Human Gene CILK1 (ENST00000356971.3_4) from GENCODE V47lift37
  Description: ciliogenesis associated kinase 1, transcript variant 2 (from RefSeq NM_016513.5)
Gencode Transcript: ENST00000356971.3_4
Gencode Gene: ENSG00000112144.16_9
Transcript (Including UTRs)
   Position: hg19 chr6:52,866,109-52,926,600 Size: 60,492 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr6:52,869,947-52,906,034 Size: 36,088 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:52,866,109-52,926,600)mRNA (may differ from genome)Protein (632 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ICK_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein kinase ICK; EC=2.7.11.22; AltName: Full=Intestinal cell kinase; Short=hICK; AltName: Full=Laryngeal cancer kinase 2; Short=LCK2; AltName: Full=MAK-related kinase; Short=MRK;
FUNCTION: May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity).
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
COFACTOR: Magnesium.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol (By similarity). Note=Nuclear localization has been observed with a GFP-tagged construct in transfected HeLa cells (PubMed:12103360). Cytosolic localization was shown in rat embryonic cardiomyocytes by immunostaining (PubMed:8570168).
TISSUE SPECIFICITY: Expressed in heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines.
PTM: Autophosphorylated on serine and threonine residues. May play a role in enzyme activation.
DISEASE: Defects in ICK are the cause of endocrine- cerebroosteodysplasia (ECO) [MIM:612651]. ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.
SIMILARITY: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
SIMILARITY: Contains 1 protein kinase domain.
SEQUENCE CAUTION: Sequence=BAA76780.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.37 RPKM in Adrenal Gland
Total median expression: 230.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -188.60490-0.385 Picture PostScript Text
3' UTR -952.903838-0.248 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on Q9UPZ9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0010468 regulation of gene expression
GO:0016310 phosphorylation
GO:0030030 cell projection organization
GO:0035556 intracellular signal transduction
GO:0035720 intraciliary anterograde transport
GO:0035721 intraciliary retrograde transport
GO:0042073 intraciliary transport
GO:0060271 cilium assembly

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0036064 ciliary basal body
GO:0042995 cell projection
GO:0097542 ciliary tip
GO:0097546 ciliary base


-  Descriptions from all associated GenBank mRNAs
  BC152464 - Homo sapiens intestinal cell (MAK-like) kinase, mRNA (cDNA clone MGC:176721 IMAGE:8862600), complete cds.
AB023153 - Homo sapiens KIAA0936 mRNA for KIAA0936 protein.
BX647493 - Homo sapiens mRNA; cDNA DKFZp686N12128 (from clone DKFZp686N12128).
AJ420557 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1893262.
JD046079 - Sequence 27103 from Patent EP1572962.
JD082594 - Sequence 63618 from Patent EP1572962.
JD414176 - Sequence 395200 from Patent EP1572962.
JD290655 - Sequence 271679 from Patent EP1572962.
JD264791 - Sequence 245815 from Patent EP1572962.
JD288227 - Sequence 269251 from Patent EP1572962.
JD380722 - Sequence 361746 from Patent EP1572962.
JD190792 - Sequence 171816 from Patent EP1572962.
JD305235 - Sequence 286259 from Patent EP1572962.
JD499147 - Sequence 480171 from Patent EP1572962.
JD265710 - Sequence 246734 from Patent EP1572962.
JD120265 - Sequence 101289 from Patent EP1572962.
JD354791 - Sequence 335815 from Patent EP1572962.
JD163205 - Sequence 144229 from Patent EP1572962.
JD188294 - Sequence 169318 from Patent EP1572962.
JD154755 - Sequence 135779 from Patent EP1572962.
JD534521 - Sequence 515545 from Patent EP1572962.
JD532106 - Sequence 513130 from Patent EP1572962.
JD088192 - Sequence 69216 from Patent EP1572962.
JD377498 - Sequence 358522 from Patent EP1572962.
BC136420 - Homo sapiens intestinal cell (MAK-like) kinase, mRNA (cDNA clone MGC:168031 IMAGE:9020408), complete cds.
BC136421 - Homo sapiens intestinal cell (MAK-like) kinase, mRNA (cDNA clone MGC:168032 IMAGE:9020409), complete cds.
JD257601 - Sequence 238625 from Patent EP1572962.
JD070401 - Sequence 51425 from Patent EP1572962.
JD134309 - Sequence 115333 from Patent EP1572962.
JD070400 - Sequence 51424 from Patent EP1572962.
JD422102 - Sequence 403126 from Patent EP1572962.
JD429474 - Sequence 410498 from Patent EP1572962.
JD528448 - Sequence 509472 from Patent EP1572962.
JD086796 - Sequence 67820 from Patent EP1572962.
JD541296 - Sequence 522320 from Patent EP1572962.
JD375360 - Sequence 356384 from Patent EP1572962.
JD109792 - Sequence 90816 from Patent EP1572962.
JD130060 - Sequence 111084 from Patent EP1572962.
JD098710 - Sequence 79734 from Patent EP1572962.
JD205458 - Sequence 186482 from Patent EP1572962.
JD503894 - Sequence 484918 from Patent EP1572962.
JD177243 - Sequence 158267 from Patent EP1572962.
JD337862 - Sequence 318886 from Patent EP1572962.
JD566910 - Sequence 547934 from Patent EP1572962.
AK074892 - Homo sapiens cDNA FLJ90411 fis, clone NT2RP3000022, highly similar to Serine/threonine-protein kinase ICK (EC 2.7.11.22).
JD242296 - Sequence 223320 from Patent EP1572962.
JD285120 - Sequence 266144 from Patent EP1572962.
AF152469 - Homo sapiens MAK-related kinase (LCK2) mRNA, complete cds.
JD552781 - Sequence 533805 from Patent EP1572962.
JD206600 - Sequence 187624 from Patent EP1572962.
JD555397 - Sequence 536421 from Patent EP1572962.
JD267771 - Sequence 248795 from Patent EP1572962.
AF225919 - Homo sapiens intestinal cell kinase (ICK) mRNA, complete cds.
AB384050 - Synthetic construct DNA, clone: pF1KSDA0936, Homo sapiens ICK gene for serine/threonine-protein kinase ICK, complete cds, without stop codon, in Flexi system.
BC035807 - Homo sapiens intestinal cell (MAK-like) kinase, mRNA (cDNA clone IMAGE:5745248), complete cds.
KJ902242 - Synthetic construct Homo sapiens clone ccsbBroadEn_11636 ICK gene, encodes complete protein.
KR710905 - Synthetic construct Homo sapiens clone CCSBHm_00018110 ICK (ICK) mRNA, encodes complete protein.
CU690204 - Synthetic construct Homo sapiens gateway clone IMAGE:100016673 5' read ICK mRNA.
LF208557 - JP 2014500723-A/16060: Polycomb-Associated Non-Coding RNAs.
LF377813 - JP 2014500723-A/185316: Polycomb-Associated Non-Coding RNAs.
JD318894 - Sequence 299918 from Patent EP1572962.
JD300818 - Sequence 281842 from Patent EP1572962.
JD202449 - Sequence 183473 from Patent EP1572962.
JD476358 - Sequence 457382 from Patent EP1572962.
MA444134 - JP 2018138019-A/16060: Polycomb-Associated Non-Coding RNAs.
MA613390 - JP 2018138019-A/185316: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A7MD41, CILK1_HUMAN, ENST00000356971.1, ENST00000356971.2, ICK, KIAA0936, NM_016513, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9, uc317zux.1
UCSC ID: ENST00000356971.3_4
RefSeq Accession: NM_016513.5
Protein: Q9UPZ9 (aka ICK_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.