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Entry version 192 (18 Sep 2019)
Sequence version 1 (01 Nov 1995)
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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

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
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

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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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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)

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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.

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GeneReviewsi
PHKA2

MalaCards human disease database

More...
MalaCardsi
PHKA2
MIMi306000 phenotype

Open Targets

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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

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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

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EPDi
P46019

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P46019

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P46019

MaxQB - The MaxQuant DataBase

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MaxQBi
P46019

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

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PaxDbi
P46019

PeptideAtlas

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PeptideAtlasi
P46019

PRoteomics IDEntifications database

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PRIDEi
P46019

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
55707

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P46019

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

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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

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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

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Genevisiblei
P46019 HS

Organism-specific databases

Human Protein Atlas

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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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111274, 27 interactors

Protein interaction database and analysis system

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IntActi
P46019, 18 interactors

Molecular INTeraction database

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MINTi
P46019

STRING: functional protein association networks

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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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3635 Eukaryota
ENOG410XPJZ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183118

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231478

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P46019

KEGG Orthology (KO)

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KOi
K07190

Identification of Orthologs from Complete Genome Data

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OMAi
EHNMVPT

Database of Orthologous Groups

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OrthoDBi
55049at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P46019

TreeFam database of animal gene trees

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TreeFami
TF313970

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.50.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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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

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Pfami
View protein in Pfam
PF00723 Glyco_hydro_15, 1 hit

Superfamily database of structural and functional annotation

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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

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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
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

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CCDSi
CCDS14190.1

NCBI Reference Sequences

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RefSeqi
NP_000283.1, NM_000292.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000379942; ENSP00000369274; ENSG00000044446

Database of genes from NCBI RefSeq genomes

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GeneIDi
5256

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5256

UCSC genome browser

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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

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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

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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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