Human Gene PHKB (ENST00000323584.10_8) from GENCODE V47lift37
  Description: phosphorylase kinase regulatory subunit beta, transcript variant 1 (from RefSeq NM_000293.3)
Gencode Transcript: ENST00000323584.10_8
Gencode Gene: ENSG00000102893.18_17
Transcript (Including UTRs)
   Position: hg19 chr16:47,495,242-47,735,434 Size: 240,193 Total Exon Count: 31 Strand: +
Coding Region
   Position: hg19 chr16:47,495,262-47,733,277 Size: 238,016 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:47,495,242-47,735,434)mRNA (may differ from genome)Protein (1093 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KPBB_HUMAN
DESCRIPTION: RecName: Full=Phosphorylase b kinase regulatory subunit beta; Short=Phosphorylase kinase subunit beta;
FUNCTION: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
ENZYME REGULATION: By phosphorylation of various serine residues (By similarity).
PATHWAY: Glycan biosynthesis; glycogen metabolism.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential).
PTM: Ser-701 is probably phosphorylated by PKA.
PTM: Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated (By similarity).
DISEASE: Defects in PHKB are the cause of glycogen storage disease type 9B (GSD9B) [MIM:261750]; also known as phosphorylase kinase deficiency of liver and muscle (PKD). GSD9B is a metabolic disorder characterized by hepathomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity.
SIMILARITY: Belongs to the phosphorylase b kinase regulatory chain family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKB";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PHKB
Diseases sorted by gene-association score: phosphorylase kinase deficiency of liver and muscle, autosomal recessive* (1550), phkb-related phosphorylase kinase deficiency* (500), phosphorylase kinase deficiency (29), glycogen storage disease (20), muscle glycogenosis (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.06 RPKM in Muscle - Skeletal
Total median expression: 452.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.3020-0.165 Picture PostScript Text
3' UTR -525.202157-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008928 - 6-hairpin_glycosidase-like
IPR011613 - Glyco_hydro_15
IPR008734 - PHK_A/B_su

Pfam Domains:
PF00723 - Glycosyl hydrolases family 15
PF19292 - Phosphorylase b kinase C-terminal domain

SCOP Domains:
48208 - Six-hairpin glycosidases
52518 - Thiamin diphosphate-binding fold (THDP-binding)

ModBase Predicted Comparative 3D Structure on Q93100
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004689 phosphorylase kinase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0005977 glycogen metabolic process
GO:0006091 generation of precursor metabolites and energy
GO:0006468 protein phosphorylation

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005964 phosphorylase kinase complex
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK298588 - Homo sapiens cDNA FLJ57886 complete cds, highly similar to Phosphorylase b kinase regulatory subunit beta.
X84908 - H.sapiens mRNA for phosphorylase-kinase, beta subunit.
CR936710 - Homo sapiens mRNA; cDNA DKFZp781E15103 (from clone DKFZp781E15103).
BC033657 - Homo sapiens phosphorylase kinase, beta, mRNA (cDNA clone MGC:45326 IMAGE:3913693), complete cds.
AK309226 - Homo sapiens cDNA, FLJ99267.
KJ905262 - Synthetic construct Homo sapiens clone ccsbBroadEn_14753 PHKB gene, encodes complete protein.
KJ905263 - Synthetic construct Homo sapiens clone ccsbBroadEn_14754 PHKB gene, encodes complete protein.
AB463174 - Synthetic construct DNA, clone: pF1KB9559, Homo sapiens PHKB gene for phosphorylase kinase, beta, without stop codon, in Flexi system.
DQ891354 - Synthetic construct clone IMAGE:100003984; FLH171342.01X; RZPDo839H09100D phosphorylase kinase, beta (PHKB) gene, encodes complete protein.
AK293122 - Homo sapiens cDNA FLJ57024 complete cds, highly similar to Phosphorylase b kinase regulatory subunit beta.
AK123692 - Homo sapiens cDNA FLJ41698 fis, clone HCHON2003532, highly similar to Phosphorylase b kinase regulatory subunit beta.
JD308550 - Sequence 289574 from Patent EP1572962.
JD146636 - Sequence 127660 from Patent EP1572962.
JD168157 - Sequence 149181 from Patent EP1572962.
JD052302 - Sequence 33326 from Patent EP1572962.
JD082850 - Sequence 63874 from Patent EP1572962.
JD451150 - Sequence 432174 from Patent EP1572962.
JD412688 - Sequence 393712 from Patent EP1572962.
JD305071 - Sequence 286095 from Patent EP1572962.
JD291811 - Sequence 272835 from Patent EP1572962.
JD266592 - Sequence 247616 from Patent EP1572962.
JD286589 - Sequence 267613 from Patent EP1572962.
JD511448 - Sequence 492472 from Patent EP1572962.
JD329029 - Sequence 310053 from Patent EP1572962.
JD319179 - Sequence 300203 from Patent EP1572962.
JD319180 - Sequence 300204 from Patent EP1572962.
JD319181 - Sequence 300205 from Patent EP1572962.
JD383277 - Sequence 364301 from Patent EP1572962.
JD378311 - Sequence 359335 from Patent EP1572962.
JD432975 - Sequence 413999 from Patent EP1572962.
JD502411 - Sequence 483435 from Patent EP1572962.
JD036834 - Sequence 17858 from Patent EP1572962.
JD117532 - Sequence 98556 from Patent EP1572962.
JD197108 - Sequence 178132 from Patent EP1572962.
JD201243 - Sequence 182267 from Patent EP1572962.
JD557275 - Sequence 538299 from Patent EP1572962.
JD529041 - Sequence 510065 from Patent EP1572962.
JD169016 - Sequence 150040 from Patent EP1572962.
JD169017 - Sequence 150041 from Patent EP1572962.
JD169018 - Sequence 150042 from Patent EP1572962.
JD040936 - Sequence 21960 from Patent EP1572962.
JD319824 - Sequence 300848 from Patent EP1572962.
JD447180 - Sequence 428204 from Patent EP1572962.
JD168221 - Sequence 149245 from Patent EP1572962.
JD304955 - Sequence 285979 from Patent EP1572962.
JD047931 - Sequence 28955 from Patent EP1572962.
JD086531 - Sequence 67555 from Patent EP1572962.
JD255076 - Sequence 236100 from Patent EP1572962.
JD134898 - Sequence 115922 from Patent EP1572962.
JD269525 - Sequence 250549 from Patent EP1572962.
JD189738 - Sequence 170762 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q93100 (Reactome details) participates in the following event(s):

R-HSA-71541 glycogen phosphorylase (PYGM) dimer b + 2 ATP => glycogen phosphorylase (PYGM) dimer a + 2 ADP
R-HSA-453337 glycogen phosphorylase (PYGB) dimer b + 2 ATP => glycogen phosphorylase (PYGB) dimer a + 2 ADP
R-HSA-71588 glycogen phosphorylase (PYGL) dimer b + 2 ATP => glycogen phosphorylase (PYGL) dimer a + 2 ADP
R-HSA-70221 Glycogen breakdown (glycogenolysis)
R-HSA-8982491 Glycogen metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000323584.1, ENST00000323584.2, ENST00000323584.3, ENST00000323584.4, ENST00000323584.5, ENST00000323584.6, ENST00000323584.7, ENST00000323584.8, ENST00000323584.9, KPBB_HUMAN, NM_000293, Q8N4T5, Q93100, uc317rmk.1, uc317rmk.2
UCSC ID: ENST00000323584.10_8
RefSeq Accession: NM_000293.3
Protein: Q93100 (aka KPBB_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PHKB:
gsd9 (Phosphorylase Kinase Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.