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Protein

Phosphorylase b kinase regulatory subunit beta

Gene

PHKB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

Enzyme regulationi

By phosphorylation of various serine residues.By similarity

Pathwayi: glycogen metabolism

This protein is involved in the pathway glycogen metabolism, which is part of Glycan biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycogen metabolism and in Glycan biosynthesis.

GO - Molecular functioni

GO - Biological processi

  • generation of precursor metabolites and energy Source: ProtInc
  • glycogen catabolic process Source: Reactome
  • glycogen metabolic process Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Carbohydrate metabolism, Glycogen metabolism

Keywords - Ligandi

Calmodulin-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02424-MONOMER.
ZFISH:HS02424-MONOMER.
ReactomeiR-HSA-70221. Glycogen breakdown (glycogenolysis).
UniPathwayiUPA00163.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphorylase b kinase regulatory subunit beta
Short name:
Phosphorylase kinase subunit beta
Gene namesi
Name:PHKB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:8927. PHKB.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 9B (GSD9B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:261750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015536118A → P in GSD9B. 1 PublicationCorresponds to variant rs121918022dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi5257.
MalaCardsiPHKB.
MIMi261750. phenotype.
OpenTargetsiENSG00000102893.
Orphaneti79240. Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency.
PharmGKBiPA33268.

Chemistry databases

ChEMBLiCHEMBL2111324.

Polymorphism and mutation databases

BioMutaiPHKB.
DMDMi2499582.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000577362 – 1093Phosphorylase b kinase regulatory subunit betaAdd BLAST1092
Isoform 2 (identifier: Q93100-2)
Initiator methionineiRemovedCombined sources
Isoform 4 (identifier: Q93100-4)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineBy similarity1
Modified residuei12Phosphoserine; by autocatalysisBy similarity1
Modified residuei27PhosphoserineCombined sources1
Modified residuei701PhosphoserineBy similarity1
Lipidationi1090S-farnesyl cysteineBy similarity1
Isoform 2 (identifier: Q93100-2)
Modified residuei2N-acetylalanineCombined sources1
Modified residuei4PhosphoserineCombined sources1
Isoform 4 (identifier: Q93100-4)
Modified residuei2N-acetylalanineCombined sources1
Modified residuei4PhosphoserineCombined sources1

Post-translational modificationi

Ser-701 is probably phosphorylated by PKA.
Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.By similarity

Keywords - PTMi

Acetylation, Lipoprotein, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ93100.
MaxQBiQ93100.
PaxDbiQ93100.
PeptideAtlasiQ93100.
PRIDEiQ93100.

PTM databases

iPTMnetiQ93100.
PhosphoSitePlusiQ93100.

Expressioni

Gene expression databases

BgeeiENSG00000102893.
CleanExiHS_PHKB.
ExpressionAtlasiQ93100. baseline and differential.
GenevisibleiQ93100. HS.

Interactioni

Subunit structurei

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.

Binary interactionsi

WithEntry#Exp.IntActNotes
CAMK2BQ135543EBI-740559,EBI-1058722
PASKQ96RG22EBI-740559,EBI-1042651

Protein-protein interaction databases

BioGridi111275. 23 interactors.
IntActiQ93100. 9 interactors.
MINTiMINT-1444943.
STRINGi9606.ENSP00000313504.

Structurei

3D structure databases

ProteinModelPortaliQ93100.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni7 – 29Calmodulin-bindingSequence analysisAdd BLAST23
Regioni768 – 795Calmodulin-bindingSequence analysisAdd BLAST28
Regioni920 – 951Calmodulin-bindingSequence analysisAdd BLAST32

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3635. Eukaryota.
ENOG410XPJZ. LUCA.
GeneTreeiENSGT00520000055553.
HOGENOMiHOG000231477.
HOVERGENiHBG097309.
InParanoidiQ93100.
KOiK07190.
OMAiLKGKYGF.
OrthoDBiEOG091G0183.
PhylomeDBiQ93100.
TreeFamiTF313970.

Family and domain databases

InterProiIPR008928. 6-hairpin_glycosidase-like.
IPR011613. Glyco_hydro_15/PHK.
IPR008734. PHK_A/B_su.
[Graphical view]
PANTHERiPTHR10749. PTHR10749. 1 hit.
PfamiPF00723. Glyco_hydro_15. 1 hit.
[Graphical view]
SUPFAMiSSF48208. SSF48208. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q93100-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGAAGLTAE VSWKVLERRA RTKRSGSVYE PLKSINLPRP DNETLWDKLD
60 70 80 90 100
HYYRIVKSTL LLYQSPTTGL FPTKTCGGDQ KAKIQDSLYC AAGAWALALA
110 120 130 140 150
YRRIDDDKGR THELEHSAIK CMRGILYCYM RQADKVQQFK QDPRPTTCLH
160 170 180 190 200
SVFNVHTGDE LLSYEEYGHL QINAVSLYLL YLVEMISSGL QIIYNTDEVS
210 220 230 240 250
FIQNLVFCVE RVYRVPDFGV WERGSKYNNG STELHSSSVG LAKAALEAIN
260 270 280 290 300
GFNLFGNQGC SWSVIFVDLD AHNRNRQTLC SLLPRESRSH NTDAALLPCI
310 320 330 340 350
SYPAFALDDE VLFSQTLDKV VRKLKGKYGF KRFLRDGYRT SLEDPNRCYY
360 370 380 390 400
KPAEIKLFDG IECEFPIFFL YMMIDGVFRG NPKQVQEYQD LLTPVLHHTT
410 420 430 440 450
EGYPVVPKYY YVPADFVEYE KNNPGSQKRF PSNCGRDGKL FLWGQALYII
460 470 480 490 500
AKLLADELIS PKDIDPVQRY VPLKDQRNVS MRFSNQGPLE NDLVVHVALI
510 520 530 540 550
AESQRLQVFL NTYGIQTQTP QQVEPIQIWP QQELVKAYLQ LGINEKLGLS
560 570 580 590 600
GRPDRPIGCL GTSKIYRILG KTVVCYPIIF DLSDFYMSQD VFLLIDDIKN
610 620 630 640 650
ALQFIKQYWK MHGRPLFLVL IREDNIRGSR FNPILDMLAA LKKGIIGGVK
660 670 680 690 700
VHVDRLQTLI SGAVVEQLDF LRISDTEELP EFKSFEELEP PKHSKVKRQS
710 720 730 740 750
STPSAPELGQ QPDVNISEWK DKPTHEILQK LNDCSCLASQ AILLGILLKR
760 770 780 790 800
EGPNFITKEG TVSDHIERVY RRAGSQKLWL AVRYGAAFTQ KFSSSIAPHI
810 820 830 840 850
TTFLVHGKQV TLGAFGHEEE VISNPLSPRV IQNIIYYKCN THDEREAVIQ
860 870 880 890 900
QELVIHIGWI ISNNPELFSG MLKIRIGWII HAMEYELQIR GGDKPALDLY
910 920 930 940 950
QLSPSEVKQL LLDILQPQQN GRCWLNRRQI DGSLNRTPTG FYDRVWQILE
960 970 980 990 1000
RTPNGIIVAG KHLPQQPTLS DMTMYEMNFS LLVEDTLGNI DQPQYRQIVV
1010 1020 1030 1040 1050
ELLMVVSIVL ERNPELEFQD KVDLDRLVKE AFNEFQKDQS RLKEIEKQDD
1060 1070 1080 1090
MTSFYNTPPL GKRGTCSYLT KAVMNLLLEG EVKPNNDDPC LIS
Length:1,093
Mass (Da):124,884
Last modified:January 23, 2007 - v3
Checksum:i48F05EE306195472
GO
Isoform 2 (identifier: Q93100-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MAGAAGLTAEVSWKVLERRARTK → MACSPDAVVSPSSAFL

Show »
Length:1,086
Mass (Da):123,964
Checksum:i3490D62940DA600F
GO
Isoform 3 (identifier: Q93100-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     780-806: LAVRYGAAFTQKFSSSIAPHITTFLVH → SVVRRAASLLSKVVDSLAPSITNVLVQ

Show »
Length:1,093
Mass (Da):124,744
Checksum:iD17DF713DA4DEBE0
GO
Isoform 4 (identifier: Q93100-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MAGAAGLTAEVSWKVLERRARTK → MACSPDAVVSPSSAFL
     780-806: LAVRYGAAFTQKFSSSIAPHITTFLVH → SVVRRAASLLSKVVDSLAPSITNVLVQ

Show »
Length:1,086
Mass (Da):123,824
Checksum:iAD1D7FD99C8EDF9D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015536118A → P in GSD9B. 1 PublicationCorresponds to variant rs121918022dbSNPEnsembl.1
Natural variantiVAR_020857657Q → K.1 PublicationCorresponds to variant rs34667348dbSNPEnsembl.1
Natural variantiVAR_006187770Y → C.2 PublicationsCorresponds to variant rs16945474dbSNPEnsembl.1
Natural variantiVAR_034056820E → V.Corresponds to variant rs9934849dbSNPEnsembl.1
Natural variantiVAR_036486867L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036487877G → R in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs150902092dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0124451 – 23MAGAA…RARTK → MACSPDAVVSPSSAFL in isoform 2 and isoform 4. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_012446780 – 806LAVRY…TFLVH → SVVRRAASLLSKVVDSLAPS ITNVLVQ in isoform 3 and isoform 4. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X84909
, X84911, X84912, X84913, X84914, X84915, X84916, X84917, X84918, X84919, X84920, X84921, X84922, X84923, X84924, X84925, X84926, X84927, X84928, X84929, X84930, X84931, X84933, X84934, X84935, X84936, X84937, X84938 Genomic DNA. Translation: CAA59333.1.
X84908 mRNA. Translation: CAA59332.1.
BC033657 mRNA. Translation: AAH33657.1.
CCDSiCCDS10729.1. [Q93100-1]
CCDS42161.1. [Q93100-4]
PIRiS74250.
S74251.
RefSeqiNP_000284.1. NM_000293.2. [Q93100-1]
NP_001027005.1. NM_001031835.2. [Q93100-4]
XP_005256040.1. XM_005255983.4. [Q93100-3]
XP_005256041.1. XM_005255984.4. [Q93100-4]
UniGeneiHs.78060.

Genome annotation databases

EnsembliENST00000299167; ENSP00000299167; ENSG00000102893. [Q93100-3]
ENST00000323584; ENSP00000313504; ENSG00000102893. [Q93100-1]
ENST00000566044; ENSP00000456729; ENSG00000102893. [Q93100-4]
GeneIDi5257.
KEGGihsa:5257.
UCSCiuc002eeu.5. human. [Q93100-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X84909
, X84911, X84912, X84913, X84914, X84915, X84916, X84917, X84918, X84919, X84920, X84921, X84922, X84923, X84924, X84925, X84926, X84927, X84928, X84929, X84930, X84931, X84933, X84934, X84935, X84936, X84937, X84938 Genomic DNA. Translation: CAA59333.1.
X84908 mRNA. Translation: CAA59332.1.
BC033657 mRNA. Translation: AAH33657.1.
CCDSiCCDS10729.1. [Q93100-1]
CCDS42161.1. [Q93100-4]
PIRiS74250.
S74251.
RefSeqiNP_000284.1. NM_000293.2. [Q93100-1]
NP_001027005.1. NM_001031835.2. [Q93100-4]
XP_005256040.1. XM_005255983.4. [Q93100-3]
XP_005256041.1. XM_005255984.4. [Q93100-4]
UniGeneiHs.78060.

3D structure databases

ProteinModelPortaliQ93100.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111275. 23 interactors.
IntActiQ93100. 9 interactors.
MINTiMINT-1444943.
STRINGi9606.ENSP00000313504.

Chemistry databases

ChEMBLiCHEMBL2111324.

PTM databases

iPTMnetiQ93100.
PhosphoSitePlusiQ93100.

Polymorphism and mutation databases

BioMutaiPHKB.
DMDMi2499582.

Proteomic databases

EPDiQ93100.
MaxQBiQ93100.
PaxDbiQ93100.
PeptideAtlasiQ93100.
PRIDEiQ93100.

Protocols and materials databases

DNASUi5257.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299167; ENSP00000299167; ENSG00000102893. [Q93100-3]
ENST00000323584; ENSP00000313504; ENSG00000102893. [Q93100-1]
ENST00000566044; ENSP00000456729; ENSG00000102893. [Q93100-4]
GeneIDi5257.
KEGGihsa:5257.
UCSCiuc002eeu.5. human. [Q93100-1]

Organism-specific databases

CTDi5257.
DisGeNETi5257.
GeneCardsiPHKB.
GeneReviewsiPHKB.
HGNCiHGNC:8927. PHKB.
MalaCardsiPHKB.
MIMi172490. gene.
261750. phenotype.
neXtProtiNX_Q93100.
OpenTargetsiENSG00000102893.
Orphaneti79240. Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency.
PharmGKBiPA33268.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3635. Eukaryota.
ENOG410XPJZ. LUCA.
GeneTreeiENSGT00520000055553.
HOGENOMiHOG000231477.
HOVERGENiHBG097309.
InParanoidiQ93100.
KOiK07190.
OMAiLKGKYGF.
OrthoDBiEOG091G0183.
PhylomeDBiQ93100.
TreeFamiTF313970.

Enzyme and pathway databases

UniPathwayiUPA00163.
BioCyciMetaCyc:HS02424-MONOMER.
ZFISH:HS02424-MONOMER.
ReactomeiR-HSA-70221. Glycogen breakdown (glycogenolysis).

Miscellaneous databases

ChiTaRSiPHKB. human.
GeneWikiiPHKB.
GenomeRNAii5257.
PROiQ93100.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102893.
CleanExiHS_PHKB.
ExpressionAtlasiQ93100. baseline and differential.
GenevisibleiQ93100. HS.

Family and domain databases

InterProiIPR008928. 6-hairpin_glycosidase-like.
IPR011613. Glyco_hydro_15/PHK.
IPR008734. PHK_A/B_su.
[Graphical view]
PANTHERiPTHR10749. PTHR10749. 1 hit.
PfamiPF00723. Glyco_hydro_15. 1 hit.
[Graphical view]
SUPFAMiSSF48208. SSF48208. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiKPBB_HUMAN
AccessioniPrimary (citable) accession number: Q93100
Secondary accession number(s): Q8N4T5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 162 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.