Human Gene NEK1 (uc003isd.2)
  Description: Homo sapiens NIMA-related kinase 1 (NEK1), transcript variant 1, mRNA.
RefSeq Summary (NM_001199397): The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010].
Transcript (Including UTRs)
   Position: hg19 chr4:170,314,421-170,533,778 Size: 219,358 Total Exon Count: 36 Strand: -
Coding Region
   Position: hg19 chr4:170,315,661-170,523,781 Size: 208,121 Coding Exon Count: 34 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:170,314,421-170,533,778)mRNA (may differ from genome)Protein (1286 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NEK1
CDC HuGE Published Literature: NEK1

-  MalaCards Disease Associations
  MalaCards Gene Search: NEK1
Diseases sorted by gene-association score: short-rib thoracic dysplasia 6 with or without polydactyly* (1687), mohr syndrome* (368), short-rib thoracic dysplasia 3 with or without polydactyly* (294), polydactyly (11), ellis-van creveld syndrome (8), polycystic kidney disease (7), asphyxiating thoracic dystrophy (6), amyotrophic lateral sclerosis 1* (5), cranioectodermal dysplasia 1 (5), cleft lip/palate (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 24.98 RPKM in Nerve - Tibial
Total median expression: 198.63 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 -199.58578-0.345 Picture PostScript Text
3' UTR -270.341240-0.218 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
  Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine kinase

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

ModBase Predicted Comparative 3D Structure on Q96PY6-3
FrontTopSide
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 orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF384368 - JP 2014500723-A/191871: Polycomb-Associated Non-Coding RNAs.
AF155113 - Homo sapiens NY-REN-55 antigen mRNA, partial cds.
AB067488 - Homo sapiens mRNA for KIAA1901 protein.
AL050385 - Homo sapiens mRNA; cDNA DKFZp564L2416 (from clone DKFZp564L2416).
CR936672 - Homo sapiens mRNA; cDNA DKFZp686K12169 (from clone DKFZp686K12169).
CR933642 - Homo sapiens mRNA; cDNA DKFZp686D06121 (from clone DKFZp686D06121).
BC114491 - Homo sapiens NIMA (never in mitosis gene a)-related kinase 1, mRNA (cDNA clone MGC:138800 IMAGE:40082305), complete cds.
AB384649 - Synthetic construct DNA, clone: pF1KA1901, Homo sapiens NEK1 gene for serine/threonine-protein kinase Nek1, complete cds, without stop codon, in Flexi system.
BC015147 - Homo sapiens NIMA (never in mitosis gene a)-related kinase 1, mRNA (cDNA clone IMAGE:4063881), partial cds.
BC068201 - Homo sapiens NIMA (never in mitosis gene a)-related kinase 1, mRNA (cDNA clone IMAGE:4771714).
MA619945 - JP 2018138019-A/191871: Polycomb-Associated Non-Coding RNAs.
AK025658 - Homo sapiens cDNA: FLJ22005 fis, clone HEP06902.
JD409828 - Sequence 390852 from Patent EP1572962.
BC037790 - Homo sapiens NIMA (never in mitosis gene a)-related kinase 1, mRNA (cDNA clone IMAGE:4792489), partial cds.
JD250811 - Sequence 231835 from Patent EP1572962.
JD342487 - Sequence 323511 from Patent EP1572962.
JD428183 - Sequence 409207 from Patent EP1572962.
JD481651 - Sequence 462675 from Patent EP1572962.
JD311281 - Sequence 292305 from Patent EP1572962.
LF372519 - JP 2014500723-A/180022: Polycomb-Associated Non-Coding RNAs.
JD351250 - Sequence 332274 from Patent EP1572962.
JD434325 - Sequence 415349 from Patent EP1572962.
JD292851 - Sequence 273875 from Patent EP1572962.
LF372511 - JP 2014500723-A/180014: Polycomb-Associated Non-Coding RNAs.
LF213558 - JP 2014500723-A/21061: Polycomb-Associated Non-Coding RNAs.
MA608096 - JP 2018138019-A/180022: Polycomb-Associated Non-Coding RNAs.
MA608088 - JP 2018138019-A/180014: Polycomb-Associated Non-Coding RNAs.
MA449135 - JP 2018138019-A/21061: Polycomb-Associated Non-Coding RNAs.
LF372505 - JP 2014500723-A/180008: Polycomb-Associated Non-Coding RNAs.
LF372503 - JP 2014500723-A/180006: Polycomb-Associated Non-Coding RNAs.
LF372500 - JP 2014500723-A/180003: Polycomb-Associated Non-Coding RNAs.
AK027580 - Homo sapiens cDNA FLJ14674 fis, clone NT2RP2003912, highly similar to SERINE/THREONINE-PROTEIN KINASE NEK1 (EC 2.7.1.-).
LF372497 - JP 2014500723-A/180000: Polycomb-Associated Non-Coding RNAs.
Z25431 - H.sapiens protein-serine/threonine kinase gene, complete CDS.
LF372491 - JP 2014500723-A/179994: Polycomb-Associated Non-Coding RNAs.
AK024912 - Homo sapiens cDNA: FLJ21259 fis, clone COL01416.
LF372489 - JP 2014500723-A/179992: Polycomb-Associated Non-Coding RNAs.
MA608082 - JP 2018138019-A/180008: Polycomb-Associated Non-Coding RNAs.
MA608080 - JP 2018138019-A/180006: Polycomb-Associated Non-Coding RNAs.
MA608077 - JP 2018138019-A/180003: Polycomb-Associated Non-Coding RNAs.
MA608074 - JP 2018138019-A/180000: Polycomb-Associated Non-Coding RNAs.
MA608068 - JP 2018138019-A/179994: Polycomb-Associated Non-Coding RNAs.
MA608066 - JP 2018138019-A/179992: Polycomb-Associated Non-Coding RNAs.
JD373561 - Sequence 354585 from Patent EP1572962.
JD165769 - Sequence 146793 from Patent EP1572962.
JD154914 - Sequence 135938 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA1901, NM_001199397, NP_001186326, Q96PY6-3
UCSC ID: uc003isd.2
RefSeq Accession: NM_001199397
Protein: Q96PY6-3, splice isoform of Q96PY6 CCDS: CCDS47162.1, CCDS56350.1, CCDS56351.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NEK1:
als-overview (Amyotrophic Lateral Sclerosis Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001199397.1
exon count: 36CDS single in 3' UTR: no RNA size: 5695
ORF size: 3861CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7812.50frame shift in genome: no % Coverage: 99.72
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.