UniProtKB - P46020 (KPB1_HUMAN)
Protein
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
Gene
PHKA1
Organism
Homo sapiens (Human)
Status
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. Allosteric regulation by calcium.
: glycogen metabolism Pathwayi
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 catabolic process Source: Reactome
- glycogen metabolic process Source: ProtInc
Keywordsi
Molecular function | Calmodulin-binding, Muscle protein |
Biological process | Carbohydrate metabolism, Glycogen metabolism |
Enzyme and pathway databases
BioCyci | MetaCyc:HS00901-MONOMER |
BRENDAi | 2.7.11.19, 2681 |
PathwayCommonsi | P46020 |
Reactomei | R-HSA-70221, Glycogen breakdown (glycogenolysis) |
SIGNORi | P46020 |
UniPathwayi | UPA00163 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoformShort name: Phosphorylase kinase alpha M subunit |
Gene namesi | Name:PHKA1 Synonyms:PHKA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000067177.14 |
HGNCi | HGNC:8925, PHKA1 |
MIMi | 311870, gene |
neXtProti | NX_P46020 |
Subcellular locationi
Plasma membrane
- Cell membrane Curated; Lipid-anchor Curated; Cytoplasmic side Curated
Cytosol
- cytosol Source: Reactome
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- phosphorylase kinase complex Source: GO_Central
Keywords - Cellular componenti
Cell membrane, MembranePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020856 | 299 | D → V in GSD9D. 1 PublicationCorresponds to variant dbSNP:rs137852547EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Glycogen storage diseaseOrganism-specific databases
DisGeNETi | 5255 |
GeneReviewsi | PHKA1 |
MalaCardsi | PHKA1 |
MIMi | 300559, phenotype |
OpenTargetsi | ENSG00000067177 |
Orphaneti | 715, Glycogen storage disease due to muscle phosphorylase kinase deficiency |
PharmGKBi | PA33266 |
Miscellaneous databases
Pharosi | P46020, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2111324 |
Polymorphism and mutation databases
BioMutai | PHKA1 |
DMDMi | 110282976 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000057726 | 1 – 1223 | Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoformAdd BLAST | 1223 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 629 | PhosphoserineBy similarity | 1 | |
Modified residuei | 729 | PhosphoserineCombined sources | 1 | |
Modified residuei | 735 | PhosphoserineCombined sources | 1 | |
Modified residuei | 758 | PhosphoserineCombined sources | 1 | |
Modified residuei | 972 | PhosphoserineCombined sources | 1 | |
Modified residuei | 981 | PhosphoserineCombined sources | 1 | |
Modified residuei | 985 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1007 | Phosphoserine; by autocatalysisBy similarity | 1 | |
Modified residuei | 1018 | Phosphoserine; by PKABy similarity | 1 | |
Modified residuei | 1020 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1023 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1113 | PhosphoserineBy similarity | 1 | |
Lipidationi | 1220 | 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, PrenylationProteomic databases
EPDi | P46020 |
jPOSTi | P46020 |
MassIVEi | P46020 |
MaxQBi | P46020 |
PaxDbi | P46020 |
PeptideAtlasi | P46020 |
PRIDEi | P46020 |
ProteomicsDBi | 55708 [P46020-1] 55709 [P46020-2] 55710 [P46020-3] |
TopDownProteomicsi | P46020-2 [P46020-2] |
PTM databases
iPTMneti | P46020 |
MetOSitei | P46020 |
PhosphoSitePlusi | P46020 |
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
Bgeei | ENSG00000067177, Expressed in gastrocnemius and 191 other tissues |
ExpressionAtlasi | P46020, baseline and differential |
Genevisiblei | P46020, HS |
Organism-specific databases
HPAi | ENSG00000067177, Tissue enhanced (skeletal) |
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
GO - Molecular functioni
- calmodulin binding Source: UniProtKB-KW
Protein-protein interaction databases
BioGRIDi | 111273, 18 interactors |
CORUMi | P46020 |
IntActi | P46020, 9 interactors |
STRINGi | 9606.ENSP00000362643 |
Miscellaneous databases
RNActi | P46020, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 810 – 840 | Calmodulin-bindingSequence analysisAdd BLAST | 31 | |
Regioni | 1046 – 1086 | Calmodulin-bindingSequence analysisAdd BLAST | 41 |
Sequence similaritiesi
Belongs to the phosphorylase b kinase regulatory chain family.Curated
Phylogenomic databases
eggNOGi | KOG3635, Eukaryota |
GeneTreei | ENSGT00950000183118 |
HOGENOMi | CLU_004177_1_0_1 |
InParanoidi | P46020 |
OrthoDBi | 55049at2759 |
PhylomeDBi | P46020 |
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 |
Pfami | View protein in Pfam PF00723, Glyco_hydro_15, 1 hit |
SUPFAMi | SSF48208, SSF48208, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P46020-1) [UniParc]FASTAAdd to basket
Also known as: AC
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA6NMN0 | A6NMN0_HUMAN | Phosphorylase b kinase regulatory s... | PHKA1 | 1,240 | Annotation score: | ||
A6NIT2 | A6NIT2_HUMAN | Phosphorylase b kinase regulatory s... | PHKA1 | 1,181 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 568 | H → Y in CAA52083 (PubMed:8226841).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020856 | 299 | D → V in GSD9D. 1 PublicationCorresponds to variant dbSNP:rs137852547EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042517 | 654 – 713 | ARCGD…LHVQN → D in isoform 3. 1 PublicationAdd BLAST | 60 | |
Alternative sequenceiVSP_042518 | 1011 – 1023 | Missing in isoform 3. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_004697 | 1012 – 1024 | Missing in isoform 2. 2 PublicationsAdd BLAST | 13 |
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 |
CCDSi | CCDS14421.1 [P46020-1] CCDS48137.1 [P46020-2] CCDS55453.1 [P46020-3] |
PIRi | I38111 |
RefSeqi | NP_001116142.1, NM_001122670.1 [P46020-2] NP_001165907.1, NM_001172436.1 [P46020-3] NP_002628.2, NM_002637.3 [P46020-1] |
Genome annotation databases
Ensembli | ENST00000339490; ENSP00000342469; ENSG00000067177 [P46020-2] ENST00000373542; ENSP00000362643; ENSG00000067177 [P46020-1] ENST00000541944; ENSP00000441251; ENSG00000067177 [P46020-3] |
GeneIDi | 5255 |
KEGGi | hsa:5255 |
UCSCi | uc004eax.5, human [P46020-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS14421.1 [P46020-1] CCDS48137.1 [P46020-2] CCDS55453.1 [P46020-3] |
PIRi | I38111 |
RefSeqi | NP_001116142.1, NM_001122670.1 [P46020-2] NP_001165907.1, NM_001172436.1 [P46020-3] NP_002628.2, NM_002637.3 [P46020-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 111273, 18 interactors |
CORUMi | P46020 |
IntActi | P46020, 9 interactors |
STRINGi | 9606.ENSP00000362643 |
Chemistry databases
ChEMBLi | CHEMBL2111324 |
PTM databases
iPTMneti | P46020 |
MetOSitei | P46020 |
PhosphoSitePlusi | P46020 |
Polymorphism and mutation databases
BioMutai | PHKA1 |
DMDMi | 110282976 |
Proteomic databases
EPDi | P46020 |
jPOSTi | P46020 |
MassIVEi | P46020 |
MaxQBi | P46020 |
PaxDbi | P46020 |
PeptideAtlasi | P46020 |
PRIDEi | P46020 |
ProteomicsDBi | 55708 [P46020-1] 55709 [P46020-2] 55710 [P46020-3] |
TopDownProteomicsi | P46020-2 [P46020-2] |
Protocols and materials databases
Antibodypediai | 339, 96 antibodies |
DNASUi | 5255 |
Genome annotation databases
Ensembli | ENST00000339490; ENSP00000342469; ENSG00000067177 [P46020-2] ENST00000373542; ENSP00000362643; ENSG00000067177 [P46020-1] ENST00000541944; ENSP00000441251; ENSG00000067177 [P46020-3] |
GeneIDi | 5255 |
KEGGi | hsa:5255 |
UCSCi | uc004eax.5, human [P46020-1] |
Organism-specific databases
CTDi | 5255 |
DisGeNETi | 5255 |
EuPathDBi | HostDB:ENSG00000067177.14 |
GeneCardsi | PHKA1 |
GeneReviewsi | PHKA1 |
HGNCi | HGNC:8925, PHKA1 |
HPAi | ENSG00000067177, Tissue enhanced (skeletal) |
MalaCardsi | PHKA1 |
MIMi | 300559, phenotype 311870, gene |
neXtProti | NX_P46020 |
OpenTargetsi | ENSG00000067177 |
Orphaneti | 715, Glycogen storage disease due to muscle phosphorylase kinase deficiency |
PharmGKBi | PA33266 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3635, Eukaryota |
GeneTreei | ENSGT00950000183118 |
HOGENOMi | CLU_004177_1_0_1 |
InParanoidi | P46020 |
OrthoDBi | 55049at2759 |
PhylomeDBi | P46020 |
TreeFami | TF313970 |
Enzyme and pathway databases
UniPathwayi | UPA00163 |
BioCyci | MetaCyc:HS00901-MONOMER |
BRENDAi | 2.7.11.19, 2681 |
PathwayCommonsi | P46020 |
Reactomei | R-HSA-70221, Glycogen breakdown (glycogenolysis) |
SIGNORi | P46020 |
Miscellaneous databases
BioGRID-ORCSi | 5255, 1 hit in 466 CRISPR screens |
ChiTaRSi | PHKA1, human |
GeneWikii | Phosphorylase_kinase,_alpha_1 |
GenomeRNAii | 5255 |
Pharosi | P46020, Tbio |
PROi | PR:P46020 |
RNActi | P46020, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000067177, Expressed in gastrocnemius and 191 other tissues |
ExpressionAtlasi | P46020, baseline and differential |
Genevisiblei | P46020, 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... |
MobiDBi | Search... |
Entry informationi
Entry namei | KPB1_HUMAN | |
Accessioni | P46020Primary (citable) accession number: P46020 Secondary accession number(s): B7ZL05, B7ZL07, Q2M3D7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1995 |
Last sequence update: | July 11, 2006 | |
Last modified: | December 2, 2020 | |
This is version 183 of the entry and version 2 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - 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