• Gene id: 5257

Gene Summary

• Gene Symbol: PHKB   Gene   UCSC   Ensembl
• Gene name: phosphorylase kinase regulatory subunit beta
• Alternate names: phosphorylase b kinase regulatory subunit beta, phosphorylase kinase beta-subunit, phosphorylase kinase subunit beta, phosphorylase kinase, beta,
• Gene location: 16q12.1 (47461298: 47701522)     Exons: 33     NC_000016.10
• Gene summary(Entrez): 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 i
• OMIM: 172490

Protein Summary

• Protein general information: Q93100  
  • Name: Phosphorylase b kinase regulatory subunit beta (Phosphorylase kinase subunit beta)
  • Length: 1093  
  • Mass: 124884
• Sequence:

  MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKT
  CGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLH
  SVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGS
  KYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCI
  SYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMID
  GVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYII
  AKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEP
  IQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKN
  ALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISD
  TEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKR
  EGPNFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNP
  LSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLY
  QLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMY
  EMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQDD
  MTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS

• Structural information:
  • Interpro: IPR008928  IPR011613  IPR008734  
  • STRING: ENSP00000313504
• Other Databases: GeneCards:  PHKB  Malacards:  PHKB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005964	phosphorylase kinase complex	IBA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005977	glycogen metabolic process	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004689	phosphorylase kinase activity	IEA	molecular function
GO:0005964	phosphorylase kinase complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04910	Insulin signaling pathway
hsa04922	Glucagon signaling pathway

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type IX	KEGG:H01948
Glycogen storage disease	KEGG:H00069
Hepatic glycogen storage disease	KEGG:H01760
Glycogen storage disease type IX	KEGG:H01948
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq