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Protein

Phosphorylase b kinase regulatory subunit alpha, liver isoform

Gene

PHKA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Enzyme 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

  • phosphorylase kinase activity Source: ProtInc

GO - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • cellular protein modification process Source: ProtInc
  • generation of precursor metabolites and energy Source: ProtInc
  • glycogen catabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Carbohydrate metabolism, Glycogen metabolism

Keywords - Ligandi

Calmodulin-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00576-MONOMER.
ZFISH:HS00576-MONOMER.
BRENDAi2.7.11.19. 2681.
ReactomeiR-HSA-70221. Glycogen breakdown (glycogenolysis).
UniPathwayiUPA00163.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:8926. PHKA2.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • phosphorylase kinase complex Source: ProtInc
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

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.
See also OMIM:306000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062393120T → TYNTAT in GSD9A. 1
Natural variantiVAR_006177132H → P in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852291dbSNPEnsembl.1
Natural variantiVAR_006178132H → Y in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852292dbSNPEnsembl.1
Natural variantiVAR_006179141Missing in GSD9A; type 1. 1 Publication1
Natural variantiVAR_006180186R → C in GSD9A; type 2. 2 PublicationsCorresponds to variant rs137852294dbSNPEnsembl.1
Natural variantiVAR_006181186R → H in GSD9A; type 2. 2 PublicationsCorresponds to variant rs137852290dbSNPEnsembl.1
Natural variantiVAR_012270189 – 190Missing in GSD9A; type 2. 1 Publication2
Natural variantiVAR_012269189K → E in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852295dbSNPEnsembl.1
Natural variantiVAR_012271193G → V in GSD9A; type 2. 1 Publication1
Natural variantiVAR_006182251Missing in GSD9A; type 2. 1 Publication1
Natural variantiVAR_012272295R → H in GSD9A; type 1 and type 2. 1 Publication1
Natural variantiVAR_006183299D → G in GSD9A; type 2. 2 PublicationsCorresponds to variant rs137852289dbSNPEnsembl.1
Natural variantiVAR_012273399P → S in GSD9A; type 1. 1 Publication1
Natural variantiVAR_062394498P → L in GSD9A. 1 PublicationCorresponds to variant rs199792389dbSNPEnsembl.1
Natural variantiVAR_012274818 – 825Missing in GSD9A; type 1. 1 Publication8
Natural variantiVAR_062395869P → R in GSD9A. 1 PublicationCorresponds to variant rs777137574dbSNPEnsembl.1
Natural variantiVAR_062396916R → W in GSD9A. 1 Publication1
Natural variantiVAR_012275953 – 954NL → I in GSD9A; type 1. 2
Natural variantiVAR_0623971070Missing in GSD9A. 1 Publication1
Natural variantiVAR_0061841111R → RTR in GSD9A; type 2. 1
Natural variantiVAR_0623981113M → I in GSD9A. 1 Publication1
Natural variantiVAR_0061851114T → I in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852293dbSNPEnsembl.1
Natural variantiVAR_0122761125E → K in GSD9A; type 1. 1 Publication1
Natural variantiVAR_0061861205P → L in GSD9A; type 1. 1 PublicationCorresponds to variant rs137852288dbSNPEnsembl.1
Natural variantiVAR_0122771207G → W in GSD9A; type 1. 1 Publication1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi5256.
MalaCardsiPHKA2.
MIMi306000. phenotype.
OpenTargetsiENSG00000044446.
Orphaneti264580. Glycogen storage disease due to liver phosphorylase kinase deficiency.
PharmGKBiPA33267.

Chemistry databases

ChEMBLiCHEMBL2111324.

Polymorphism and mutation databases

BioMutaiPHKA2.
DMDMi1170685.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000577301 – 1235Phosphorylase b kinase regulatory subunit alpha, liver isoformAdd BLAST1235

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei695PhosphoserineCombined sources1
Modified residuei729PhosphoserineCombined sources1
Modified residuei735PhosphoserineCombined sources1
Modified residuei983PhosphoserineCombined sources1
Modified residuei1015PhosphoserineCombined sources1
Modified residuei1044PhosphoserineCombined sources1
Lipidationi1232S-farnesyl cysteineBy similarity1

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

EPDiP46019.
MaxQBiP46019.
PaxDbiP46019.
PeptideAtlasiP46019.
PRIDEiP46019.

PTM databases

iPTMnetiP46019.
PhosphoSitePlusiP46019.

Expressioni

Tissue specificityi

Predominantly expressed in liver and other non-muscle tissues.

Gene expression databases

BgeeiENSG00000044446.
CleanExiHS_PHKA2.
GenevisibleiP46019. HS.

Organism-specific databases

HPAiHPA002912.

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

WithEntry#Exp.IntActNotes
PHKG2P157354EBI-1642846,EBI-1383819

Protein-protein interaction databases

BioGridi111274. 24 interactors.
IntActiP46019. 13 interactors.
MINTiMINT-1185164.
STRINGi9606.ENSP00000369274.

Structurei

3D structure databases

ProteinModelPortaliP46019.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni807 – 837Calmodulin-bindingSequence analysisAdd BLAST31
Regioni1059 – 1099Calmodulin-bindingSequence analysisAdd BLAST41

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3635. Eukaryota.
ENOG410XPJZ. LUCA.
GeneTreeiENSGT00520000055553.
HOGENOMiHOG000231478.
HOVERGENiHBG000273.
InParanoidiP46019.
KOiK07190.
OMAiYCYLILF.
OrthoDBiEOG091G00NN.
PhylomeDBiP46019.
TreeFamiTF313970.

Family and domain databases

Gene3Di1.50.10.10. 1 hit.
InterProiIPR008928. 6-hairpin_glycosidase-like.
IPR012341. 6hp_glycosidase.
IPR011613. Glyco_hydro_15/PHK.
IPR008734. PHK_A/B_su.
[Graphical view]
PANTHERiPTHR10749. PTHR10749. 2 hits.
PfamiPF00723. Glyco_hydro_15. 1 hit.
[Graphical view]
SUPFAMiSSF48208. SSF48208. 1 hit.

Sequencei

Sequence statusi: Complete.

P46019-1 [UniParc]FASTAAdd 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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti527Q → E in AAH14036 (PubMed:15489334).Curated1
Sequence conflicti756G → S in AAH14036 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02456338E → Q.Corresponds to variant rs17313469dbSNPEnsembl.1
Natural variantiVAR_062393120T → TYNTAT in GSD9A. 1
Natural variantiVAR_006177132H → P in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852291dbSNPEnsembl.1
Natural variantiVAR_006178132H → Y in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852292dbSNPEnsembl.1
Natural variantiVAR_006179141Missing in GSD9A; type 1. 1 Publication1
Natural variantiVAR_006180186R → C in GSD9A; type 2. 2 PublicationsCorresponds to variant rs137852294dbSNPEnsembl.1
Natural variantiVAR_006181186R → H in GSD9A; type 2. 2 PublicationsCorresponds to variant rs137852290dbSNPEnsembl.1
Natural variantiVAR_012270189 – 190Missing in GSD9A; type 2. 1 Publication2
Natural variantiVAR_012269189K → E in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852295dbSNPEnsembl.1
Natural variantiVAR_012271193G → V in GSD9A; type 2. 1 Publication1
Natural variantiVAR_006182251Missing in GSD9A; type 2. 1 Publication1
Natural variantiVAR_012272295R → H in GSD9A; type 1 and type 2. 1 Publication1
Natural variantiVAR_006183299D → G in GSD9A; type 2. 2 PublicationsCorresponds to variant rs137852289dbSNPEnsembl.1
Natural variantiVAR_012273399P → S in GSD9A; type 1. 1 Publication1
Natural variantiVAR_050518416G → R.Corresponds to variant rs16980929dbSNPEnsembl.1
Natural variantiVAR_062394498P → L in GSD9A. 1 PublicationCorresponds to variant rs199792389dbSNPEnsembl.1
Natural variantiVAR_012274818 – 825Missing in GSD9A; type 1. 1 Publication8
Natural variantiVAR_062395869P → R in GSD9A. 1 PublicationCorresponds to variant rs777137574dbSNPEnsembl.1
Natural variantiVAR_062396916R → W in GSD9A. 1 Publication1
Natural variantiVAR_012275953 – 954NL → I in GSD9A; type 1. 2
Natural variantiVAR_0623971070Missing in GSD9A. 1 Publication1
Natural variantiVAR_0061841111R → RTR in GSD9A; type 2. 1
Natural variantiVAR_0623981113M → I in GSD9A. 1 Publication1
Natural variantiVAR_0061851114T → I in GSD9A; type 2. 1 PublicationCorresponds to variant rs137852293dbSNPEnsembl.1
Natural variantiVAR_0122761125E → K in GSD9A; type 1. 1 Publication1
Natural variantiVAR_0061861205P → L in GSD9A; type 1. 1 PublicationCorresponds to variant rs137852288dbSNPEnsembl.1
Natural variantiVAR_0122771207G → W in GSD9A; type 1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X80497 mRNA. Translation: CAA56662.1.
D38616 mRNA. Translation: BAA07606.1.
AF044572
, AF044540, AF044541, AF044542, AF044543, AF044544, AF044545, AF044546, AF044547, AF044548, AF044549, AF044550, AF044551, AF044552, AF044553, AF044554, AF044555, AF044556, AF044557, AF044558, AF044559, AF044560, AF044561, AF044562, AF044563, AF044564, AF044565, AF044566, AF044567, AF044568, AF044569, AF044570, AF044571 Genomic DNA. Translation: AAD32846.1.
AK289996 mRNA. Translation: BAF82685.1.
AL096700, AL732509 Genomic DNA. Translation: CAB86408.2.
AL732509, AL096700 Genomic DNA. Translation: CAI41680.1.
CH471074 Genomic DNA. Translation: EAW98951.1.
BC014036 mRNA. Translation: AAH14036.1.
Y15154 Genomic DNA. Translation: CAA75421.1.
X73875 mRNA. Translation: CAA52084.1.
CCDSiCCDS14190.1.
RefSeqiNP_000283.1. NM_000292.2.
UniGeneiHs.54941.

Genome annotation databases

EnsembliENST00000379942; ENSP00000369274; ENSG00000044446.
GeneIDi5256.
KEGGihsa:5256.
UCSCiuc004cyv.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X80497 mRNA. Translation: CAA56662.1.
D38616 mRNA. Translation: BAA07606.1.
AF044572
, AF044540, AF044541, AF044542, AF044543, AF044544, AF044545, AF044546, AF044547, AF044548, AF044549, AF044550, AF044551, AF044552, AF044553, AF044554, AF044555, AF044556, AF044557, AF044558, AF044559, AF044560, AF044561, AF044562, AF044563, AF044564, AF044565, AF044566, AF044567, AF044568, AF044569, AF044570, AF044571 Genomic DNA. Translation: AAD32846.1.
AK289996 mRNA. Translation: BAF82685.1.
AL096700, AL732509 Genomic DNA. Translation: CAB86408.2.
AL732509, AL096700 Genomic DNA. Translation: CAI41680.1.
CH471074 Genomic DNA. Translation: EAW98951.1.
BC014036 mRNA. Translation: AAH14036.1.
Y15154 Genomic DNA. Translation: CAA75421.1.
X73875 mRNA. Translation: CAA52084.1.
CCDSiCCDS14190.1.
RefSeqiNP_000283.1. NM_000292.2.
UniGeneiHs.54941.

3D structure databases

ProteinModelPortaliP46019.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111274. 24 interactors.
IntActiP46019. 13 interactors.
MINTiMINT-1185164.
STRINGi9606.ENSP00000369274.

Chemistry databases

ChEMBLiCHEMBL2111324.

PTM databases

iPTMnetiP46019.
PhosphoSitePlusiP46019.

Polymorphism and mutation databases

BioMutaiPHKA2.
DMDMi1170685.

Proteomic databases

EPDiP46019.
MaxQBiP46019.
PaxDbiP46019.
PeptideAtlasiP46019.
PRIDEiP46019.

Protocols and materials databases

DNASUi5256.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379942; ENSP00000369274; ENSG00000044446.
GeneIDi5256.
KEGGihsa:5256.
UCSCiuc004cyv.5. human.

Organism-specific databases

CTDi5256.
DisGeNETi5256.
GeneCardsiPHKA2.
GeneReviewsiPHKA2.
H-InvDBHIX0176778.
HGNCiHGNC:8926. PHKA2.
HPAiHPA002912.
MalaCardsiPHKA2.
MIMi300798. gene.
306000. phenotype.
neXtProtiNX_P46019.
OpenTargetsiENSG00000044446.
Orphaneti264580. Glycogen storage disease due to liver phosphorylase kinase deficiency.
PharmGKBiPA33267.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3635. Eukaryota.
ENOG410XPJZ. LUCA.
GeneTreeiENSGT00520000055553.
HOGENOMiHOG000231478.
HOVERGENiHBG000273.
InParanoidiP46019.
KOiK07190.
OMAiYCYLILF.
OrthoDBiEOG091G00NN.
PhylomeDBiP46019.
TreeFamiTF313970.

Enzyme and pathway databases

UniPathwayiUPA00163.
BioCyciMetaCyc:HS00576-MONOMER.
ZFISH:HS00576-MONOMER.
BRENDAi2.7.11.19. 2681.
ReactomeiR-HSA-70221. Glycogen breakdown (glycogenolysis).

Miscellaneous databases

GeneWikiiPHKA2.
GenomeRNAii5256.
PROiP46019.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000044446.
CleanExiHS_PHKA2.
GenevisibleiP46019. HS.

Family and domain databases

Gene3Di1.50.10.10. 1 hit.
InterProiIPR008928. 6-hairpin_glycosidase-like.
IPR012341. 6hp_glycosidase.
IPR011613. Glyco_hydro_15/PHK.
IPR008734. PHK_A/B_su.
[Graphical view]
PANTHERiPTHR10749. PTHR10749. 2 hits.
PfamiPF00723. Glyco_hydro_15. 1 hit.
[Graphical view]
SUPFAMiSSF48208. SSF48208. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiKPB2_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 172 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.