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UniProtKB - P46019 (KPB2_HUMAN)

Entry version 192 (18 Sep 2019)
Sequence version 1 (01 Nov 1995)
Previous versions | rss
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Protein

Phosphorylase b kinase regulatory subunit alpha, liver isoform

Gene

PHKA2

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_section">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 and by calcium.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'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
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
Biological processCarbohydrate metabolism, Glycogen metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS00576-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.11.19 2681

Reactome - a knowledgebase of biological pathways and processes

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

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_and_taxonomy_section">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, liver isoform
Short name:
Phosphorylase kinase alpha L subunit
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PHKA2
Synonyms:PHKLA, PYK
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:8926 PHKA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300798 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P46019

<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 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.
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_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 PublicationCorresponds to variant dbSNP:rs1555988071EnsemblClinVar.1
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

DisGeNET

More...DisGeNETi		5256

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

More...GeneReviewsi		PHKA2

MalaCards human disease database

More...MalaCardsi		PHKA2
MIMi306000 phenotype

Open Targets

More...OpenTargetsi		ENSG00000044446

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

More...Orphaneti		264580 Glycogen storage disease due to liver phosphorylase kinase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33267

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P46019

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		PHKA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		1170685

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000577301 – 1235Phosphorylase b kinase regulatory subunit alpha, liver isoformAdd BLAST1235

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 residuei695PhosphoserineCombined sources1
Modified residuei729PhosphoserineCombined sources1
Modified residuei735PhosphoserineCombined sources1
Modified residuei983PhosphoserineCombined sources1
Modified residuei1015PhosphoserineCombined sources1
Modified residuei1044PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Lipidationi1232S-farnesyl cysteineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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		P46019

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P46019

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P46019

MaxQB - The MaxQuant DataBase

More...MaxQBi		P46019

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

More...PaxDbi		P46019

PeptideAtlas

More...PeptideAtlasi		P46019

PRoteomics IDEntifications database

More...PRIDEi		P46019

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55707

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P46019

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

More...PhosphoSitePlusi		P46019

<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

Predominantly expressed in liver and other non-muscle tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000044446 Expressed in 212 organ(s), highest expression level in right lobe of liver

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P46019 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA002912

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
P157355EBI-1642846,EBI-1383819

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111274, 27 interactors

Protein interaction database and analysis system

More...IntActi		P46019, 18 interactors

Molecular INTeraction database

More...MINTi		P46019

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000369274

<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>Regioni807 – 837Calmodulin-bindingSequence analysisAdd BLAST31
Regioni1059 – 1099Calmodulin-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

Belongs to the phosphorylase b kinase regulatory chain family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3635 Eukaryota
ENOG410XPJZ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183118

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231478

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P46019

KEGG Orthology (KO)

More...KOi		K07190

Identification of Orthologs from Complete Genome Data

More...OMAi		EHNMVPT

Database of Orthologous Groups

More...OrthoDBi		55049at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P46019

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

More...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_length">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

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
<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:i6CA10CFFA86A582A
GO

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 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 PublicationCorresponds to variant dbSNP:rs1555988071EnsemblClinVar.1
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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14190.1

NCBI Reference Sequences

More...RefSeqi		NP_000283.1, NM_000292.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000379942; ENSP00000369274; ENSG00000044446

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5256

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5256

UCSC genome browser

More...UCSCi		uc004cyv.5 human

Keywords - Coding sequence diversityi

Polymorphism

<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
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

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi111274, 27 interactors
IntActiP46019, 18 interactors
MINTiP46019
STRINGi9606.ENSP00000369274

Chemistry databases

ChEMBLiCHEMBL2111324

PTM databases

iPTMnetiP46019
PhosphoSitePlusiP46019

Polymorphism and mutation databases

BioMutaiPHKA2
DMDMi1170685

Proteomic databases

EPDiP46019
jPOSTiP46019
MassIVEiP46019
MaxQBiP46019
PaxDbiP46019
PeptideAtlasiP46019
PRIDEiP46019
ProteomicsDBi55707

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5256

Genome annotation databases

EnsembliENST00000379942; ENSP00000369274; ENSG00000044446
GeneIDi5256
KEGGihsa:5256
UCSCiuc004cyv.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5256
DisGeNETi5256

GeneCards: human genes, protein and diseases

More...GeneCardsi		PHKA2
GeneReviewsiPHKA2
HGNCiHGNC:8926 PHKA2
HPAiHPA002912
MalaCardsiPHKA2
MIMi300798 gene
306000 phenotype
neXtProtiNX_P46019
OpenTargetsiENSG00000044446
Orphaneti264580 Glycogen storage disease due to liver phosphorylase kinase deficiency
PharmGKBiPA33267

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3635 Eukaryota
ENOG410XPJZ LUCA
GeneTreeiENSGT00950000183118
HOGENOMiHOG000231478
InParanoidiP46019
KOiK07190
OMAiEHNMVPT
OrthoDBi55049at2759
PhylomeDBiP46019
TreeFamiTF313970

Enzyme and pathway databases

UniPathwayiUPA00163
BioCyciMetaCyc:HS00576-MONOMER
BRENDAi2.7.11.19 2681
ReactomeiR-HSA-70221 Glycogen breakdown (glycogenolysis)

Miscellaneous databases

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

More...ChiTaRSi		PHKA2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PHKA2

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

More...GenomeRNAii		5256
PharosiP46019

Protein Ontology

More...PROi		PR:P46019

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000044446 Expressed in 212 organ(s), highest expression level in right lobe of liver
GenevisibleiP46019 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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiKPB2_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: P46019
Secondary accession number(s): A8K1T1
, Q6LAJ5, Q7Z6W0, Q96CR3, Q9UDA1
<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_and_isoforms">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: November 1, 1995
Last modified: September 18, 2019
This is version 192 of the entry and version 1 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

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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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