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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]
PHKB (Phosphorylase Kinase Regulatory Subunit Beta) is a Protein Coding gene. Diseases associated with PHKB include Glycogen Storage Disease Ixb and Phosphorylase Kinase Deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IPI | 21418524 |
GO:0005516 | calmodulin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005964 | phosphorylase kinase complex | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
2 | Glucose metabolism | ||
3 | Calcium signaling pathway | ||
4 | Glucagon signaling pathway | ||
5 | Regulation of lipid metabolism Insulin signaling-generic cascades |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0005977 | glycogen metabolic process | IEA,TAS | 9402963 |
GO:0005980 | glycogen catabolic process | TAS | -- |
GO:0006091 | generation of precursor metabolites and energy | TAS | 9402963 |
GO:0006468 | protein phosphorylation | IEA | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PHKB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PHKB 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PHKB 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PHKB 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PHKB 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Phkb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Phkb 30 |
|
||
Chicken (Gallus gallus) |
Aves | PHKB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PHKB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phkb 30 |
|
||
Str.17057 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | phkb 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009278 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8475 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y67D8A.2 30 31 |
|
OneToOne | |
Y67D8A.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
CSA.5300 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
838928 | Uncertain Significance: Glycogen storage disease IXb | 47,593,551(+) |
A/G NM_000293.3(PHKB):c.1120A>G (p.Ile374Val) |
MISSENSE | |
839029 | Uncertain Significance: Glycogen storage disease IXb | 47,696,480(+) |
G/A NM_000293.3(PHKB):c.2995G>A (p.Val999Ile) |
MISSENSE | |
845451 | Uncertain Significance: Glycogen storage disease IXb | 47,515,537(+) |
T/C NM_000293.3(PHKB):c.530T>C (p.Leu177Pro) |
MISSENSE | |
845730 | Uncertain Significance: Glycogen storage disease IXb | 47,660,818(+) |
A/G NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser) |
MISSENSE | |
862662 | Uncertain Significance: Glycogen storage disease IXb | 47,589,088(+) |
C/G NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv518e214 | CNV | loss | 21293372 |
esv2758644 | CNV | gain | 17122850 |
esv2761905 | CNV | loss | 21179565 |
esv34317 | CNV | gain | 17911159 |
esv3638553 | CNV | gain | 21293372 |
esv3638556 | CNV | loss | 21293372 |
esv3638557 | CNV | gain | 21293372 |
esv3638561 | CNV | gain | 21293372 |
esv3638563 | CNV | loss | 21293372 |
esv3638564 | CNV | loss | 21293372 |
esv3638565 | CNV | loss | 21293372 |
esv3638566 | CNV | loss | 21293372 |
esv3892856 | CNV | loss | 25118596 |
nsv1056126 | CNV | gain | 25217958 |
nsv1059367 | CNV | loss | 25217958 |
nsv520355 | CNV | gain | 19592680 |
nsv525976 | CNV | gain | 19592680 |
nsv572537 | CNV | loss | 21841781 |
nsv833217 | CNV | gain | 17160897 |
nsv974811 | CNV | duplication | 23825009 |
nsv974812 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease ixb |
|
|
phosphorylase kinase deficiency |
|
|
glycogen storage disease |
|
|
glycogen storage disease, type ixd |
|
|
glycogen storage disease ix |
|
|