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Aliases for PHKB Gene

Aliases for PHKB Gene

  • Phosphorylase Kinase Beta Subunit 2 3
  • Phosphorylase Kinase, Beta 2 5
  • Phosphorylase Kinase Subunit Beta 4

External Ids for PHKB Gene

Previous GeneCards Identifiers for PHKB Gene

  • GC16P037905
  • GC16P047235
  • GC16P047276
  • GC16P046052
  • GC16P033385

Summaries for PHKB Gene

Entrez Gene Summary for PHKB Gene

  • 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]

GeneCards Summary for PHKB Gene

PHKB (Phosphorylase Kinase Beta Subunit) is a Protein Coding gene. Diseases associated with PHKB include Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive and Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Glucagon signaling pathway. GO annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA1.

UniProtKB/Swiss-Prot for PHKB Gene

  • 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.

Gene Wiki entry for PHKB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKB Gene

Genomics for PHKB Gene

Regulatory Elements for PHKB Gene

Enhancers for PHKB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PHKB on UCSC Golden Path with GeneCards custom track

Promoters for PHKB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHKB on UCSC Golden Path with GeneCards custom track

Genomic Location for PHKB Gene

Chromosome:
16
Start:
47,461,123 bp from pter
End:
47,701,523 bp from pter
Size:
240,401 bases
Orientation:
Plus strand

Genomic View for PHKB Gene

Genes around PHKB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHKB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHKB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHKB Gene

Proteins for PHKB Gene

  • Protein details for PHKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93100-KPBB_HUMAN
    Recommended name:
    Phosphorylase b kinase regulatory subunit beta
    Protein Accession:
    Q93100
    Secondary Accessions:
    • Q8N4T5

    Protein attributes for PHKB Gene

    Size:
    1093 amino acids
    Molecular mass:
    124884 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for PHKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHKB Gene

Proteomics data for PHKB Gene at MOPED

Post-translational modifications for PHKB Gene

  • Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.
  • Ser-701 is probably phosphorylated by PKA.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PHKB Gene

Domains & Families for PHKB Gene

Protein Domains for PHKB Gene

Suggested Antigen Peptide Sequences for PHKB Gene

Graphical View of Domain Structure for InterPro Entry

Q93100

UniProtKB/Swiss-Prot:

KPBB_HUMAN :
  • Belongs to the phosphorylase b kinase regulatory chain family.
Family:
  • Belongs to the phosphorylase b kinase regulatory chain family.
genes like me logo Genes that share domains with PHKB: view

No data available for Gene Families for PHKB Gene

Function for PHKB Gene

Molecular function for PHKB Gene

GENATLAS Biochemistry:
phosphorylase kinase,beta subunit,ubiquitous,glycogen catabolism
UniProtKB/Swiss-Prot EnzymeRegulation:
By phosphorylation of various serine residues.
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with PHKB: view

Human Phenotype Ontology for PHKB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PHKB Gene

Localization for PHKB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHKB Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHKB Gene COMPARTMENTS Subcellular localization image for PHKB gene
Compartment Confidence
cytosol 5
plasma membrane 3
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with PHKB: view

Pathways & Interactions for PHKB Gene

genes like me logo Genes that share pathways with PHKB: view

Pathways by source for PHKB Gene

UniProtKB/Swiss-Prot Q93100-KPBB_HUMAN

  • Pathway: Glycan biosynthesis; glycogen metabolism.

Gene Ontology (GO) - Biological Process for PHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 9402963
GO:0008152 metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PHKB: view

No data available for SIGNOR curated interactions for PHKB Gene

Drugs & Compounds for PHKB Gene

(1) Additional Compounds for PHKB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PHKB: view

Transcripts for PHKB Gene

Unigene Clusters for PHKB Gene

Phosphorylase kinase, beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHKB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2: - -
SP3:
SP4: - - - - - -

ExUns: 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
SP1: - -
SP2: - -
SP3:
SP4:

Relevant External Links for PHKB Gene

GeneLoc Exon Structure for
PHKB
ECgene alternative splicing isoforms for
PHKB

Expression for PHKB Gene

mRNA expression in normal human tissues for PHKB Gene

mRNA differential expression in normal tissues according to GTEx for PHKB Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for PHKB Gene

This gene is overexpressed in Heart (10.6), Lymph node (8.4), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHKB Gene



SOURCE GeneReport for Unigene cluster for PHKB Gene Hs.78060

genes like me logo Genes that share expression patterns with PHKB: view

Protein tissue co-expression partners for PHKB Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PHKB Gene

Orthologs for PHKB Gene

This gene was present in the common ancestor of animals.

Orthologs for PHKB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PHKB 35
  • 90.56 (n)
  • 92.27 (a)
PHKB 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHKB 35
  • 91.71 (n)
  • 94.19 (a)
PHKB 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phkb 35
  • 87.2 (n)
  • 92.15 (a)
Phkb 16
Phkb 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PHKB 35
  • 99.76 (n)
  • 99.91 (a)
PHKB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phkb 35
  • 86.9 (n)
  • 92.37 (a)
oppossum
(Monodelphis domestica)
Mammalia PHKB 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHKB 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHKB 35
  • 78.79 (n)
  • 84.77 (a)
PHKB 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHKB 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phkb 35
  • 74.87 (n)
  • 82.13 (a)
Str.17057 35
zebrafish
(Danio rerio)
Actinopterygii phkb 35
  • 70.82 (n)
  • 78.02 (a)
phkb 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8475 37
  • 46 (a)
CG8475 35
  • 52.16 (n)
  • 48.94 (a)
CG8475 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009278 35
  • 52.59 (n)
  • 48.65 (a)
worm
(Caenorhabditis elegans)
Secernentea Y67D8A.1 37
  • 38 (a)
Y67D8A.2 35
  • 51.01 (n)
  • 44.4 (a)
Y67D8A.2 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
CSA.5300 36
  • 42 (a)
OneToMany
Species with no ortholog for PHKB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PHKB Gene

ENSEMBL:
Gene Tree for PHKB (if available)
TreeFam:
Gene Tree for PHKB (if available)

Paralogs for PHKB Gene

Paralogs for PHKB Gene

(1) SIMAP similar genes for PHKB Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for PHKB Gene

genes like me logo Genes that share paralogs with PHKB: view

Variants for PHKB Gene

Sequence variations from dbSNP and Humsavar for PHKB Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs16945474 - 47,663,707(+) AGTCT(A/G)TAGAA reference, missense
VAR_015536 Glycogen storage disease 9B (GSD9B)
rs34667348 - 47,650,919(+) GTCTA(A/C/T)AGGTA reference, missense
rs9934849 - 47,669,246(+) AGAAG(A/T)AGTTA reference, missense, utr-variant-3-prime
VAR_036486 A breast cancer sample

Structural Variations from Database of Genomic Variants (DGV) for PHKB Gene

Variant ID Type Subtype PubMed ID
dgv887e1 CNV Complex 17122850
nsv833217 CNV Gain 17160897
esv34317 CNV Gain 17911159
nsv520355 CNV Gain 19592680
nsv525976 CNV Gain 19592680

Variation tolerance for PHKB Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHKB Gene

Human Gene Mutation Database (HGMD)
PHKB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKB Gene

Disorders for PHKB Gene

MalaCards: The human disease database

(6) MalaCards diseases for PHKB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
  • glycogen storage disease 9b
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
  • glycogen storage disease type ixb
phkb-related phosphorylase kinase deficiency
  • glycogen storage disease type ixb
phosphorylase kinase deficiency
  • glycogen storage disease type ix
glycogen storage disease
  • glycogenoses
- elite association - COSMIC cancer census association via MalaCards
Search PHKB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KPBB_HUMAN
  • Glycogen storage disease 9B (GSD9B) [MIM:261750]: A metabolic disorder characterized by hepatomegaly, 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. {ECO:0000269 PubMed:9402963}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PHKB

Genetic Association Database (GAD)
PHKB
Human Genome Epidemiology (HuGE) Navigator
PHKB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHKB
genes like me logo Genes that share disorders with PHKB: view

No data available for Genatlas for PHKB Gene

Publications for PHKB Gene

  1. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). (PMID: 9402963) Burwinkel B. … Kilimann M.W. (Hum. Genet. 1997) 3 4 23 48 67
  2. Glycogen storage disease type IX: High variability in clinical phenotype. (PMID: 17689125) Beauchamp N.J. … Sharrard M. (Mol. Genet. Metab. 2007) 3 23
  3. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. (PMID: 9533876) Burwinkel B. … Kilimann M.W. (J. Mol. Biol. 1998) 3 23
  4. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (PMID: 9215682) Burwinkel B. … Kilimann M.W. (Hum. Mol. Genet. 1997) 3 23
  5. Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB). (PMID: 8681948) Wuellrich-Schmoll A. … Kilimann M.W. (Eur. J. Biochem. 1996) 3 23

Products for PHKB Gene

Sources for PHKB Gene

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