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Q00532

- CDKL1_HUMAN

UniProt

Q00532 - CDKL1_HUMAN

Protein

Cyclin-dependent kinase-like 1

Gene

CDKL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 5 (05 May 2009)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    ATP + a protein = ADP + a phosphoprotein.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei33 – 331ATPPROSITE-ProRule annotation
    Active sitei126 – 1261Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi10 – 189ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. cyclin-dependent protein serine/threonine kinase activity Source: ProtInc

    GO - Biological processi

    1. heart development Source: Ensembl
    2. protein phosphorylation Source: ProtInc
    3. regulation of cell cycle Source: GOC

    Keywords - Molecular functioni

    Kinase, Serine/threonine-protein kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.11.22. 2681.
    SignaLinkiQ00532.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cyclin-dependent kinase-like 1 (EC:2.7.11.22)
    Alternative name(s):
    Protein kinase p42 KKIALRE
    Serine/threonine-protein kinase KKIALRE
    Gene namesi
    Name:CDKL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:1781. CDKL1.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26317.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 357357Cyclin-dependent kinase-like 1PRO_0000085810Add
    BLAST

    Proteomic databases

    PaxDbiQ00532.
    PRIDEiQ00532.

    Expressioni

    Tissue specificityi

    Highly expressed in kidney, and to a lower extent in ovary.1 Publication

    Gene expression databases

    ArrayExpressiQ00532.
    BgeeiQ00532.
    CleanExiHS_CDKL1.
    GenevestigatoriQ00532.

    Organism-specific databases

    HPAiHPA059605.

    Interactioni

    Protein-protein interaction databases

    BioGridi114341. 4 interactions.
    IntActiQ00532. 4 interactions.
    STRINGi9606.ENSP00000216378.

    Structurei

    Secondary structure

    1
    357
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi4 – 129
    Beta strandi14 – 2310
    Turni24 – 263
    Beta strandi29 – 357
    Helixi42 – 5716
    Beta strandi66 – 727
    Beta strandi75 – 817
    Beta strandi84 – 863
    Helixi87 – 937
    Helixi100 – 11920
    Helixi129 – 1313
    Beta strandi132 – 1343
    Beta strandi140 – 1423
    Helixi165 – 1673
    Helixi170 – 1745
    Helixi182 – 19716
    Helixi207 – 21812
    Helixi223 – 2308
    Helixi233 – 2353
    Helixi249 – 2524
    Helixi258 – 26710
    Turni272 – 2743
    Helixi278 – 2825
    Helixi285 – 2873

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4AGUX-ray2.40A/B/C1-300[»]
    ProteinModelPortaliQ00532.
    SMRiQ00532. Positions 2-351.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 287284Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi45 – 517[NKR]KIAxRE

    Domaini

    The [NKR]KIAxRE motif seems to be a cyclin-binding region.

    Sequence similaritiesi

    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000233024.
    HOVERGENiHBG014652.
    KOiK08824.
    OrthoDBiEOG7992PS.
    PhylomeDBiQ00532.
    TreeFamiTF101031.

    Family and domain databases

    InterProiIPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view]
    PfamiPF00069. Pkinase. 1 hit.
    [Graphical view]
    SMARTiSM00220. S_TKc. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q00532-1) [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

    MEKYEKIGKI GEGSYGVVFK CRNRDTGQIV AIKKFLESED DPVIKKIALR    50
    EIRMLKQLKH PNLVNLLEVF RRKRRLHLVF EYCDHTVLHE LDRYQRGVPE 100
    HLVKSITWQT LQAVNFCHKH NCIHRDVKPE NILITKHSVI KLCDFGFARL 150
    LAGPSDYYTD YVATRWYRSP ELLVGDTQYG PPVDVWAIGC VFAELLSGVP 200
    LWPGKSDVDQ LYLIRKTLGD LIPRHQQVFS TNQYFSGVKI PDPEDMEPLE 250
    LKFPNISYPA LGLLKGCLHM DPTQRLTCEQ LLHHPYFENI REIEDLAKEH 300
    NKPTRKTLRK SRKHHCFTET SKLQYLPQLT GSSILPALDN KKYYCDTKKL 350
    NYRFPNI 357
    Length:357
    Mass (Da):41,671
    Last modified:May 5, 2009 - v5
    Checksum:i3EA30F059885F846
    GO
    Isoform 2 (identifier: Q00532-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MELSTDTGWN...HFKKIYSSMM
         56-56: K → KAPSPYAAEP...RGGSAAQEPT
         98-121: VPEHLVKSITWQTLQAVNFCHKHN → ICNIFVCTGR...ELTSSDSPQR
         247-357: EPLELKFPNI...KKLNYRFPNI → SLCLSVTLTE...EQEKYLSYGA

    Show »
    Length:993
    Mass (Da):108,931
    Checksum:i1D0D58391FEB4D76
    GO

    Sequence cautioni

    The sequence AAI04978.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence AAS00095.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence CAA47002.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti152 – 1521A → T in CAA47002. (PubMed:1639063)Curated
    Sequence conflicti152 – 1521A → T in AAL58838. 1 PublicationCurated
    Sequence conflicti152 – 1521A → T in AAS00095. 1 PublicationCurated
    Sequence conflicti152 – 1521A → T in AAI04978. (PubMed:15489334)Curated
    Sequence conflicti301 – 3011N → D in CAA47002. (PubMed:1639063)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti66 – 661L → P.1 Publication
    Corresponds to variant rs11570814 [ dbSNP | Ensembl ].
    VAR_020576
    Natural varianti274 – 2741Q → E.3 Publications
    Corresponds to variant rs7161563 [ dbSNP | Ensembl ].
    VAR_020577
    Natural varianti329 – 3291L → V.2 Publications
    Corresponds to variant rs9323183 [ dbSNP | Ensembl ].
    VAR_020578
    Natural varianti341 – 3411K → N.1 Publication
    Corresponds to variant rs11570886 [ dbSNP | Ensembl ].
    VAR_020579

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MELSTDTGWNQKSNFPPCDS RVSKEEAQLPFPTPSSYGAD SSNQTYAHKSQSEREQHKEV RAVLNHCSGLDGGEESGLCG TSTRIDAGTGNGTDDKVTDQ HRHRRCLQGTKGNNRGSEVW GLLLQGNVDRSGGAPSAGVL LRRRGYSCALHGLRKFANLA GLLSRQQDSARGVSHHSRLK IHFKKIYSSMM in isoform 2. 1 PublicationVSP_041239
    Alternative sequencei56 – 561K → KAPSPYAAEPSLCGMKMVRR GKKEFLPAVAEKVDAPSGVG GQGQDSVTVGSLGRRSTYGR KQEKQVRQREGIIYCYVAVL LRIYYFDQGCVAREEEQFQE LVFGPFCHIGSYFTGHRTNV RPYILLLSRPSPFKTAAGTY EAGLVILECSYFLAEQEPYC PTQALQQPHPIIGPWALEGG GVESKEDRHPPPKEAPASCE GFLRSAVPKQAYTPFKTSPD KRLSDCVATPPWAPPTPLII SSGVLVAICSMIDPVPEFHS EGLLAKATSGSAGILVWIFL CNDAFIYGKYILRSGVLWVR GLPGFKSEAAALCHKCYSSA DPKREQQQDLLQRVKEQSFH SVNGAQARHKGSPSPHQTQE PSWPHPVDPTPGHRWSCLPV PCRAPALLSPWVVDGTGCCG AGGGSDRGGSAAQEPT in isoform 2. 1 PublicationVSP_041240
    Alternative sequencei98 – 12124VPEHL…CHKHN → ICNIFVCTGRRLGEHTEALS KKKKKGGGGPFLKLRAASCR ITLFKNVGCGLETTGDLSLN SGGGAASRGVAAALRALVCG TELTSSDSPQR in isoform 2. 1 PublicationVSP_041241Add
    BLAST
    Alternative sequencei247 – 357111EPLEL…RFPNI → SLCLSVTLTEGGLLASGAVK RSQMGSSVSQATSWPHPDIV AETAELDDIAMARQTPVMLR FNRQKEQEKYLSYGA in isoform 2. 1 PublicationVSP_041242Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66358, X66359 mRNA. Translation: CAA47002.1. Different initiation.
    AF390028 mRNA. Translation: AAL58838.1.
    AY525548 Genomic DNA. Translation: AAS00095.1. Different initiation.
    AL359397 Genomic DNA. No translation available.
    BC104977 mRNA. Translation: AAI04978.1. Different initiation.
    PIRiS22745.
    S23383.
    RefSeqiNP_004187.2. NM_004196.4.
    XP_005268213.1. XM_005268156.2.
    XP_005268214.1. XM_005268157.1.
    UniGeneiHs.280881.
    Hs.679430.

    Genome annotation databases

    EnsembliENST00000395834; ENSP00000379176; ENSG00000100490.
    GeneIDi8814.
    KEGGihsa:8814.
    UCSCiuc001wxz.3. human. [Q00532-1]
    uc010anu.2. human. [Q00532-2]

    Polymorphism databases

    DMDMi229463050.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66358 , X66359 mRNA. Translation: CAA47002.1 . Different initiation.
    AF390028 mRNA. Translation: AAL58838.1 .
    AY525548 Genomic DNA. Translation: AAS00095.1 . Different initiation.
    AL359397 Genomic DNA. No translation available.
    BC104977 mRNA. Translation: AAI04978.1 . Different initiation.
    PIRi S22745.
    S23383.
    RefSeqi NP_004187.2. NM_004196.4.
    XP_005268213.1. XM_005268156.2.
    XP_005268214.1. XM_005268157.1.
    UniGenei Hs.280881.
    Hs.679430.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4AGU X-ray 2.40 A/B/C 1-300 [» ]
    ProteinModelPortali Q00532.
    SMRi Q00532. Positions 2-351.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114341. 4 interactions.
    IntActi Q00532. 4 interactions.
    STRINGi 9606.ENSP00000216378.

    Chemistry

    BindingDBi Q00532.
    ChEMBLi CHEMBL5789.
    GuidetoPHARMACOLOGYi 1982.

    Polymorphism databases

    DMDMi 229463050.

    Proteomic databases

    PaxDbi Q00532.
    PRIDEi Q00532.

    Protocols and materials databases

    DNASUi 8814.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000395834 ; ENSP00000379176 ; ENSG00000100490 .
    GeneIDi 8814.
    KEGGi hsa:8814.
    UCSCi uc001wxz.3. human. [Q00532-1 ]
    uc010anu.2. human. [Q00532-2 ]

    Organism-specific databases

    CTDi 8814.
    GeneCardsi GC14M050796.
    HGNCi HGNC:1781. CDKL1.
    HPAi HPA059605.
    MIMi 603441. gene.
    neXtProti NX_Q00532.
    PharmGKBi PA26317.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000233024.
    HOVERGENi HBG014652.
    KOi K08824.
    OrthoDBi EOG7992PS.
    PhylomeDBi Q00532.
    TreeFami TF101031.

    Enzyme and pathway databases

    BRENDAi 2.7.11.22. 2681.
    SignaLinki Q00532.

    Miscellaneous databases

    GenomeRNAii 8814.
    NextBioi 33062.
    PROi Q00532.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q00532.
    Bgeei Q00532.
    CleanExi HS_CDKL1.
    Genevestigatori Q00532.

    Family and domain databases

    InterProi IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view ]
    Pfami PF00069. Pkinase. 1 hit.
    [Graphical view ]
    SMARTi SM00220. S_TKc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A family of human cdc2-related protein kinases."
      Meyerson M., Enders G.H., Wu C.-L., Su L.-K., Gorka C., Nelson C., Harlow E., Tsai L.-H.
      EMBO J. 11:2909-2917(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLU-274.
    2. "The cloning of 2nd splicing version of human serine/threonine-protein kinase KKIALRE (cyclin-dependent kinase like-1)."
      Hu W.-X., Tang L.-J., Shi Y.-W.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. NIEHS SNPs program
      Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS PRO-66; GLU-274; VAL-329 AND ASN-341.
    4. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 1).
      Tissue: Cerebellum.
    6. "Molecular cloning of the epidermal growth factor-stimulated protein kinase p56 KKIAMRE."
      Taglienti C.A., Wysk M., Davis R.J.
      Oncogene 13:2563-2574(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    7. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-274 AND VAL-329.

    Entry informationi

    Entry nameiCDKL1_HUMAN
    AccessioniPrimary (citable) accession number: Q00532
    Secondary accession number(s): Q2M3A4, Q6QUA0, Q8WXQ5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 141 of the entry and version 5 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3