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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

GO - Biological processi

  • generation of precursor metabolites and energy Source: ProtInc
  • glycogen metabolic process Source: ProtInc

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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

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

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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