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PHKB phosphorylase kinase, beta [ Homo sapiens (human) ]

Gene ID: 5257, updated on 26-Aug-2014
Official Symbol
PHKBprovided by HGNC
Official Full Name
phosphorylase kinase, betaprovided by HGNC
Primary source
HGNC:8927
See related
Ensembl:ENSG00000102893; HPRD:01407; MIM:172490; Vega:OTTHUMG00000133102
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
See PHKB in Epigenomics, MapViewer
Location:
16q12-q13
Exon count:
33
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (47461299..47701523)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (47495047..47735434)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene integrin alpha FG-GAP repeat containing 1 Neighboring gene uncharacterized LOC102724755 Neighboring gene RNA, 5S ribosomal pseudogene 424 Neighboring gene RNA, 5S ribosomal pseudogene 425 Neighboring gene Rho GTPase activating protein 20 pseudogene Neighboring gene NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene Neighboring gene eukaryotic translation initiation factor 4B pseudogene 5 Neighboring gene uncharacterized LOC100507534 Neighboring gene uncharacterized LOC101927132 Neighboring gene ATP-binding cassette, sub-family C (CFTR/MRP), member 12

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol The beta subunit of phosphorylase kinase is cleaved at leu678-pro679 by HIV-1 protease PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal musle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to mainta...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41698, DKFZp781E15103

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
phosphorylase kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycogen catabolic process TAS
Traceable Author Statement
more info
 
glycogen metabolic process TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
phosphorylase kinase complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
phosphorylase b kinase regulatory subunit beta
Names
phosphorylase b kinase regulatory subunit beta
phosphorylase kinase beta-subunit
phosphorylase kinase subunit beta
NP_000284.1
NP_001027005.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016598.1 

    Range
    5001..245225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000293.2NP_000284.1  phosphorylase b kinase regulatory subunit beta isoform a

    See proteins identical to NP_000284.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC007599, AC092374, X84908
    Consensus CDS
    CCDS10729.1
    UniProtKB/Swiss-Prot
    Q93100
    Conserved Domains (1) summary
    pfam00723
    Location:49470
    Blast Score: 392
    Glyco_hydro_15; Glycosyl hydrolases family 15
  2. NM_001031835.2NP_001027005.1  phosphorylase b kinase regulatory subunit beta isoform b

    See proteins identical to NP_001027005.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region and an alternate exon in the 3' region, as compared to variant 1. The resulting isoform (b) is shorter and has an alternate N-terminus and a different segment in the C-terminal region, as compared to isoform a.
    Source sequence(s)
    AC007599, AC092374, BC033657
    Consensus CDS
    CCDS42161.1
    UniProtKB/Swiss-Prot
    Q93100
    Conserved Domains (1) summary
    pfam00723
    Location:42463
    Blast Score: 392
    Glyco_hydro_15; Glycosyl hydrolases family 15

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    47461299..47701523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255984.2XP_005256041.1  

    See proteins identical to XP_005256041.1

    UniProtKB/Swiss-Prot
    Q93100
    Related
    ENSP00000456729, OTTHUMP00000253853, ENST00000566044, OTTHUMT00000430412
    Conserved Domains (1) summary
    pfam00723
    Location:42463
    Blast Score: 392
    Glyco_hydro_15; Glycosyl hydrolases family 15
  2. XM_005255983.2XP_005256040.1  

    UniProtKB/Swiss-Prot
    Q93100
    Related
    ENSP00000299167, OTTHUMP00000164134, ENST00000299167, OTTHUMT00000256767
    Conserved Domains (1) summary
    pfam00723
    Location:49470
    Blast Score: 392
    Glyco_hydro_15; Glycosyl hydrolases family 15

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    33385772..33625996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    48902240..49142934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)