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Q93100

- KPBB_HUMAN

UniProt

Q93100 - KPBB_HUMAN

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
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    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

    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

    Cell membrane Curated; Lipid-anchor Curated; Cytoplasmic side Curated

    GO - Cellular componenti

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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 11RemovedBy similarity
    Chaini2 – 10931092Phosphorylase b kinase regulatory subunit betaPRO_0000057736Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanineBy similarity
    Modified residuei12 – 121Phosphoserine; by autocatalysisBy similarity
    Modified residuei27 – 271Phosphoserine1 Publication
    Modified residuei701 – 7011PhosphoserineBy similarity
    Lipidationi1090 – 10901S-farnesyl cysteineBy similarity

    Post-translational modificationi

    Ser-701 is probably phosphorylated by PKA.1 Publication
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni7 – 2923Calmodulin-bindingSequence AnalysisAdd
    BLAST
    Regioni768 – 79528Calmodulin-bindingSequence AnalysisAdd
    BLAST
    Regioni920 – 95132Calmodulin-bindingSequence AnalysisAdd
    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. 1 PublicationVSP_012445Add
    BLAST
    Alternative sequencei780 – 80627LAVRY…TFLVH → SVVRRAASLLSKVVDSLAPS ITNVLVQ in isoform 3 and isoform 4. 1 PublicationVSP_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]
    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 ]
    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

    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: October 1, 2014
    This is version 139 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