PHKB

Protein identityUniProt · HPA

UniProt accession

Q93100

Gene

PHKB

Ensembl

ENSG00000102893

Chromosome

16

Canonical length

1093 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Golgi apparatus

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1093 residues, UniProt reviewed canonical sequence.

>Q93100|PHKB
     1  MAGAAGLTAE VSWKVLERRA RTKRSGSVYE PLKSINLPRP DNETLWDKLD HYYRIVKSTL
    61  LLYQSPTTGL FPTKTCGGDQ KAKIQDSLYC AAGAWALALA YRRIDDDKGR THELEHSAIK
   121  CMRGILYCYM RQADKVQQFK QDPRPTTCLH SVFNVHTGDE LLSYEEYGHL QINAVSLYLL
   181  YLVEMISSGL QIIYNTDEVS FIQNLVFCVE RVYRVPDFGV WERGSKYNNG STELHSSSVG
   241  LAKAALEAIN GFNLFGNQGC SWSVIFVDLD AHNRNRQTLC SLLPRESRSH NTDAALLPCI
   301  SYPAFALDDE VLFSQTLDKV VRKLKGKYGF KRFLRDGYRT SLEDPNRCYY KPAEIKLFDG
   361  IECEFPIFFL YMMIDGVFRG NPKQVQEYQD LLTPVLHHTT EGYPVVPKYY YVPADFVEYE
   421  KNNPGSQKRF PSNCGRDGKL FLWGQALYII AKLLADELIS PKDIDPVQRY VPLKDQRNVS
   481  MRFSNQGPLE NDLVVHVALI AESQRLQVFL NTYGIQTQTP QQVEPIQIWP QQELVKAYLQ
   541  LGINEKLGLS GRPDRPIGCL GTSKIYRILG KTVVCYPIIF DLSDFYMSQD VFLLIDDIKN
   601  ALQFIKQYWK MHGRPLFLVL IREDNIRGSR FNPILDMLAA LKKGIIGGVK VHVDRLQTLI
   661  SGAVVEQLDF LRISDTEELP EFKSFEELEP PKHSKVKRQS STPSAPELGQ QPDVNISEWK
   721  DKPTHEILQK LNDCSCLASQ AILLGILLKR EGPNFITKEG TVSDHIERVY RRAGSQKLWL
   781  AVRYGAAFTQ KFSSSIAPHI TTFLVHGKQV TLGAFGHEEE VISNPLSPRV IQNIIYYKCN
   841  THDEREAVIQ QELVIHIGWI ISNNPELFSG MLKIRIGWII HAMEYELQIR GGDKPALDLY
   901  QLSPSEVKQL LLDILQPQQN GRCWLNRRQI DGSLNRTPTG FYDRVWQILE RTPNGIIVAG
   961  KHLPQQPTLS DMTMYEMNFS LLVEDTLGNI DQPQYRQIVV ELLMVVSIVL ERNPELEFQD
  1021  KVDLDRLVKE AFNEFQKDQS RLKEIEKQDD MTSFYNTPPL GKRGTCSYLT KAVMNLLLEG
  1081  EVKPNNDDPC LIS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHKB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

123 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHKB.

Disease | AllUniProt

Conditions PHKB is implicated in, by any mechanism.

• Glycogen storage disease 9B (GSD9B) MIM:261750

Disease | GeneticClinVar

129 pathogenic / likely-pathogenic of 1,218 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glycogen storage disease IXb
• Glycogen phosphorylase kinase deficiency
• PHKB-related disorder
• Gastric cancer
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.84

gnomAD pLI

0

gnomAD missense Z

0.3

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• generation of precursor metabolites and energy
• glycogen metabolic process

Molecular functions

• calmodulin binding

Cellular components

• cytosol
• phosphorylase kinase complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Phosphorylase kinase alpha/beta subunit
• Six-hairpin glycosidase superfamily
• GH15-like domain
• Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain
• Glycosyl hydrolases family 15
• Phosphorylase b kinase C-terminal domain

KeywordsUniProt

• Acetylation
• Calmodulin-binding
• Carbohydrate metabolism
• Cell membrane
• Glycogen metabolism
• Glycogen storage disease
• Lipoprotein
• Membrane
• Phosphoprotein
• Prenylation

InteractionsUniProt · HPA

Protein binding partners of PHKB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CALM1
• CAMK2B
• PHKG2