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Aliases for PHKB Gene

Aliases for PHKB Gene

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

External Ids for PHKB Gene

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) is a Protein Coding gene. Diseases associated with PHKB include phosphorylase kinase deficiency of liver and muscle, autosomal recessive and phkb-related phosphorylase kinase deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include calmodulin binding and hydrolase activity, hydrolyzing O-glycosyl compounds. 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

Genomic Location for PHKB Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PHKB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHKB Gene

Regulatory Elements 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

No data available for DME Specific Peptides for PHKB Gene

Domains 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
Family:
  • Belongs to the phosphorylase b kinase regulatory chain family.:
    • Q93100
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

Gene Ontology (GO) - Molecular Function for PHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004689 phosphorylase kinase activity IEA --
GO:0005515 protein binding IPI 21418524
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with PHKB: view

Phenotypes for PHKB Gene

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

miRNA for PHKB Gene

miRTarBase miRNAs that target PHKB

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
plasma membrane 5
cytosol 4
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005964 phosphorylase kinase complex IEA --
genes like me logo Genes that share ontologies with PHKB: view

Pathways for PHKB Gene

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

Pathways by source for PHKB Gene

1 GeneGo (Thomson Reuters) pathway for PHKB Gene
1 BioSystems pathway 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:0005975 carbohydrate metabolic process TAS --
GO:0005976 polysaccharide metabolic process --
GO:0005977 glycogen metabolic process TAS 9402963
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
genes like me logo Genes that share ontologies with PHKB: view

Compounds for PHKB Gene

(1) Novoseek inferred chemical compound relationships for PHKB Gene

Compound -log(P) Hits PubMed IDs
glycogen 61.1 1
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 (4.6).

Integrated Proteomics: protein expression 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 expressions with PHKB: view

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
chimpanzee
(Pan troglodytes)
Mammalia PHKB 35
  • 99.76 (n)
  • 99.91 (a)
PHKB 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia PHKB 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHKB 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phkb 35
  • 86.9 (n)
  • 92.37 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009278 35
  • 52.59 (n)
  • 48.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8475 35
  • 52.16 (n)
  • 48.94 (a)
CG8475 36
  • 47 (a)
OneToOne
CG8475 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea Y67D8A.2 35
  • 51.01 (n)
  • 44.4 (a)
Y67D8A.2 36
  • 36 (a)
OneToOne
Y67D8A.1 37
  • 38 (a)
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

Selected 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 MAF
rs721649 -- 47,593,340(+) CTGAG(G/T)CAGGA intron-variant
rs930781 -- 47,693,121(-) AATTG(C/G)TTACT intron-variant
rs1011532 -- 47,664,805(+) AATGC(A/T)GACTG intron-variant
rs1015589 -- 47,695,882(-) GCGAC(A/G)CTAAA intron-variant
rs1050298 -- 47,665,979(+) GTAAA(G/T)TAGTG intron-variant, reference, missense

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

Relevant External Links for PHKB Gene

HapMap Linkage Disequilibrium report
PHKB
Human Gene Mutation Database (HGMD)
PHKB

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

Disorders for PHKB Gene

(1) OMIM Diseases for PHKB Gene (172490)

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.

(1) University of Copenhagen DISEASES for PHKB Gene

(1) Novoseek inferred disease relationships for PHKB Gene

Disease -log(P) Hits PubMed IDs
glycogen storage disease 88.3 3

Relevant External Links for PHKB

Genetic Association Database (GAD)
PHKB
Human Genome Epidemiology (HuGE) Navigator
PHKB
genes like me logo Genes that share disorders with PHKB: view

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
  2. 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 4 23
  3. 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
  4. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). (PMID: 9326319) van den Berg I.E.T. … Berger R. (Am. J. Hum. Genet. 1997) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for PHKB Gene

Sources for PHKB Gene

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