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Q93100 (KPBB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Phosphorylase b kinase regulatory subunit beta

Short name=Phosphorylase kinase subunit beta
Gene names
Name:PHKB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1093 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 regulation

By phosphorylation of various serine residues By similarity.

Pathway

Glycan biosynthesis; glycogen metabolism.

Subunit structure

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.

Subcellular location

Cell membrane; Lipid-anchor; Cytoplasmic side Potential.

Post-translational modification

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.

Involvement in disease

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. Ref.10

Sequence similarities

Belongs to the phosphorylase b kinase regulatory chain family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PASKQ96RG22EBI-740559,EBI-1042651

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q93100-1)

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.
Isoform 2 (identifier: Q93100-2)

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.
Isoform 3 (identifier: Q93100-3)

The sequence of this isoform differs from the canonical sequence as follows:
     780-806: LAVRYGAAFTQKFSSSIAPHITTFLVH → SVVRRAASLLSKVVDSLAPSITNVLVQ
Isoform 4 (identifier: Q93100-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 10931092Phosphorylase b kinase regulatory subunit beta
PRO_0000057736

Regions

Region7 – 2923Calmodulin-binding Potential
Region768 – 79528Calmodulin-binding Potential
Region920 – 95132Calmodulin-binding Potential

Amino acid modifications

Modified residue21N-acetylalanine By similarity
Modified residue121Phosphoserine; by autocatalysis By similarity
Modified residue271Phosphoserine Ref.5
Modified residue7011Phosphoserine By similarity
Lipidation10901S-farnesyl cysteine By similarity

Natural variations

Alternative sequence2 – 2322AGAAG…RARTK → MACSPDAVVSPSSAFL in isoform 2 and isoform 4.
VSP_012445
Alternative sequence780 – 80627LAVRY…TFLVH → SVVRRAASLLSKVVDSLAPS ITNVLVQ in isoform 3 and isoform 4.
VSP_012446
Natural variant1181A → P in GSD9B. Ref.10
VAR_015536
Natural variant6571Q → K. Ref.11
Corresponds to variant rs34667348 [ dbSNP | Ensembl ].
VAR_020857
Natural variant7701Y → C. Ref.9 Ref.11
Corresponds to variant rs16945474 [ dbSNP | Ensembl ].
VAR_006187
Natural variant8201E → V.
Corresponds to variant rs9934849 [ dbSNP | Ensembl ].
VAR_034056
Natural variant8671L → V in a breast cancer sample; somatic mutation. Ref.12
VAR_036486
Natural variant8771G → R in a breast cancer sample; somatic mutation. Ref.12
VAR_036487

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 48F05EE306195472

FASTA1,093124,884
        10         20         30         40         50         60 
MAGAAGLTAE VSWKVLERRA RTKRSGSVYE PLKSINLPRP DNETLWDKLD HYYRIVKSTL 

        70         80         90        100        110        120 
LLYQSPTTGL FPTKTCGGDQ KAKIQDSLYC AAGAWALALA YRRIDDDKGR THELEHSAIK 

       130        140        150        160        170        180 
CMRGILYCYM RQADKVQQFK QDPRPTTCLH SVFNVHTGDE LLSYEEYGHL QINAVSLYLL 

       190        200        210        220        230        240 
YLVEMISSGL QIIYNTDEVS FIQNLVFCVE RVYRVPDFGV WERGSKYNNG STELHSSSVG 

       250        260        270        280        290        300 
LAKAALEAIN GFNLFGNQGC SWSVIFVDLD AHNRNRQTLC SLLPRESRSH NTDAALLPCI 

       310        320        330        340        350        360 
SYPAFALDDE VLFSQTLDKV VRKLKGKYGF KRFLRDGYRT SLEDPNRCYY KPAEIKLFDG 

       370        380        390        400        410        420 
IECEFPIFFL YMMIDGVFRG NPKQVQEYQD LLTPVLHHTT EGYPVVPKYY YVPADFVEYE 

       430        440        450        460        470        480 
KNNPGSQKRF PSNCGRDGKL FLWGQALYII AKLLADELIS PKDIDPVQRY VPLKDQRNVS 

       490        500        510        520        530        540 
MRFSNQGPLE NDLVVHVALI AESQRLQVFL NTYGIQTQTP QQVEPIQIWP QQELVKAYLQ 

       550        560        570        580        590        600 
LGINEKLGLS GRPDRPIGCL GTSKIYRILG KTVVCYPIIF DLSDFYMSQD VFLLIDDIKN 

       610        620        630        640        650        660 
ALQFIKQYWK MHGRPLFLVL IREDNIRGSR FNPILDMLAA LKKGIIGGVK VHVDRLQTLI 

       670        680        690        700        710        720 
SGAVVEQLDF LRISDTEELP EFKSFEELEP PKHSKVKRQS STPSAPELGQ QPDVNISEWK 

       730        740        750        760        770        780 
DKPTHEILQK LNDCSCLASQ AILLGILLKR EGPNFITKEG TVSDHIERVY RRAGSQKLWL 

       790        800        810        820        830        840 
AVRYGAAFTQ KFSSSIAPHI TTFLVHGKQV TLGAFGHEEE VISNPLSPRV IQNIIYYKCN 

       850        860        870        880        890        900 
THDEREAVIQ QELVIHIGWI ISNNPELFSG MLKIRIGWII HAMEYELQIR GGDKPALDLY 

       910        920        930        940        950        960 
QLSPSEVKQL LLDILQPQQN GRCWLNRRQI DGSLNRTPTG FYDRVWQILE RTPNGIIVAG 

       970        980        990       1000       1010       1020 
KHLPQQPTLS DMTMYEMNFS LLVEDTLGNI DQPQYRQIVV ELLMVVSIVL ERNPELEFQD 

      1030       1040       1050       1060       1070       1080 
KVDLDRLVKE AFNEFQKDQS RLKEIEKQDD MTSFYNTPPL GKRGTCSYLT KAVMNLLLEG 

      1090 
EVKPNNDDPC LIS 

« Hide

Isoform 2 [UniParc].

Checksum: E825398302B83341
Show »

FASTA1,087124,095
Isoform 3 [UniParc].

Checksum: D17DF713DA4DEBE0
Show »

FASTA1,093124,744
Isoform 4 [UniParc].

Checksum: 71A89073DEEC8CD3
Show »

FASTA1,087123,955

References

« Hide 'large scale' references
[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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-27, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-867 AND ARG-877.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X84909 expand/collapse EMBL AC list , 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.
PIRS74250.
S74251.
RefSeqNP_000284.1. NM_000293.2.
NP_001027005.1. NM_001031835.2.
XP_005256040.1. XM_005255983.2.
XP_005256041.1. XM_005255984.2.
UniGeneHs.78060.

3D structure databases

ProteinModelPortalQ93100.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111275. 8 interactions.
IntActQ93100. 5 interactions.
MINTMINT-1444943.
STRING9606.ENSP00000313504.

Chemistry

BindingDBQ93100.
ChEMBLCHEMBL2111324.

PTM databases

PhosphoSiteQ93100.

Polymorphism databases

DMDM2499582.

Proteomic databases

PaxDbQ93100.
PRIDEQ93100.

Protocols and materials databases

DNASU5257.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299167; ENSP00000299167; ENSG00000102893. [Q93100-3]
ENST00000323584; ENSP00000313504; ENSG00000102893. [Q93100-1]
ENST00000455779; ENSP00000414345; ENSG00000102893. [Q93100-2]
ENST00000566044; ENSP00000456729; ENSG00000102893. [Q93100-4]
GeneID5257.
KEGGhsa:5257.
UCSCuc002eeu.4. human. [Q93100-4]
uc002eev.4. human. [Q93100-1]

Organism-specific databases

CTD5257.
GeneCardsGC16P047436.
HGNCHGNC:8927. PHKB.
MIM172490. gene.
261750. phenotype.
neXtProtNX_Q93100.
Orphanet79240. Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency.
PharmGKBPA33268.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG82518.
HOGENOMHOG000231477.
HOVERGENHBG097309.
InParanoidQ93100.
KOK07190.
OMALKGKYGF.
OrthoDBEOG73Z2SM.
PhylomeDBQ93100.
TreeFamTF313970.

Enzyme and pathway databases

BioCycMetaCyc:HS02424-MONOMER.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00163.

Gene expression databases

ArrayExpressQ93100.
BgeeQ93100.
CleanExHS_PHKB.
GenevestigatorQ93100.

Family and domain databases

InterProIPR008928. 6-hairpin_glycosidase-like.
IPR011613. Glyco_hydro_15.
IPR008734. PHK_A/B_su.
[Graphical view]
PANTHERPTHR10749. PTHR10749. 1 hit.
PfamPF00723. Glyco_hydro_15. 1 hit.
[Graphical view]
SUPFAMSSF48208. SSF48208. 1 hit.
ProtoNetSearch...

Other

ChiTaRSPHKB. human.
GeneWikiPHKB.
GenomeRNAi5257.
NextBio20308.
PROQ93100.
SOURCESearch...

Entry information

Entry nameKPBB_HUMAN
AccessionPrimary (citable) accession number: Q93100
Secondary accession number(s): Q8N4T5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2007
Last modified: April 16, 2014
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM