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Q93100

- KPBB_HUMAN

UniProt

Q93100 - KPBB_HUMAN

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Protein

Phosphorylase b kinase regulatory subunit beta

Gene
PHKB
Organism
Homo sapiens (Human)
Status
Reviewed - 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

GO - Molecular functioni

  1. hydrolase activity, hydrolyzing O-glycosyl compounds Source: InterPro
  2. phosphorylase kinase activity Source: Ensembl
  3. protein binding Source: IntAct

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. generation of precursor metabolites and energy Source: ProtInc
  3. glucose metabolic process Source: Reactome
  4. glycogen catabolic process Source: Reactome
  5. glycogen metabolic process Source: ProtInc
  6. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Carbohydrate metabolism, Glycogen metabolism

Keywords - Ligandi

Calmodulin-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02424-MONOMER.
ReactomeiREACT_1008. 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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:8927. PHKB.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. phosphorylase kinase complex Source: Ensembl
  3. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti118 – 1181A → P in GSD9B. 1 Publication
VAR_015536

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 10931092Phosphorylase b kinase regulatory subunit betaPRO_0000057736Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine By similarity
Modified residuei12 – 121Phosphoserine; by autocatalysis By similarity
Modified residuei27 – 271Phosphoserine1 Publication
Modified residuei701 – 7011Phosphoserine By similarity
Lipidationi1090 – 10901S-farnesyl cysteine By similarity

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

MaxQBiQ93100.
PaxDbiQ93100.
PRIDEiQ93100.

PTM databases

PhosphoSiteiQ93100.

Expressioni

Gene expression databases

ArrayExpressiQ93100.
BgeeiQ93100.
CleanExiHS_PHKB.
GenevestigatoriQ93100.

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
PASKQ96RG22EBI-740559,EBI-1042651

Protein-protein interaction databases

BioGridi111275. 9 interactions.
IntActiQ93100. 5 interactions.
MINTiMINT-1444943.
STRINGi9606.ENSP00000313504.

Structurei

3D structure databases

ProteinModelPortaliQ93100.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni7 – 2923Calmodulin-binding Reviewed predictionAdd
BLAST
Regioni768 – 79528Calmodulin-binding Reviewed predictionAdd
BLAST
Regioni920 – 95132Calmodulin-binding Reviewed predictionAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG82518.
HOGENOMiHOG000231477.
HOVERGENiHBG097309.
InParanoidiQ93100.
KOiK07190.
OMAiLKGKYGF.
OrthoDBiEOG73Z2SM.
PhylomeDBiQ93100.
TreeFamiTF313970.

Family and domain databases

InterProiIPR008928. 6-hairpin_glycosidase-like.
IPR011613. Glyco_hydro_15.
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. Align

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

MAGAAGLTAE VSWKVLERRA RTKRSGSVYE PLKSINLPRP DNETLWDKLD     50
HYYRIVKSTL LLYQSPTTGL FPTKTCGGDQ KAKIQDSLYC AAGAWALALA 100
YRRIDDDKGR THELEHSAIK CMRGILYCYM RQADKVQQFK QDPRPTTCLH 150
SVFNVHTGDE LLSYEEYGHL QINAVSLYLL YLVEMISSGL QIIYNTDEVS 200
FIQNLVFCVE RVYRVPDFGV WERGSKYNNG STELHSSSVG LAKAALEAIN 250
GFNLFGNQGC SWSVIFVDLD AHNRNRQTLC SLLPRESRSH NTDAALLPCI 300
SYPAFALDDE VLFSQTLDKV VRKLKGKYGF KRFLRDGYRT SLEDPNRCYY 350
KPAEIKLFDG IECEFPIFFL YMMIDGVFRG NPKQVQEYQD LLTPVLHHTT 400
EGYPVVPKYY YVPADFVEYE KNNPGSQKRF PSNCGRDGKL FLWGQALYII 450
AKLLADELIS PKDIDPVQRY VPLKDQRNVS MRFSNQGPLE NDLVVHVALI 500
AESQRLQVFL NTYGIQTQTP QQVEPIQIWP QQELVKAYLQ LGINEKLGLS 550
GRPDRPIGCL GTSKIYRILG KTVVCYPIIF DLSDFYMSQD VFLLIDDIKN 600
ALQFIKQYWK MHGRPLFLVL IREDNIRGSR FNPILDMLAA LKKGIIGGVK 650
VHVDRLQTLI SGAVVEQLDF LRISDTEELP EFKSFEELEP PKHSKVKRQS 700
STPSAPELGQ QPDVNISEWK DKPTHEILQK LNDCSCLASQ AILLGILLKR 750
EGPNFITKEG TVSDHIERVY RRAGSQKLWL AVRYGAAFTQ KFSSSIAPHI 800
TTFLVHGKQV TLGAFGHEEE VISNPLSPRV IQNIIYYKCN THDEREAVIQ 850
QELVIHIGWI ISNNPELFSG MLKIRIGWII HAMEYELQIR GGDKPALDLY 900
QLSPSEVKQL LLDILQPQQN GRCWLNRRQI DGSLNRTPTG FYDRVWQILE 950
RTPNGIIVAG KHLPQQPTLS DMTMYEMNFS LLVEDTLGNI DQPQYRQIVV 1000
ELLMVVSIVL ERNPELEFQD KVDLDRLVKE AFNEFQKDQS RLKEIEKQDD 1050
MTSFYNTPPL GKRGTCSYLT KAVMNLLLEG EVKPNNDDPC LIS 1093
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:
     2-23: AGAAGLTAEVSWKVLERRARTK → MACSPDAVVSPSSAFL

Note: Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4.

Show »
Length:1,087
Mass (Da):124,095
Checksum:iE825398302B83341
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:
     2-23: AGAAGLTAEVSWKVLERRARTK → MACSPDAVVSPSSAFL
     780-806: LAVRYGAAFTQKFSSSIAPHITTFLVH → SVVRRAASLLSKVVDSLAPSITNVLVQ

Note: Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4.

Show »
Length:1,087
Mass (Da):123,955
Checksum:i71A89073DEEC8CD3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti118 – 1181A → P in GSD9B. 1 Publication
VAR_015536
Natural varianti657 – 6571Q → K.1 Publication
Corresponds to variant rs34667348 [ dbSNP | Ensembl ].
VAR_020857
Natural varianti770 – 7701Y → C.2 Publications
Corresponds to variant rs16945474 [ dbSNP | Ensembl ].
VAR_006187
Natural varianti820 – 8201E → V.
Corresponds to variant rs9934849 [ dbSNP | Ensembl ].
VAR_034056
Natural varianti867 – 8671L → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_036486
Natural varianti877 – 8771G → R in a breast cancer sample; somatic mutation. 1 Publication
VAR_036487

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2 – 2322AGAAG…RARTK → MACSPDAVVSPSSAFL in isoform 2 and isoform 4. VSP_012445Add
BLAST
Alternative sequencei780 – 80627LAVRY…TFLVH → SVVRRAASLLSKVVDSLAPS ITNVLVQ in isoform 3 and isoform 4. VSP_012446Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
PIRiS74250.
S74251.
RefSeqiNP_000284.1. NM_000293.2. [Q93100-1]
NP_001027005.1. NM_001031835.2.
XP_005256040.1. XM_005255983.2. [Q93100-3]
XP_005256041.1. XM_005255984.2.
UniGeneiHs.78060.

Genome annotation databases

EnsembliENST00000299167; ENSP00000299167; ENSG00000102893. [Q93100-3]
ENST00000323584; ENSP00000313504; ENSG00000102893. [Q93100-1]
ENST00000455779; ENSP00000414345; ENSG00000102893. [Q93100-2]
ENST00000566044; ENSP00000456729; ENSG00000102893. [Q93100-4]
GeneIDi5257.
KEGGihsa:5257.
UCSCiuc002eeu.4. human. [Q93100-4]
uc002eev.4. human. [Q93100-1]

Polymorphism databases

DMDMi2499582.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10729.1. [Q93100-1 ]
PIRi S74250.
S74251.
RefSeqi NP_000284.1. NM_000293.2. [Q93100-1 ]
NP_001027005.1. NM_001031835.2.
XP_005256040.1. XM_005255983.2. [Q93100-3 ]
XP_005256041.1. XM_005255984.2.
UniGenei Hs.78060.

3D structure databases

ProteinModelPortali Q93100.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111275. 9 interactions.
IntActi Q93100. 5 interactions.
MINTi MINT-1444943.
STRINGi 9606.ENSP00000313504.

Chemistry

BindingDBi Q93100.
ChEMBLi CHEMBL2111324.

PTM databases

PhosphoSitei Q93100.

Polymorphism databases

DMDMi 2499582.

Proteomic databases

MaxQBi Q93100.
PaxDbi Q93100.
PRIDEi Q93100.

Protocols and materials databases

DNASUi 5257.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299167 ; ENSP00000299167 ; ENSG00000102893 . [Q93100-3 ]
ENST00000323584 ; ENSP00000313504 ; ENSG00000102893 . [Q93100-1 ]
ENST00000455779 ; ENSP00000414345 ; ENSG00000102893 . [Q93100-2 ]
ENST00000566044 ; ENSP00000456729 ; ENSG00000102893 . [Q93100-4 ]
GeneIDi 5257.
KEGGi hsa:5257.
UCSCi uc002eeu.4. human. [Q93100-4 ]
uc002eev.4. human. [Q93100-1 ]

Organism-specific databases

CTDi 5257.
GeneCardsi GC16P047436.
GeneReviewsi PHKB.
HGNCi HGNC:8927. PHKB.
MIMi 172490. gene.
261750. phenotype.
neXtProti NX_Q93100.
Orphaneti 79240. Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency.
PharmGKBi PA33268.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG82518.
HOGENOMi HOG000231477.
HOVERGENi HBG097309.
InParanoidi Q93100.
KOi K07190.
OMAi LKGKYGF.
OrthoDBi EOG73Z2SM.
PhylomeDBi Q93100.
TreeFami TF313970.

Enzyme and pathway databases

UniPathwayi UPA00163 .
BioCyci MetaCyc:HS02424-MONOMER.
Reactomei REACT_1008. Glycogen breakdown (glycogenolysis).

Miscellaneous databases

ChiTaRSi PHKB. human.
GeneWikii PHKB.
GenomeRNAii 5257.
NextBioi 20308.
PROi Q93100.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q93100.
Bgeei Q93100.
CleanExi HS_PHKB.
Genevestigatori Q93100.

Family and domain databases

InterProi IPR008928. 6-hairpin_glycosidase-like.
IPR011613. Glyco_hydro_15.
IPR008734. PHK_A/B_su.
[Graphical view ]
PANTHERi PTHR10749. PTHR10749. 1 hit.
Pfami PF00723. Glyco_hydro_15. 1 hit.
[Graphical view ]
SUPFAMi SSF48208. SSF48208. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB)."
    Wuellrich-Schmoll A., Kilimann M.W.
    Eur. J. Biochem. 238:374-380(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Uterus.
  3. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-27, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2 (ISOFORMS 2 AND 4), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-4 (ISOFORMS 2 AND 4), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB)."
    van den Berg I.E.T., van Beurden E.A.C.M., de Klerk J.B.C., van Diggelen O.P., Malingre H.E.M., Boer M.M., Berger R.
    Am. J. Hum. Genet. 61:539-546(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-770.
  10. "Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB)."
    Burwinkel B., Moses S.W., Kilimann M.W.
    Hum. Genet. 101:170-174(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD9B PRO-118.
  11. "Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases."
    Burwinkel B., Hu B., Schroers A., Clemens P.R., Moses S.W., Shin Y.S., Pongratz D., Vorgerd M., Kilimann M.W.
    Eur. J. Hum. Genet. 11:516-526(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LYS-657 AND CYS-770.
  12. Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-867 AND ARG-877.

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: September 3, 2014
This is version 138 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

External Data

Dasty 3

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