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Q00532 (CDKL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cyclin-dependent kinase-like 1

EC=2.7.11.22
Alternative name(s):
Protein kinase p42 KKIALRE
Serine/threonine-protein kinase KKIALRE
Gene names
Name:CDKL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length357 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

ATP + a protein = ADP + a phosphoprotein.

Subcellular location

Cytoplasm. Nucleus Ref.6.

Tissue specificity

Highly expressed in kidney, and to a lower extent in ovary. Ref.6

Domain

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

Sequence similarities

Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.

Contains 1 protein kinase domain.

Sequence caution

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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q00532-1)

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: Q00532-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 357357Cyclin-dependent kinase-like 1
PRO_0000085810

Regions

Domain4 – 287284Protein kinase
Nucleotide binding10 – 189ATP By similarity
Motif45 – 517[NKR]KIAxRE

Sites

Active site1261Proton acceptor By similarity
Binding site331ATP By similarity

Natural variations

Alternative sequence11M → MELSTDTGWNQKSNFPPCDS RVSKEEAQLPFPTPSSYGAD SSNQTYAHKSQSEREQHKEV RAVLNHCSGLDGGEESGLCG TSTRIDAGTGNGTDDKVTDQ HRHRRCLQGTKGNNRGSEVW GLLLQGNVDRSGGAPSAGVL LRRRGYSCALHGLRKFANLA GLLSRQQDSARGVSHHSRLK IHFKKIYSSMM in isoform 2.
VSP_041239
Alternative sequence561K → 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 sequence98 – 12124VPEHL…CHKHN → ICNIFVCTGRRLGEHTEALS KKKKKGGGGPFLKLRAASCR ITLFKNVGCGLETTGDLSLN SGGGAASRGVAAALRALVCG TELTSSDSPQR in isoform 2.
VSP_041241
Alternative sequence247 – 357111EPLEL…RFPNI → SLCLSVTLTEGGLLASGAVK RSQMGSSVSQATSWPHPDIV AETAELDDIAMARQTPVMLR FNRQKEQEKYLSYGA in isoform 2.
VSP_041242
Natural variant661L → P. Ref.3
Corresponds to variant rs11570814 [ dbSNP | Ensembl ].
VAR_020576
Natural variant2741Q → E. Ref.1 Ref.3 Ref.7
Corresponds to variant rs7161563 [ dbSNP | Ensembl ].
VAR_020577
Natural variant3291L → V. Ref.3 Ref.7
Corresponds to variant rs9323183 [ dbSNP | Ensembl ].
VAR_020578
Natural variant3411K → N. Ref.3
Corresponds to variant rs11570886 [ dbSNP | Ensembl ].
VAR_020579

Experimental info

Sequence conflict1521A → T in CAA47002. Ref.1
Sequence conflict1521A → T in AAL58838. Ref.2
Sequence conflict1521A → T in AAS00095. Ref.3
Sequence conflict1521A → T in AAI04978. Ref.5
Sequence conflict3011N → D in CAA47002. Ref.1

Secondary structure

.............................................. 357
Helix Strand Turn

Details...

Sequences

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

Last modified May 5, 2009. Version 5.
Checksum: 3EA30F059885F846

FASTA35741,671
        10         20         30         40         50         60 
MEKYEKIGKI GEGSYGVVFK CRNRDTGQIV AIKKFLESED DPVIKKIALR EIRMLKQLKH 

        70         80         90        100        110        120 
PNLVNLLEVF RRKRRLHLVF EYCDHTVLHE LDRYQRGVPE HLVKSITWQT LQAVNFCHKH 

       130        140        150        160        170        180 
NCIHRDVKPE NILITKHSVI KLCDFGFARL LAGPSDYYTD YVATRWYRSP ELLVGDTQYG 

       190        200        210        220        230        240 
PPVDVWAIGC VFAELLSGVP LWPGKSDVDQ LYLIRKTLGD LIPRHQQVFS TNQYFSGVKI 

       250        260        270        280        290        300 
PDPEDMEPLE LKFPNISYPA LGLLKGCLHM DPTQRLTCEQ LLHHPYFENI REIEDLAKEH 

       310        320        330        340        350 
NKPTRKTLRK SRKHHCFTET SKLQYLPQLT GSSILPALDN KKYYCDTKKL NYRFPNI 

« Hide

Isoform 2 [UniParc].

Checksum: 1D0D58391FEB4D76
Show »

FASTA993108,931

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRS22745.
S23383.
RefSeqNP_004187.2. NM_004196.4.
XP_005268213.1. XM_005268156.2.
XP_005268214.1. XM_005268157.1.
UniGeneHs.280881.
Hs.679430.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4AGUX-ray2.40A/B/C1-300[»]
ProteinModelPortalQ00532.
SMRQ00532. Positions 2-351.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114341. 4 interactions.
IntActQ00532. 4 interactions.
STRING9606.ENSP00000216378.

Chemistry

BindingDBQ00532.
ChEMBLCHEMBL5789.
GuidetoPHARMACOLOGY1982.

Polymorphism databases

DMDM229463050.

Proteomic databases

PaxDbQ00532.
PRIDEQ00532.

Protocols and materials databases

DNASU8814.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000395834; ENSP00000379176; ENSG00000100490.
GeneID8814.
KEGGhsa:8814.
UCSCuc001wxz.3. human. [Q00532-1]
uc010anu.2. human. [Q00532-2]

Organism-specific databases

CTD8814.
GeneCardsGC14M050796.
HGNCHGNC:1781. CDKL1.
HPAHPA059605.
MIM603441. gene.
neXtProtNX_Q00532.
PharmGKBPA26317.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0515.
HOGENOMHOG000233024.
HOVERGENHBG014652.
KOK08824.
OrthoDBEOG7992PS.
PhylomeDBQ00532.
TreeFamTF101031.

Enzyme and pathway databases

BRENDA2.7.11.22. 2681.
SignaLinkQ00532.

Gene expression databases

ArrayExpressQ00532.
BgeeQ00532.
CleanExHS_CDKL1.
GenevestigatorQ00532.

Family and domain databases

InterProIPR011009. 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]
PfamPF00069. Pkinase. 1 hit.
[Graphical view]
SMARTSM00220. S_TKc. 1 hit.
[Graphical view]
SUPFAMSSF56112. SSF56112. 1 hit.
PROSITEPS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi8814.
NextBio33062.
PROQ00532.
SOURCESearch...

Entry information

Entry nameCDKL1_HUMAN
AccessionPrimary (citable) accession number: Q00532
Secondary accession number(s): Q2M3A4, Q6QUA0, Q8WXQ5
Entry history
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 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

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 14

Human chromosome 14: entries, gene names and cross-references to MIM