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Q00532

- CDKL1_HUMAN

UniProt

Q00532 - CDKL1_HUMAN

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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

Functioni

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei33 – 331ATP By similarity
Active sitei126 – 1261Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi10 – 189ATP By similarity

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
Complete GO annotation...

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. Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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 1
PRO_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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 287284Protein kinase
Add
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

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.

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.
VSP_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.
VSP_041240
Alternative sequencei98 – 12124VPEHL…CHKHN → ICNIFVCTGRRLGEHTEALS KKKKKGGGGPFLKLRAASCR ITLFKNVGCGLETTGDLSLN SGGGAASRGVAAALRALVCG TELTSSDSPQR in isoform 2.
VSP_041241Add
BLAST
Alternative sequencei247 – 357111EPLEL…RFPNI → SLCLSVTLTEGGLLASGAVK RSQMGSSVSQATSWPHPDIV AETAELDDIAMARQTPVMLR FNRQKEQEKYLSYGA in isoform 2.
VSP_041242Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti152 – 1521A → T in CAA47002. 1 Publication
Sequence conflicti152 – 1521A → T in AAL58838. 1 Publication
Sequence conflicti152 – 1521A → T in AAS00095. 1 Publication
Sequence conflicti152 – 1521A → T in AAI04978. 1 Publication
Sequence conflicti301 – 3011N → D in CAA47002. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 140 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

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