HPA002912
MalaCardsⁱ	PHKA2
MIMⁱ	300798 gene 306000 phenotype
neXtProtⁱ	NX_P46019
OpenTargetsⁱ	ENSG00000044446
Orphanetⁱ	264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
PharmGKBⁱ	PA33267
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3635 Eukaryota ENOG410XPJZ LUCA
GeneTreeⁱ	ENSGT00520000055553
HOGENOMⁱ	HOG000231478
HOVERGENⁱ	HBG000273
InParanoidⁱ	P46019
KOⁱ	K07190
OMAⁱ	HVPQPEY
OrthoDBⁱ	EOG091G00NN
PhylomeDBⁱ	P46019
TreeFamⁱ	TF313970

Enzyme and pathway databases

UniPathwayⁱ	UPA00163
BioCycⁱ	MetaCyc:HS00576-MONOMER
BRENDAⁱ	2.7.11.19 2681
Reactomeⁱ	R-HSA-70221 Glycogen breakdown (glycogenolysis)

Miscellaneous databases

ChiTaRSⁱ	PHKA2 human
GeneWikiⁱ	PHKA2
GenomeRNAiⁱ	5256
Protein Ontology More...PROⁱ	PR:P46019
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000044446 Expressed in 212 organ(s), highest expression level in right lobe of liver
CleanExⁱ	HS_PHKA2
Genevisibleⁱ	P46019 HS

Family and domain databases

Gene3Dⁱ	1.50.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR008928 6-hairpin_glycosidase_sf IPR012341 6hp_glycosidase-like_sf IPR011613 GH15-like IPR008734 PHK_A/B_su
PANTHERⁱ	PTHR10749 PTHR10749, 1 hit
Pfamⁱ	View protein in Pfam PF00723 Glyco_hydro_15, 1 hit
SUPFAMⁱ	SSF48208 SSF48208, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	KPB2_HUMAN
Accessionⁱ	P46019Primary (citable) accession number: P46019 Secondary accession number(s): A8K1T1 , Q6LAJ5, Q7Z6W0, Q96CR3, Q9UDA1
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
	Last sequence update:	November 1, 1995
	Last modified:	September 12, 2018
	This is version 184 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
PATHWAY comments
Index of metabolic and biosynthesis pathways
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P46019 (KPB2_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Phosphorylase b kinase regulatory subunit alpha, liver isoform

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glycogen metabolism

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Cytosol

Plasma Membrane

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

Pathwayⁱ: glycogen metabolism

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ