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UniProtKB - P46019 (KPB2_HUMAN)

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Protein

Phosphorylase b kinase regulatory subunit alpha, liver isoform

Gene

PHKA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • calmodulin binding Source: UniProtKB-KW
  • phosphorylase kinase activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • cellular protein modification process Source: ProtInc
  • generation of precursor metabolites and energy Source: ProtInc
  • glycogen metabolic process Source: UniProtKB-UniPathway
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalmodulin-binding
Biological processCarbohydrate metabolism, Glycogen metabolism

Enzyme and pathway databases

BioCyciMetaCyc: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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000044446.11
HGNCiHGNC:8926 PHKA2
MIMi300798 gene
neXtProtiNX_P46019

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs137852291EnsemblClinVar.1
Natural variantiVAR_006178132H → Y in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852292EnsemblClinVar.1
Natural variantiVAR_006179141Missing in GSD9A; type 1. 1 Publication1
Natural variantiVAR_006180186R → C in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852294EnsemblClinVar.1
Natural variantiVAR_006181186R → H in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852290EnsemblClinVar.1
Natural variantiVAR_012270189 – 190Missing in GSD9A; type 2. 1 Publication2
Natural variantiVAR_012269189K → E in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852295EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs797044877EnsemblClinVar.1
Natural variantiVAR_006183299D → G in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852289EnsemblClinVar.1
Natural variantiVAR_012273399P → S in GSD9A; type 1. 1 Publication1
Natural variantiVAR_062394498P → L in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs199792389EnsemblClinVar.1
Natural variantiVAR_012274818 – 825Missing in GSD9A; type 1. 1 Publication8
Natural variantiVAR_062395869P → R in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs777137574Ensembl.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 dbSNP:rs137852293EnsemblClinVar.1
Natural variantiVAR_0122761125E → K in GSD9A; type 1. 1 Publication1
Natural variantiVAR_0061861205P → L in GSD9A; type 1. 1 PublicationCorresponds to variant dbSNP:rs137852288EnsemblClinVar.1
Natural variantiVAR_0122771207G → W in GSD9A; type 1. 1 Publication1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi5256
GeneReviewsiPHKA2
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
ProteomicsDBi55707

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111274, 27 interactors
IntActiP46019, 14 interactors
MINTiP46019
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

Belongs to the phosphorylase b kinase regulatory chain family.Curated

Phylogenomic databases

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

Family and domain databases

Gene3Di1.50.10.10, 1 hit
InterProiView protein in InterPro
IPR008928 6-hairpin_glycosidase_sf
IPR012341 6hp_glycosidase-like_sf
IPR011613 GH15-like
IPR008734 PHK_A/B_su
PANTHERiPTHR10749 PTHR10749, 1 hit
PfamiView protein in Pfam
PF00723 Glyco_hydro_15, 1 hit
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 dbSNP:rs17313469EnsemblClinVar.1
Natural variantiVAR_062393120T → TYNTAT in GSD9A. 1
Natural variantiVAR_006177132H → P in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852291EnsemblClinVar.1
Natural variantiVAR_006178132H → Y in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852292EnsemblClinVar.1
Natural variantiVAR_006179141Missing in GSD9A; type 1. 1 Publication1
Natural variantiVAR_006180186R → C in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852294EnsemblClinVar.1
Natural variantiVAR_006181186R → H in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852290EnsemblClinVar.1
Natural variantiVAR_012270189 – 190Missing in GSD9A; type 2. 1 Publication2
Natural variantiVAR_012269189K → E in GSD9A; type 2. 1 PublicationCorresponds to variant dbSNP:rs137852295EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs797044877EnsemblClinVar.1
Natural variantiVAR_006183299D → G in GSD9A; type 2. 2 PublicationsCorresponds to variant dbSNP:rs137852289EnsemblClinVar.1
Natural variantiVAR_012273399P → S in GSD9A; type 1. 1 Publication1
Natural variantiVAR_050518416G → R. Corresponds to variant dbSNP:rs16980929EnsemblClinVar.1
Natural variantiVAR_062394498P → L in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs199792389EnsemblClinVar.1
Natural variantiVAR_012274818 – 825Missing in GSD9A; type 1. 1 Publication8
Natural variantiVAR_062395869P → R in GSD9A. 1 PublicationCorresponds to variant dbSNP:rs777137574Ensembl.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 dbSNP:rs137852293EnsemblClinVar.1
Natural variantiVAR_0122761125E → K in GSD9A; type 1. 1 Publication1
Natural variantiVAR_0061861205P → L in GSD9A; type 1. 1 PublicationCorresponds to variant dbSNP:rs137852288EnsemblClinVar.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 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
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

Similar proteinsi

Entry informationi

Entry nameiKPB2_HUMAN
AccessioniPrimary (citable) accession number: P46019
Secondary accession number(s): A8K1T1
, Q6LAJ5, Q7Z6W0, Q96CR3, Q9UDA1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: June 20, 2018
This is version 183 of the entry and version 1 of the sequence. See 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

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