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UniProtKB - P46020 (KPB1_HUMAN)

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Protein

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform

Gene

PHKA1

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. Allosteric regulation 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

  • generation of precursor metabolites and energy Source: ProtInc
  • glycogen metabolic process Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCalmodulin-binding, Muscle protein
Biological processCarbohydrate metabolism, Glycogen metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS00901-MONOMER
BRENDAi2.7.11.19 2681
ReactomeiR-HSA-70221 Glycogen breakdown (glycogenolysis)
SIGNORiP46020
UniPathwayiUPA00163

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
Short name:
Phosphorylase kinase alpha M subunit
Gene namesi
Name:PHKA1
Synonyms:PHKA
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:ENSG00000067177.14
HGNCiHGNC:8925 PHKA1
MIMi311870 gene
neXtProtiNX_P46020

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 9D (GSD9D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria.
See also OMIM:300559
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020856299D → V in GSD9D. 1 PublicationCorresponds to variant dbSNP:rs137852547EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi5255
GeneReviewsiPHKA1
MalaCardsiPHKA1
MIMi300559 phenotype
OpenTargetsiENSG00000067177
Orphaneti715 Glycogen storage disease due to muscle phosphorylase kinase deficiency
PharmGKBiPA33266

Chemistry databases

ChEMBLiCHEMBL2111324

Polymorphism and mutation databases

BioMutaiPHKA1
DMDMi110282976

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000577261 – 1223Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoformAdd BLAST1223

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei629PhosphoserineBy similarity1
Modified residuei729PhosphoserineCombined sources1
Modified residuei735PhosphoserineCombined sources1
Modified residuei758PhosphoserineCombined sources1
Modified residuei972PhosphoserineCombined sources1
Modified residuei981PhosphoserineCombined sources1
Modified residuei985PhosphoserineCombined sources1
Modified residuei1007Phosphoserine; by autocatalysisBy similarity1
Modified residuei1018Phosphoserine; by PKABy similarity1
Modified residuei1020PhosphoserineBy similarity1
Modified residuei1023PhosphoserineBy similarity1
Modified residuei1113PhosphoserineBy similarity1
Lipidationi1220S-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

EPDiP46020
MaxQBiP46020
PaxDbiP46020
PeptideAtlasiP46020
PRIDEiP46020
ProteomicsDBi55708
55709 [P46020-2]
55710 [P46020-3]
TopDownProteomicsiP46020-2 [P46020-2]

PTM databases

iPTMnetiP46020
PhosphoSitePlusiP46020

Expressioni

Tissue specificityi

Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested.

Gene expression databases

BgeeiENSG00000067177
CleanExiHS_PHKA1
ExpressionAtlasiP46020 baseline and differential
GenevisibleiP46020 HS

Organism-specific databases

HPAiHPA001081

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.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111273, 15 interactors
CORUMiP46020
IntActiP46020, 5 interactors
STRINGi9606.ENSP00000362643

Structurei

3D structure databases

ProteinModelPortaliP46020
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni810 – 840Calmodulin-bindingSequence analysisAdd BLAST31
Regioni1046 – 1086Calmodulin-bindingSequence analysisAdd BLAST41

Sequence similaritiesi

Belongs to the phosphorylase b kinase regulatory chain family.Curated

Phylogenomic databases

eggNOGiKOG3635 Eukaryota
ENOG410XPJZ LUCA
GeneTreeiENSGT00520000055553
HOGENOMiHOG000231478
HOVERGENiHBG000273
InParanoidiP46020
KOiK07190
PhylomeDBiP46020
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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P46020-1) [UniParc]FASTAAdd to basket
Also known as: AC

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSRSNSGVR LDGYARLVQQ TILCHQNPVT GLLPASYDQK DAWVRDNVYS 
        60         70         80         90        100
ILAVWGLGLA YRKNADRDED KAKAYELEQS VVKLMRGLLH CMIRQVDKVE 
       110        120        130        140        150
SFKYSQSTKD SLHAKYNTKT CATVVGDDQW GHLQLDATSV YLLFLAQMTA 
       160        170        180        190        200
SGLHIIHSLD EVNFIQNLVF YIEAAYKTAD FGIWERGDKT NQGISELNAS 
       210        220        230        240        250
SVGMAKAALE ALDELDLFGV KGGPQSVIHV LADEVQHCQS ILNSLLPRAS 
       260        270        280        290        300
TSKEVDASLL SVVSFPAFAV EDSQLVELTK QEIITKLQGR YGCCRFLRDG 
       310        320        330        340        350
YKTPKEDPNR LYYEPAELKL FENIECEWPL FWTYFILDGV FSGNAEQVQE 
       360        370        380        390        400
YKEALEAVLI KGKNGVPLLP ELYSVPPDRV DEEYQNPHTV DRVPMGKLPH 
       410        420        430        440        450
MWGQSLYILG SLMAEGFLAP GEIDPLNRRF STVPKPDVVV QVSILAETEE 
       460        470        480        490        500
IKTILKDKGI YVETIAEVYP IRVQPARILS HIYSSLGCNN RMKLSGRPYR 
       510        520        530        540        550
HMGVLGTSKL YDIRKTIFTF TPQFIDQQQF YLALDNKMIV EMLRTDLSYL 
       560        570        580        590        600
CSRWRMTGQP TITFPISHSM LDEDGTSLNS SILAALRKMQ DGYFGGARVQ 
       610        620        630        640        650
TGKLSEFLTT SCCTHLSFMD PGPEGKLYSE DYDDNYDYLE SGNWMNDYDS 
       660        670        680        690        700
TSHARCGDEV ARYLDHLLAH TAPHPKLAPT SQKGGLDRFQ AAVQTTCDLM 
       710        720        730        740        750
SLVTKAKELH VQNVHMYLPT KLFQASRPSF NLLDSPHPRQ ENQVPSVRVE 
       760        770        780        790        800
IHLPRDQSGE VDFKALVLQL KETSSLQEQA DILYMLYTMK GPDWNTELYN 
       810        820        830        840        850
ERSATVRELL TELYGKVGEI RHWGLIRYIS GILRKKVEAL DEACTDLLSH 
       860        870        880        890        900
QKHLTVGLPP EPREKTISAP LPYEALTQLI DEASEGDMSI SILTQEIMVY 
       910        920        930        940        950
LAMYMRTQPG LFAEMFRLRI GLIIQVMATE LAHSLRCSAE EATEGLMNLS 
       960        970        980        990       1000
PSAMKNLLHH ILSGKEFGVE RSVRPTDSNV SPAISIHEIG AVGATKTERT 
      1010       1020       1030       1040       1050
GIMQLKSEIK QVEFRRLSIS AESQSPGTSM TPSSGSFPSA YDQQSSKDSR 
      1060       1070       1080       1090       1100
QGQWQRRRRL DGALNRVPVG FYQKVWKVLQ KCHGLSVEGF VLPSSTTREM 
      1110       1120       1130       1140       1150
TPGEIKFSVH VESVLNRVPQ PEYRQLLVEA ILVLTMLADI EIHSIGSIIA 
      1160       1170       1180       1190       1200
VEKIVHIAND LFLQEQKTLG ADDTMLAKDP ASGICTLLYD SAPSGRFGTM 
      1210       1220 
TYLSKAAATY VQEFLPHSIC AMQ
Length:1,223
Mass (Da):137,312
Last modified:July 11, 2006 - v2
Checksum:i48511719C0BFE40F
GO
Isoform 2 (identifier: P46020-2) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     1012-1024: Missing.

Show »
Length:1,210
Mass (Da):135,808
Checksum:i6D79FA1069CE6D25
GO
Isoform 3 (identifier: P46020-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     654-713: ARCGDEVARYLDHLLAHTAPHPKLAPTSQKGGLDRFQAAVQTTCDLMSLVTKAKELHVQN → D
     1011-1023: Missing.

Show »
Length:1,151
Mass (Da):129,388
Checksum:iF8E38DBD42155D47
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti568H → Y in CAA52083 (PubMed:8226841).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020856299D → V in GSD9D. 1 PublicationCorresponds to variant dbSNP:rs137852547EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042517654 – 713ARCGD…LHVQN → D in isoform 3. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_0425181011 – 1023Missing in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_0046971012 – 1024Missing in isoform 2. 2 PublicationsAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X73874 mRNA Translation: CAA52083.1
BX295541 Genomic DNA No translation available.
BX295542 Genomic DNA No translation available.
BC104944 mRNA Translation: AAI04945.1
BC143499 mRNA Translation: AAI43500.1
BC143501 mRNA Translation: AAI43502.1
CCDSiCCDS14421.1 [P46020-1]
CCDS48137.1 [P46020-2]
CCDS55453.1 [P46020-3]
PIRiI38111
RefSeqiNP_001116142.1, NM_001122670.1 [P46020-2]
NP_001165907.1, NM_001172436.1 [P46020-3]
NP_002628.2, NM_002637.3 [P46020-1]
UniGeneiHs.201379

Genome annotation databases

EnsembliENST00000339490; ENSP00000342469; ENSG00000067177 [P46020-2]
ENST00000373542; ENSP00000362643; ENSG00000067177 [P46020-1]
ENST00000541944; ENSP00000441251; ENSG00000067177 [P46020-3]
GeneIDi5255
KEGGihsa:5255
UCSCiuc004eax.5 human [P46020-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiKPB1_HUMAN
AccessioniPrimary (citable) accession number: P46020
Secondary accession number(s): B7ZL05, B7ZL07, Q2M3D7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: July 11, 2006
Last modified: June 20, 2018
This is version 168 of the entry and version 2 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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