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Entry version 183 (02 Dec 2020)
Sequence version 2 (11 Jul 2006)
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Protein

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform

Gene

PHKA1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

By phosphorylation of various serine residues. Allosteric regulation by calcium.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calmodulin binding Source: UniProtKB-KW
  • phosphorylase kinase activity Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00901-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.11.19, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P46020

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-70221, Glycogen breakdown (glycogenolysis)

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P46020

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00163

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
Short name:
Phosphorylase kinase alpha M subunit
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PHKA1
Synonyms:PHKA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000067177.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8925, PHKA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
311870, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P46020

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_020856299D → V in GSD9D. 1 PublicationCorresponds to variant dbSNP:rs137852547EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
5255

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PHKA1

MalaCards human disease database

More...
MalaCardsi
PHKA1
MIMi300559, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000067177

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
715, Glycogen storage disease due to muscle phosphorylase kinase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33266

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P46020, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2111324

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PHKA1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
110282976

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000577261 – 1223Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoformAdd BLAST1223

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi1220S-farnesyl cysteineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
P46020

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P46020

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P46020

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P46020

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P46020

PeptideAtlas

More...
PeptideAtlasi
P46020

PRoteomics IDEntifications database

More...
PRIDEi
P46020

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
55708 [P46020-1]
55709 [P46020-2]
55710 [P46020-3]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
P46020-2 [P46020-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P46020

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
P46020

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P46020

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000067177, Expressed in gastrocnemius and 191 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P46020, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P46020, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000067177, Tissue enhanced (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
111273, 18 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P46020

Protein interaction database and analysis system

More...
IntActi
P46020, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000362643

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P46020, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni810 – 840Calmodulin-bindingSequence analysisAdd BLAST31
Regioni1046 – 1086Calmodulin-bindingSequence analysisAdd BLAST41

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3635, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183118

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_004177_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P46020

Database of Orthologous Groups

More...
OrthoDBi
55049at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P46020

TreeFam database of animal gene trees

More...
TreeFami
TF313970

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.50.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008928, 6-hairpin_glycosidase_sf
IPR012341, 6hp_glycosidase-like_sf
IPR011613, GH15-like
IPR008734, PHK_A/B_su

The PANTHER Classification System

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PANTHERi
PTHR10749, PTHR10749, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00723, Glyco_hydro_15, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48208, SSF48208, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NMN0A6NMN0_HUMAN
Phosphorylase b kinase regulatory s...
PHKA1
1,240Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6NIT2A6NIT2_HUMAN
Phosphorylase b kinase regulatory s...
PHKA1
1,181Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS14421.1 [P46020-1]
CCDS48137.1 [P46020-2]
CCDS55453.1 [P46020-3]

Protein sequence database of the Protein Information Resource

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PIRi
I38111

NCBI Reference Sequences

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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

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000339490; ENSP00000342469; ENSG00000067177 [P46020-2]
ENST00000373542; ENSP00000362643; ENSG00000067177 [P46020-1]
ENST00000541944; ENSP00000441251; ENSG00000067177 [P46020-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5255

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5255

UCSC genome browser

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UCSCi
uc004eax.5, human [P46020-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi111273, 18 interactors
CORUMiP46020
IntActiP46020, 9 interactors
STRINGi9606.ENSP00000362643

Chemistry databases

ChEMBLiCHEMBL2111324

PTM databases

iPTMnetiP46020
MetOSiteiP46020
PhosphoSitePlusiP46020

Polymorphism and mutation databases

BioMutaiPHKA1
DMDMi110282976

Proteomic databases

EPDiP46020
jPOSTiP46020
MassIVEiP46020
MaxQBiP46020
PaxDbiP46020
PeptideAtlasiP46020
PRIDEiP46020
ProteomicsDBi55708 [P46020-1]
55709 [P46020-2]
55710 [P46020-3]
TopDownProteomicsiP46020-2 [P46020-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
339, 96 antibodies

The DNASU plasmid repository

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DNASUi
5255

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5255
DisGeNETi5255
EuPathDBiHostDB:ENSG00000067177.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PHKA1
GeneReviewsiPHKA1
HGNCiHGNC:8925, PHKA1
HPAiENSG00000067177, Tissue enhanced (skeletal)
MalaCardsiPHKA1
MIMi300559, phenotype
311870, gene
neXtProtiNX_P46020
OpenTargetsiENSG00000067177
Orphaneti715, Glycogen storage disease due to muscle phosphorylase kinase deficiency
PharmGKBiPA33266

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3635, Eukaryota
GeneTreeiENSGT00950000183118
HOGENOMiCLU_004177_1_0_1
InParanoidiP46020
OrthoDBi55049at2759
PhylomeDBiP46020
TreeFamiTF313970

Enzyme and pathway databases

UniPathwayiUPA00163
BioCyciMetaCyc:HS00901-MONOMER
BRENDAi2.7.11.19, 2681
PathwayCommonsiP46020
ReactomeiR-HSA-70221, Glycogen breakdown (glycogenolysis)
SIGNORiP46020

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
5255, 1 hit in 466 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PHKA1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Phosphorylase_kinase,_alpha_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5255
PharosiP46020, Tbio

Protein Ontology

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PROi
PR:P46020
RNActiP46020, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000067177, Expressed in gastrocnemius and 191 other tissues
ExpressionAtlasiP46020, baseline and differential
GenevisibleiP46020, HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKPB1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P46020
Secondary accession number(s): B7ZL05, B7ZL07, Q2M3D7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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