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P46019

- KPB2_HUMAN

UniProt

P46019 - KPB2_HUMAN

Protein

Phosphorylase b kinase regulatory subunit alpha, liver isoform

Gene

PHKA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 1 (01 Nov 1995)
      Previous versions | rss
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    Functioni

    Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.

    Enzyme regulationi

    By phosphorylation of various serine residues and by calcium.

    Pathwayi

    GO - Molecular functioni

    1. hydrolase activity, hydrolyzing O-glycosyl compounds Source: InterPro
    2. phosphorylase kinase activity Source: ProtInc

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. cellular protein modification process Source: ProtInc
    3. generation of precursor metabolites and energy Source: ProtInc
    4. glucose metabolic process Source: Reactome
    5. glycogen catabolic process Source: Reactome
    6. protein phosphorylation Source: GOC
    7. small molecule metabolic process Source: Reactome

    Keywords - Biological processi

    Carbohydrate metabolism, Glycogen metabolism

    Keywords - Ligandi

    Calmodulin-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00576-MONOMER.
    ReactomeiREACT_1008. Glycogen breakdown (glycogenolysis).
    UniPathwayiUPA00163.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphorylase b kinase regulatory subunit alpha, liver isoform
    Short name:
    Phosphorylase kinase alpha L subunit
    Gene namesi
    Name:PHKA2
    Synonyms:PHKLA, PYK
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:8926. PHKA2.

    Subcellular locationi

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

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Glycogen storage disease 9A (GSD9A) [MIM:306000]: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201T → TYNTAT in GSD9A.
    VAR_062393
    Natural varianti132 – 1321H → P in GSD9A; type 2. 1 Publication
    VAR_006177
    Natural varianti132 – 1321H → Y in GSD9A; type 2. 1 Publication
    VAR_006178
    Natural varianti141 – 1411Missing in GSD9A; type 1. 1 Publication
    VAR_006179
    Natural varianti186 – 1861R → C in GSD9A; type 2. 2 Publications
    VAR_006180
    Natural varianti186 – 1861R → H in GSD9A; type 2. 2 Publications
    VAR_006181
    Natural varianti189 – 1902Missing in GSD9A; type 2.
    VAR_012270
    Natural varianti189 – 1891K → E in GSD9A; type 2. 1 Publication
    VAR_012269
    Natural varianti193 – 1931G → V in GSD9A; type 2. 1 Publication
    VAR_012271
    Natural varianti251 – 2511Missing in GSD9A; type 2. 1 Publication
    VAR_006182
    Natural varianti295 – 2951R → H in GSD9A; type 1 and type 2. 1 Publication
    VAR_012272
    Natural varianti299 – 2991D → G in GSD9A; type 2. 2 Publications
    VAR_006183
    Natural varianti399 – 3991P → S in GSD9A; type 1. 1 Publication
    VAR_012273
    Natural varianti498 – 4981P → L in GSD9A. 1 Publication
    VAR_062394
    Natural varianti818 – 8258Missing in GSD9A; type 1.
    VAR_012274
    Natural varianti869 – 8691P → R in GSD9A. 1 Publication
    VAR_062395
    Natural varianti916 – 9161R → W in GSD9A. 1 Publication
    VAR_062396
    Natural varianti953 – 9542NL → I in GSD9A; type 1.
    VAR_012275
    Natural varianti1070 – 10701Missing in GSD9A. 1 Publication
    VAR_062397
    Natural varianti1111 – 11111R → RTR in GSD9A; type 2.
    VAR_006184
    Natural varianti1113 – 11131M → I in GSD9A. 1 Publication
    VAR_062398
    Natural varianti1114 – 11141T → I in GSD9A; type 2. 1 Publication
    VAR_006185
    Natural varianti1125 – 11251E → K in GSD9A; type 1. 1 Publication
    VAR_012276
    Natural varianti1205 – 12051P → L in GSD9A; type 1. 1 Publication
    VAR_006186
    Natural varianti1207 – 12071G → W in GSD9A; type 1. 1 Publication
    VAR_012277

    Keywords - Diseasei

    Disease mutation, Glycogen storage disease

    Organism-specific databases

    MIMi306000. phenotype.
    Orphaneti264580. Glycogen storage disease due to liver phosphorylase kinase deficiency.
    PharmGKBiPA33267.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12351235Phosphorylase b kinase regulatory subunit alpha, liver isoformPRO_0000057730Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei729 – 7291Phosphoserine4 Publications
    Modified residuei735 – 7351Phosphoserine2 Publications
    Modified residuei1015 – 10151Phosphoserine3 Publications
    Lipidationi1232 – 12321S-farnesyl cysteineBy similarity

    Post-translational modificationi

    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

    Lipoprotein, Phosphoprotein, Prenylation

    Proteomic databases

    MaxQBiP46019.
    PaxDbiP46019.
    PRIDEiP46019.

    PTM databases

    PhosphoSiteiP46019.

    Expressioni

    Tissue specificityi

    Predominantly expressed in liver and other non-muscle tissues.

    Gene expression databases

    BgeeiP46019.
    CleanExiHS_PHKA2.
    GenevestigatoriP46019.

    Organism-specific databases

    HPAiHPA002912.

    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.

    Protein-protein interaction databases

    BioGridi111274. 10 interactions.
    IntActiP46019. 4 interactions.
    MINTiMINT-1185164.
    STRINGi9606.ENSP00000369274.

    Structurei

    3D structure databases

    ProteinModelPortaliP46019.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni807 – 83731Calmodulin-bindingSequence AnalysisAdd
    BLAST
    Regioni1059 – 109941Calmodulin-bindingSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG82518.
    HOGENOMiHOG000231478.
    HOVERGENiHBG000273.
    InParanoidiP46019.
    KOiK07190.
    OMAiPRDDHGD.
    OrthoDBiEOG73V6JF.
    PhylomeDBiP46019.
    TreeFamiTF313970.

    Family and domain databases

    Gene3Di1.50.10.10. 1 hit.
    InterProiIPR008928. 6-hairpin_glycosidase-like.
    IPR012341. 6hp_glycosidase.
    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.

    Sequencei

    Sequence statusi: Complete.

    P46019-1 [UniParc]FASTAAdd to Basket

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    MRSRSNSGVR LDGYARLVQQ TILCYQNPVT GLLSASHEQK DAWVRDNIYS     50
    ILAVWGLGMA YRKNADRDED KAKAYELEQN VVKLMRGLLQ CMMRQVAKVE 100
    KFKHTQSTKD SLHAKYNTAT CGTVVGDDQW GHLQVDATSL FLLFLAQMTA 150
    SGLRIIFTLD EVAFIQNLVF YIEAAYKVAD YGMWERGDKT NQGIPELNAS 200
    SVGMAKAALE AIDELDLFGA HGGRKSVIHV LPDEVEHCQS ILFSMLPRAS 250
    TSKEIDAGLL SIISFPAFAV EDVNLVNVTK NEIISKLQGR YGCCRFLRDG 300
    YKTPREDPNR LHYDPAELKL FENIECEWPV FWTYFIIDGV FSGDAVQVQE 350
    YREALEGILI RGKNGIRLVP ELYAVPPNKV DEEYKNPHTV DRVPMGKVPH 400
    LWGQSLYILS SLLAEGFLAA GEIDPLNRRF STSVKPDVVV QVTVLAENNH 450
    IKDLLRKHGV NVQSIADIHP IQVQPGRILS HIYAKLGRNK NMNLSGRPYR 500
    HIGVLGTSKL YVIRNQIFTF TPQFTDQHHF YLALDNEMIV EMLRIELAYL 550
    CTCWRMTGRP TLTFPISRTM LTNDGSDIHS AVLSTIRKLE DGYFGGARVK 600
    LGNLSEFLTT SFYTYLTFLD PDCDEKLFDN ASEGTFSPDS DSDLVGYLED 650
    TCNQESQDEL DHYINHLLQS TSLRSYLPPL CKNTEDRHVF SAIHSTRDIL 700
    SVMAKAKGLE VPFVPMTLPT KVLSAHRKSL NLVDSPQPLL EKVPESDFQW 750
    PRDDHGDVDC EKLVEQLKDC SNLQDQADIL YILYVIKGPS WDTNLSGQHG 800
    VTVQNLLGEL YGKAGLNQEW GLIRYISGLL RKKVEVLAEA CTDLLSHQKQ 850
    LTVGLPPEPR EKIISAPLPP EELTKLIYEA SGQDISIAVL TQEIVVYLAM 900
    YVRAQPSLFV EMLRLRIGLI IQVMATELAR SLNCSGEEAS ESLMNLSPFD 950
    MKNLLHHILS GKEFGVERSV RPIHSSTSSP TISIHEVGHT GVTKTERSGI 1000
    NRLRSEMKQM TRRFSADEQF FSVGQAASSS AHSSKSARSS TPSSPTGTSS 1050
    SDSGGHHIGW GERQGQWLRR RRLDGAINRV PVGFYQRVWK ILQKCHGLSI 1100
    DGYVLPSSTT REMTPHEIKF AVHVESVLNR VPQPEYRQLL VEAIMVLTLL 1150
    SDTEMTSIGG IIHVDQIVQM ASQLFLQDQV SIGAMDTLEK DQATGICHFF 1200
    YDSAPSGAYG TMTYLTRAVA SYLQELLPNS GCQMQ 1235
    Length:1,235
    Mass (Da):138,408
    Last modified:November 1, 1995 - v1
    Checksum:i6CA10CFFA86A582A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti527 – 5271Q → E in AAH14036. (PubMed:15489334)Curated
    Sequence conflicti756 – 7561G → S in AAH14036. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381E → Q.
    Corresponds to variant rs17313469 [ dbSNP | Ensembl ].
    VAR_024563
    Natural varianti120 – 1201T → TYNTAT in GSD9A.
    VAR_062393
    Natural varianti132 – 1321H → P in GSD9A; type 2. 1 Publication
    VAR_006177
    Natural varianti132 – 1321H → Y in GSD9A; type 2. 1 Publication
    VAR_006178
    Natural varianti141 – 1411Missing in GSD9A; type 1. 1 Publication
    VAR_006179
    Natural varianti186 – 1861R → C in GSD9A; type 2. 2 Publications
    VAR_006180
    Natural varianti186 – 1861R → H in GSD9A; type 2. 2 Publications
    VAR_006181
    Natural varianti189 – 1902Missing in GSD9A; type 2.
    VAR_012270
    Natural varianti189 – 1891K → E in GSD9A; type 2. 1 Publication
    VAR_012269
    Natural varianti193 – 1931G → V in GSD9A; type 2. 1 Publication
    VAR_012271
    Natural varianti251 – 2511Missing in GSD9A; type 2. 1 Publication
    VAR_006182
    Natural varianti295 – 2951R → H in GSD9A; type 1 and type 2. 1 Publication
    VAR_012272
    Natural varianti299 – 2991D → G in GSD9A; type 2. 2 Publications
    VAR_006183
    Natural varianti399 – 3991P → S in GSD9A; type 1. 1 Publication
    VAR_012273
    Natural varianti416 – 4161G → R.
    Corresponds to variant rs16980929 [ dbSNP | Ensembl ].
    VAR_050518
    Natural varianti498 – 4981P → L in GSD9A. 1 Publication
    VAR_062394
    Natural varianti818 – 8258Missing in GSD9A; type 1.
    VAR_012274
    Natural varianti869 – 8691P → R in GSD9A. 1 Publication
    VAR_062395
    Natural varianti916 – 9161R → W in GSD9A. 1 Publication
    VAR_062396
    Natural varianti953 – 9542NL → I in GSD9A; type 1.
    VAR_012275
    Natural varianti1070 – 10701Missing in GSD9A. 1 Publication
    VAR_062397
    Natural varianti1111 – 11111R → RTR in GSD9A; type 2.
    VAR_006184
    Natural varianti1113 – 11131M → I in GSD9A. 1 Publication
    VAR_062398
    Natural varianti1114 – 11141T → I in GSD9A; type 2. 1 Publication
    VAR_006185
    Natural varianti1125 – 11251E → K in GSD9A; type 1. 1 Publication
    VAR_012276
    Natural varianti1205 – 12051P → L in GSD9A; type 1. 1 Publication
    VAR_006186
    Natural varianti1207 – 12071G → W in GSD9A; type 1. 1 Publication
    VAR_012277

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X80497 mRNA. Translation: CAA56662.1.
    D38616 mRNA. Translation: BAA07606.1.
    AF044572
    , AF044540, AF044541, AF044542, AF044543, AF044544, AF044545, AF044546, AF044547, AF044548, AF044549, AF044550, AF044551, AF044552, AF044553, AF044554, AF044555, AF044556, AF044557, AF044558, AF044559, AF044560, AF044561, AF044562, AF044563, AF044564, AF044565, AF044566, AF044567, AF044568, AF044569, AF044570, AF044571 Genomic DNA. Translation: AAD32846.1.
    AK289996 mRNA. Translation: BAF82685.1.
    AL096700, AL732509 Genomic DNA. Translation: CAB86408.2.
    AL732509, AL096700 Genomic DNA. Translation: CAI41680.1.
    CH471074 Genomic DNA. Translation: EAW98951.1.
    BC014036 mRNA. Translation: AAH14036.1.
    Y15154 Genomic DNA. Translation: CAA75421.1.
    X73875 mRNA. Translation: CAA52084.1.
    CCDSiCCDS14190.1.
    RefSeqiNP_000283.1. NM_000292.2.
    UniGeneiHs.54941.

    Genome annotation databases

    EnsembliENST00000379942; ENSP00000369274; ENSG00000044446.
    GeneIDi5256.
    KEGGihsa:5256.
    UCSCiuc004cyv.4. human.

    Polymorphism databases

    DMDMi1170685.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X80497 mRNA. Translation: CAA56662.1 .
    D38616 mRNA. Translation: BAA07606.1 .
    AF044572
    , AF044540 , AF044541 , AF044542 , AF044543 , AF044544 , AF044545 , AF044546 , AF044547 , AF044548 , AF044549 , AF044550 , AF044551 , AF044552 , AF044553 , AF044554 , AF044555 , AF044556 , AF044557 , AF044558 , AF044559 , AF044560 , AF044561 , AF044562 , AF044563 , AF044564 , AF044565 , AF044566 , AF044567 , AF044568 , AF044569 , AF044570 , AF044571 Genomic DNA. Translation: AAD32846.1 .
    AK289996 mRNA. Translation: BAF82685.1 .
    AL096700 , AL732509 Genomic DNA. Translation: CAB86408.2 .
    AL732509 , AL096700 Genomic DNA. Translation: CAI41680.1 .
    CH471074 Genomic DNA. Translation: EAW98951.1 .
    BC014036 mRNA. Translation: AAH14036.1 .
    Y15154 Genomic DNA. Translation: CAA75421.1 .
    X73875 mRNA. Translation: CAA52084.1 .
    CCDSi CCDS14190.1.
    RefSeqi NP_000283.1. NM_000292.2.
    UniGenei Hs.54941.

    3D structure databases

    ProteinModelPortali P46019.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111274. 10 interactions.
    IntActi P46019. 4 interactions.
    MINTi MINT-1185164.
    STRINGi 9606.ENSP00000369274.

    Chemistry

    BindingDBi P46019.
    ChEMBLi CHEMBL2111324.

    PTM databases

    PhosphoSitei P46019.

    Polymorphism databases

    DMDMi 1170685.

    Proteomic databases

    MaxQBi P46019.
    PaxDbi P46019.
    PRIDEi P46019.

    Protocols and materials databases

    DNASUi 5256.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000379942 ; ENSP00000369274 ; ENSG00000044446 .
    GeneIDi 5256.
    KEGGi hsa:5256.
    UCSCi uc004cyv.4. human.

    Organism-specific databases

    CTDi 5256.
    GeneCardsi GC0XM018910.
    GeneReviewsi PHKA2.
    H-InvDB HIX0176778.
    HGNCi HGNC:8926. PHKA2.
    HPAi HPA002912.
    MIMi 300798. gene.
    306000. phenotype.
    neXtProti NX_P46019.
    Orphaneti 264580. Glycogen storage disease due to liver phosphorylase kinase deficiency.
    PharmGKBi PA33267.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82518.
    HOGENOMi HOG000231478.
    HOVERGENi HBG000273.
    InParanoidi P46019.
    KOi K07190.
    OMAi PRDDHGD.
    OrthoDBi EOG73V6JF.
    PhylomeDBi P46019.
    TreeFami TF313970.

    Enzyme and pathway databases

    UniPathwayi UPA00163 .
    BioCyci MetaCyc:HS00576-MONOMER.
    Reactomei REACT_1008. Glycogen breakdown (glycogenolysis).

    Miscellaneous databases

    GeneWikii PHKA2.
    GenomeRNAii 5256.
    NextBioi 20304.
    PROi P46019.
    SOURCEi Search...

    Gene expression databases

    Bgeei P46019.
    CleanExi HS_PHKA2.
    Genevestigatori P46019.

    Family and domain databases

    Gene3Di 1.50.10.10. 1 hit.
    InterProi IPR008928. 6-hairpin_glycosidase-like.
    IPR012341. 6hp_glycosidase.
    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. "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit."
      van den Berg I.E.T., van Beurden E.A.C.M., Malingre H.E.M., Ploos van Amstel H.K., Poll-The B.T., Smeitink J.A.M., Lamers W.H., Berger R.
      Am. J. Hum. Genet. 56:381-387(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GSD9A PHE-141 DEL AND LEU-1205.
      Tissue: Liver.
    2. "Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency."
      Hirono H., Hayasaka K., Sato W., Takahashi T., Takada G.
      Biochem. Mol. Biol. Int. 36:505-511(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GSD9A VAL-193.
      Tissue: Liver.
    3. "Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II."
      Hendrickx J., Lee P., Keating J.P., Carton D., Sardharwalla I.B., Tuchman M., Baussan C., Willems P.J.
      Am. J. Hum. Genet. 64:1541-1549(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GSD9A CYS-186; HIS-186; 189-LYS-THR-190 DEL; HIS-295 AND LYS-1125.
      Tissue: Liver.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Hippocampus.
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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].
      Tissue: Colon.
    8. "Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene."
      Burwinkel B., Amat L., Gray R.G., Matsuo N., Muroya K., Narisawa K., Sokol R.J., Vilaseca M.A., Kilimann M.W.
      Hum. Genet. 102:423-429(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 178-206, VARIANTS GSD9A GLU-189; SER-399; 818-GLN--TYR-825 DEL; 953-ASN--LEU-954 DELINS ILE AND TRP-1207.
    9. Cited for: NUCLEOTIDE SEQUENCE OF 750-1126.
      Tissue: Liver.
    10. "The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution."
      Wuellrich A., Hamacher C., Schneider A., Kilimann M.W.
      J. Biol. Chem. 268:23208-23214(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 977-1080.
      Tissue: Liver.
    11. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-729; SER-735 AND SER-1015, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1015, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-729, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-729 AND SER-1015, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    16. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-729 AND SER-735, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    17. "X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase."
      Hendrickx J., Dams E., Coucke P., Lee P., Fernandes J., Willems P.J.
      Hum. Mol. Genet. 5:649-652(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GSD9A CYS-186; THR-251 DEL; THR-ARG-1111 INS AND ILE-1114.
    18. "Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)."
      Burwinkel B., Shin Y.S., Bakker H.D., Deutsch J., Lozano M.J., Maire I., Kilimann M.W.
      Hum. Mol. Genet. 5:653-658(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GSD9A PRO-132; TYR-132; HIS-186 AND GLY-299.
    19. Cited for: VARIANTS GSD9A TYR-ASN-THR-ALA-THR-120 INS; GLY-299; LEU-498; ARG-869; TRP-916; ARG-1070 DEL AND ILE-1113.

    Entry informationi

    Entry nameiKPB2_HUMAN
    AccessioniPrimary (citable) accession number: P46019
    Secondary accession number(s): A8K1T1
    , Q6LAJ5, Q7Z6W0, Q96CR3, Q9UDA1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 150 of the entry and version 1 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 X
      Human chromosome X: 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

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