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NEK1 Gene

protein-coding   GIFtS: 61
GCID: GC04M170314

NIMA-Related Kinase 1

(Previous name: NIMA (never in mitosis gene a)-related kinase 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NIMA-Related Kinase 11 2     SRTD62 5
NIMA (Never In Mitosis Gene A)-Related Kinase 11 2     NY-REN-552
Never In Mitosis A-Related Kinase 12 3     SRPS22
NimA-Related Protein Kinase 12 3     Protein-Serine/Threonine Kinase2
Renal Carcinoma Antigen NY-REN-552 3     Serine/Threonine-Protein Kinase Nek12
EC 2.7.11.13 8     KIAA19013
SRPS2A2 5     EC 2.7.118

External Ids:    HGNC: 77441   Entrez Gene: 47502   Ensembl: ENSG000001376017   OMIM: 6045885   UniProtKB: Q96PY63   

Export aliases for NEK1 gene to outside databases

Previous GC identifers: GC04M171085 GC04M170736 GC04M170898 GC04M171010 GC04M170689 GC04M170551 GC04M166069


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NEK1 Gene:
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)

GeneCards Summary for NEK1 Gene:
NEK1 (NIMA-related kinase 1) is a protein-coding gene. Diseases associated with NEK1 include short rib-polydactyly syndrome, type iia, and short rib-polydactyly syndrome type 2. GO annotations related to this gene include protein serine/threonine kinase activity and protein tyrosine kinase activity. An important paralog of this gene is NEK5.

UniProtKB/Swiss-Prot: NEK1_HUMAN, Q96PY6
Function: Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated
in the control of meiosis (By similarity). Involved in cilium assembly

Gene Wiki entry for NEK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEK1 gene promoter:
         AhR   Sox5   FOXC1   AML1a   FOXD3   XBP-1   POU3F2   ATF6   C/EBPalpha   Gfi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEK1 promoter sequence
   Search Chromatin IP Primers for NEK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NEK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q33   Ensembl cytogenetic band:  4q33   HGNC cytogenetic band: 4q32.3

NEK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEK1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M170314:  view genomic region     (about GC identifiers)

Start:
170,314,421 bp from pter      End:
170,533,780 bp from pter
Size:
219,360 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NEK1_HUMAN, Q96PY6 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase Nek1  
Size: 1258 amino acids; 142828 Da
Cofactor: Magnesium
Subunit: Binds to SPERT (By similarity)
Sequence caution: Sequence=AAH15147.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAB15207.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB55209.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB67794.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for NEK1:
4APC (3D)        4B9D (3D)    
Secondary accessions: G5E9Z3 Q05DG5 Q14CB7 Q5H9T1 Q6PIB8 Q96SS2 Q9H6P7 Q9Y594
Alternative splicing: 6 isoforms:  Q96PY6-1   Q96PY6-2   Q96PY6-3   Q96PY6-4   Q96PY6-5   Q96PY6-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NEK1: NX_Q96PY6

Explore proteomics data for NEK1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for NEK1 (Q96PY6)
     EQLERKR  GTPYYLSPE 


    See NEK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001186326.1  NP_001186327.1  NP_001186328.1  NP_001186329.1  NP_036356.1  

    ENSEMBL proteins: 
     ENSP00000408020   ENSP00000423332   ENSP00000427653   ENSP00000424757   ENSP00000424938  
     ENSP00000421525   ENSP00000424152  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: NIMA-related kinase 1
    NIMA (never in mitosis gene a)- related kinase (NEK) family

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q96PY6

    ProtoNet protein and cluster: Q96PY6

    UniProtKB/Swiss-Prot: NEK1_HUMAN, Q96PY6
    Similarity: Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily
    Similarity: Contains 1 protein kinase domain


    NEK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEK1_HUMAN, Q96PY6
    Function: Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated
    in the control of meiosis (By similarity). Involved in cilium assembly
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA15604234
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity IEA--
    GO:0005515protein binding IPI14690447
    GO:0005524ATP binding IEA--
         
    NEK1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for NEK1:
     Decreased substrate adherent c  Gemcitabine induced cell-death  Increased cell death in HCC-19  Synthetic lethal with Ras 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nek1):
     craniofacial  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     integument  mortality/aging  nervous system  renal/urinary system  reproductive system 
     skeleton 

    NEK1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NEK1
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    miRNA
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    miRTarBase miRNAs that target NEK1:
    hsa-mir-192-5p (MIRT026517), hsa-mir-21-5p (MIRT030894), hsa-mir-484 (MIRT042284)

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    Selected qRT-PCR Assays for microRNAs that regulate NEK1 (see all 11):
    hsa-miR-520f hsa-miR-607 hsa-miR-551b* hsa-miR-4282 hsa-miR-512-3p hsa-miR-1233 hsa-miR-9 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidNEK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NEK1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NEK1_HUMAN, Q96PY6: Nucleus (Probable). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (By
    similarity). Note=Associated with the pericentriolar material. Localizes to centrosome during interphase and
    mitosis (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000242pericentriolar material IDA--
    GO:0005634nucleus IDA15604234
    GO:0005730nucleolus ----
    GO:0005737cytoplasm IDA15604234
    GO:0005813centrosome IDA--

    NEK1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NEK1
    Interactions:

        Search GeneGlobe Interaction Network for NEK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for NEK1 (Q96PY61, 3 ENSP000004080204) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FEZ1Q996891, 3, ENSP000002789194EBI-373615,EBI-396435 I2D: score=4 STRING: ENSP00000278919
    FEZ2Q9UHY81, 3, ENSP000003685474EBI-373615,EBI-396453 I2D: score=4 STRING: ENSP00000368547
    KIF3AQ9Y4963, ENSP000003680204I2D: score=4 STRING: ENSP00000368020
    TSC2P498153, ENSP000002194764I2D: score=4 STRING: ENSP00000219476
    MRE11AP499593, ENSP000003258634I2D: score=3 STRING: ENSP00000325863
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0006974cellular response to DNA damage stimulus IEA--
    GO:0007067mitosis IEA--
    GO:0010212response to ionizing radiation IEA--
    GO:0042384cilium assembly IMP--

    NEK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NEK1

    3 HMDB Compounds for NEK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    2 Novoseek inferred chemical compound relationships for NEK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 66.3 9 8647846 (2), 8455596 (2), 9150601 (1), 9341881 (1) (see all 7)
    serine 51.6 7 8647846 (2), 8455596 (2), 11571656 (1), 8119958 (1) (see all 5)



    NEK1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NEK1 gene (5 alternative transcripts): 
    NM_001199397.1  NM_001199398.1  NM_001199399.1  NM_001199400.1  NM_012224.2  

    Unigene Cluster for NEK1:

    NIMA-related kinase 1
    Hs.481181  [show with all ESTs]
    Unigene Representative Sequence: NM_001199397
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439128(uc003isd.2 uc003isb.2 uc003isc.2) ENST00000511633(uc003ise.2 uc003isf.2)
    ENST00000510533 ENST00000507142 ENST00000512193 ENST00000509912(uc003isg.1)
    ENST00000505119 ENST00000510108
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NEK1 (see all 11):
    hsa-miR-520f hsa-miR-607 hsa-miR-551b* hsa-miR-4282 hsa-miR-512-3p hsa-miR-1233 hsa-miR-9 hsa-miR-633
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      QuantiFast Probe-based Assays in human, mouse, rat NEK1

    Additional mRNA sequence: 

    AB067488.1 AF155113.1 AK024912.1 AK025658.1 AK027580.1 AL050385.1 BC015147.1 BC037790.2 
    BC068201.1 BC114491.1 CR933642.1 CR936672.1 Z25431.1 

    11 DOTS entries:

    DT.95267587  DT.91764501  DT.99990573  DT.412666  DT.100779770  DT.100841299  DT.97785337  DT.97770878 
    DT.95267585  DT.95360858  DT.99966977 

    Selected AceView cDNA sequences (see all 124):

    AK024912 AB067488 AW300883 AA732495 BQ889596 AA253092 AA421774 AA765482 
    AI927097 AA496964 AW628079 AW021316 AI588955 AI469371 AA463691 NM_012224 
    AK025658 AA907081 AI984346 BF431207 AI816354 AI351373 AI627397 AV700291 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NEK1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^
    SP1:                                                                                                  -                                               -         
    SP2:                                                                                                                                            -     -         
    SP3:                                                                                                  -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35
    SP1:                                                                                                
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for NEK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NEK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAGCCAGA
    NEK1 Expression
    About this image


    NEK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    NEK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.481181

    UniProtKB/Swiss-Prot: NEK1_HUMAN, Q96PY6
    Tissue specificity: High fetal expression in the brain and kidney

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NEK1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nek11 , 5 NIMA (never in mitosis gene a)-related expressed kinase more1, 5 85.81(n)1
    82.88(a)1
      8 (30.91 cM)5
    180041  NM_175089.31  NP_780298.21 
     609931955 
    chicken
    (Gallus gallus)
    Aves NEK11 NIMA (never in mitosis gene a)-related kinase 1 73.44(n)
    69.78(a)
      422433  XM_420401.4  XP_420401.3 
    lizard
    (Anolis carolinensis)
    Reptilia NEK16
    NIMA-related kinase 1
    65(a)
    1 ↔ 1
    GL343216.1(671284-723719)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nek11 NIMA-related kinase 1 65.96(n)
    62.11(a)
      100036653  NM_001097211.1  NP_001090680.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb55c032 Danio rerio mRNA similar to RNA binding motif protein more 72.61(n)    BC047836.1 


    ENSEMBL Gene Tree for NEK1 (if available)
    TreeFam Gene Tree for NEK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEK1 gene
    NEK52  NEK82  NEK22  NEK42  NEK102  NEK62  NEK112  NEK32  
    NEK92  NEK72  
    13 SIMAP similar genes for NEK1 using alignment to 3 protein entries:     NEK1_HUMAN (see all proteins):
    DKFZp564L2416    NEK3    NEK6    NEK7    KIN27    CDK4
    PRKACA    PRKACG    NEK2    AURKC    TSSK6    PRKAA1
    TSSK3

    NEK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NEK1 (see all 4159)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0696184
    Short rib-polydactyly syndrome 2A (SRPS2A)4--see VAR_0696182 L S mis40--------
    VAR_0409034
    A lung adenocarcinoma sample4--see VAR_0409032 A P mis40--------
    VAR_0696174
    Short rib-polydactyly syndrome 2A (SRPS2A)4--see VAR_0696172 G R mis40--------
    VAR_0409014
    A lung large cell carcinoma sample4--see VAR_0409012 E K mis40--------
    rs1379562311,2
    --166068751(+) CACTTA/GTAATA 5 -- ds50010--------
    rs1434099391,2
    --166068775(+) AATAGA/CCCTTT 5 -- ds50010--------
    rs65534351,2
    C,F,H--166069022(+) TTAAAG/ATATTG 5 -- ds500124Minor allele frequency- A:0.12EA NS NA WA CSA 2093
    rs76728741,2
    C,F,A,H--166069098(+) CTTGAT/GGTAAA 5 -- ds500126Minor allele frequency- G:0.37NA NS EA WA CSA 2350
    rs1473356751,2
    --166069164(+) GTAGAA/TAATAA 5 -- ut310--------
    rs1893054991,2
    --166069286(+) AGATAA/CGATTT 5 -- ut310--------

    HapMap Linkage Disequilibrium report for NEK1 (170314421 - 170533780 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NEK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2448929CNV Deletion19546169
    esv2661231CNV Deletion23128226
    esv2674030CNV Deletion23128226
    dgv5824n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): NEK1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEK1
    DNA2.0 Custom Variant and Variant Library Synthesis for NEK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604588   
    OMIM disorders: 263520  
    UniProtKB/Swiss-Prot: NEK1_HUMAN, Q96PY6
  • Short rib-polydactyly syndrome 2A (SRPS2A) [MIM:263520]: A lethal skeletal dysplasia characterized by
    markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic
    lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect
    and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and
    elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of
    all four extremities, with extreme reduction of tibial bone length. Note=The disease is caused by mutations
    affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the
    presence of mutations in NEK1 indicating digenic inheritance (short rib-polydactyly syndrome 2A/B)
    (PubMed:21211617)

  • 19 diseases for NEK1:    
    About MalaCards
    short rib-polydactyly syndrome, type iia    short rib-polydactyly syndrome type 2    short rib-polydactyly syndrome    polycystic kidney disease
    sensenbrenner syndrome    ellis-van creveld syndrome    polydactyly    asphyxiating thoracic dystrophy
    kidney disease    cystic kidney    skeletal dysplasias    frontotemporal dementia
    dwarfism    dementia    cleft lip    renal cell carcinoma
    neuronitis    multiple myeloma    myeloma

    4 diseases from the University of Copenhagen DISEASES database for NEK1:
    Polycystic kidney disease     Sensenbrenner syndrome     Polydactyly     Asphyxiating thoracic dystrophy

    NEK1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NEK1
    Human Genome Epidemiology (HuGE) Navigator: NEK1 (1 document)

    Export disorders for NEK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NEK1 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with NEK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. (PubMed id 22499340)1, 2 El Hokayem J.... Cormier-Daire V. (J. Med. Genet. 2012)
    2. NEK1 mutations cause short-rib polydactyly syndrome type majewski. (PubMed id 21211617)1, 2 Thiel C.... Rauch A. (Am. J. Hum. Genet. 2011)
    3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    6. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    7. Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans. (PubMed id 8274451)1, 3 Schultz S.J. and Nigg E.A. (Cell Growth Differ. 1993)
    8. A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells. (PubMed id 1382974)1, 3 Letwin K....Pawson T. (EMBO J. 1992)
    9. NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response. (PubMed id 15604234)1, 9 Polci R....Chen Y. (Cancer Res. 2004)
    10. Nek1 kinase associates with ATR-ATRIP and primes ATR for efficient DNA damage signaling. (PubMed id 23345434)1 Liu S....Zou L. (Proc. Natl. Acad. Sci. U.S.A. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4750 HGNC: 7744 AceView: NEK1 Ensembl:ENSG00000137601 euGenes: HUgn4750
    ECgene: NEK1 H-InvDB: NEK1

    (According to HUGE)
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    HUGE: KIAA1901

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NEK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NEK1 gene:
    Search GeneIP for patents involving NEK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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