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. [p... See more...

Aliases for NEK1 Gene

Aliases for NEK1 Gene

  • NIMA Related Kinase 1 2 3 5
  • NIMA (Never In Mitosis Gene A)-Related Kinase 1 2 3
  • Serine/Threonine-Protein Kinase Nek1 3 4
  • Never In Mitosis A-Related Kinase 1 3 4
  • Renal Carcinoma Antigen NY-REN-55 3 4
  • NimA-Related Protein Kinase 1 3 4
  • EC 2.7.11.1 4 51
  • NY-REN-55 2 3
  • KIAA1901 2 4
  • Protein-Serine/Threonine Kinase 3
  • EC 2.7.11 51
  • SRPS2A 3
  • ALS24 3
  • SRPS2 3
  • SRTD6 3
  • NEK1 5

External Ids for NEK1 Gene

Previous GeneCards Identifiers for NEK1 Gene

  • GC04M171085
  • GC04M170736
  • GC04M170898
  • GC04M171010
  • GC04M170689
  • GC04M170551
  • GC04M170314
  • GC04M166069

Summaries for NEK1 Gene

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 Thoracic Dysplasia 6 With Or Without Polydactyly and Amyotrophic Lateral Sclerosis 24. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAP3K4.

UniProtKB/Swiss-Prot Summary for NEK1 Gene

  • Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617).

Gene Wiki entry for NEK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEK1 Gene

Genomics for NEK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NEK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J169610 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 618 +0.6 644 3.7 CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 REST TFE3 ZNF512 RFX1 NEK1 CLCN3 lnc-HPF1-3 MG828730-051 SH3RF1
GH04J169657 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas 28.1 -48.2 -48196 9.2 CREB1 GATAD2A ATF7 PRDM10 ZNF629 RFX1 LEF1 IKZF1 ZNF692 POLR2A lnc-NEK1-1 NEK1 CLCN3 piR-45471-470 MG828730-051 HPF1
GH04J169618 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.9 -8.4 -8442 4.3 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 REST TFE3 CLCN3 lnc-NEK1-3 NEK1 lnc-NEK1-1 MG828730-051 HPF1
GH04J169626 Enhancer 1.3 FANTOM5 Ensembl dbSUPER 16.5 -15.4 -15372 5.2 LEF1 IKZF1 JUND DDX20 PKNOX1 REST ZNF740 ZNF24 DPF2 HDAC1 NEK1 CLCN3 lnc-NEK1-3 lnc-NEK1-1 MG828730-051 HPF1
GH04J169604 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 +7.6 7628 3.2 ZNF512 BACH1 JUND DPF2 HDAC1 FOXJ2 EP300 CBX3 RUNX3 TAF9B NEK1 MFAP3L CLCN3 lnc-HPF1-3 MG828730-051 SH3RF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEK1

Top Transcription factor binding sites by QIAGEN in the NEK1 gene promoter:
  • AhR
  • AML1a
  • ATF6
  • C/EBPalpha
  • FOXC1
  • FOXD3
  • Gfi-1
  • POU3F2
  • Sox5
  • XBP-1

Genomic Locations for NEK1 Gene

Genomic Locations for NEK1 Gene
chr4:169,392,809-169,612,629
(GRCh38/hg38)
Size:
219,821 bases
Orientation:
Minus strand
chr4:170,314,421-170,533,780
(GRCh37/hg19)
Size:
219,360 bases
Orientation:
Minus strand

Genomic View for NEK1 Gene

Genes around NEK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEK1 Gene

Proteins for NEK1 Gene

  • Protein details for NEK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PY6-NEK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase Nek1
    Protein Accession:
    Q96PY6
    Secondary Accessions:
    • G5E9Z3
    • Q05DG5
    • Q14CB7
    • Q5H9T1
    • Q6PIB8
    • Q96SS2
    • Q9H6P7
    • Q9Y594

    Protein attributes for NEK1 Gene

    Size:
    1258 amino acids
    Molecular mass:
    142828 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Binds to CBY2 (By similarity). Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768). Interacts with CFAP410 (PubMed:26167768). Interacts (via Ser-1052 phosphorylated form) with 14-3-3 proteins (By similarity).
    SequenceCaution:
    • Sequence=AAH15147.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB15207.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55209.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB67794.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NEK1 Gene

    Alternative splice isoforms for NEK1 Gene

neXtProt entry for NEK1 Gene

Selected DME Specific Peptides for NEK1 Gene

Q96PY6:
  • EQLERKR
  • GTPYYLSPE

Post-translational modifications for NEK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for NEK1
  • Boster Bio Antibodies for NEK1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NEK1

Domains & Families for NEK1 Gene

Gene Families for NEK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NEK1 Gene

Suggested Antigen Peptide Sequences for NEK1 Gene

GenScript: Design optimal peptide antigens:
  • Renal carcinoma antigen NY-REN-55 (NEK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PY6

UniProtKB/Swiss-Prot:

NEK1_HUMAN :
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Family:
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
genes like me logo Genes that share domains with NEK1: view

Function for NEK1 Gene

Molecular function for NEK1 Gene

UniProtKB/Swiss-Prot Function:
Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:20230784};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:20230784};.

Enzyme Numbers (IUBMB) for NEK1 Gene

Phenotypes From GWAS Catalog for NEK1 Gene

Gene Ontology (GO) - Molecular Function for NEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IDA 15604234
GO:0004674 protein serine/threonine kinase activity IBA --
GO:0004713 protein tyrosine kinase activity IEA --
GO:0005515 protein binding IPI 14690447
genes like me logo Genes that share ontologies with NEK1: view
genes like me logo Genes that share phenotypes with NEK1: view

Human Phenotype Ontology for NEK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEK1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NEK1 Gene

Localization for NEK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEK1 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Note=Associated with the pericentriolar material (PubMed:21211617). Localizes to centrosome during interphase and mitosis (By similarity). Translocated from cytoplasm to discrete nuclear foci at sites of DNA damage (PubMed:15604234). {ECO:0000250 UniProtKB:P51954, ECO:0000269 PubMed:15604234, ECO:0000269 PubMed:21211617}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEK1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 21211617
GO:0005634 nucleus IDA 15604234
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 15604234
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with NEK1: view

Pathways & Interactions for NEK1 Gene

PathCards logo

SuperPathways for NEK1 Gene

No Data Available

SIGNOR curated interactions for NEK1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for NEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IDA 19158487
GO:0007049 cell cycle IEA --
GO:0007346 regulation of mitotic cell cycle IBA --
GO:0016310 phosphorylation IEA --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with NEK1: view

No data available for Pathways by source for NEK1 Gene

Drugs & Compounds for NEK1 Gene

(5) Drugs for NEK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for NEK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with NEK1: view

Transcripts for NEK1 Gene

mRNA/cDNA for NEK1 Gene

11 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEK1

Alternative Splicing Database (ASD) splice patterns (SP) for NEK1 Gene

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:

Relevant External Links for NEK1 Gene

GeneLoc Exon Structure for
NEK1

Expression for NEK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEK1 Gene

mRNA differential expression in normal tissues according to GTEx for NEK1 Gene

This gene is overexpressed in Nerve - Tibial (x5.3).

Protein differential expression in normal tissues from HIPED for NEK1 Gene

This gene is overexpressed in Testis (23.7), Adrenal (15.0), and Ovary (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NEK1 Gene



Protein tissue co-expression partners for NEK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEK1

SOURCE GeneReport for Unigene cluster for NEK1 Gene:

Hs.481181

mRNA Expression by UniProt/SwissProt for NEK1 Gene:

Q96PY6-NEK1_HUMAN
Tissue specificity: High fetal expression in the brain and kidney.

Evidence on tissue expression from TISSUES for NEK1 Gene

  • Liver(4.6)
  • Nervous system(4.6)
  • Bone marrow(4.2)
  • Kidney(2.4)
  • Intestine(2)
  • Blood(2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • ear
  • epiglottis
  • face
  • head
  • larynx
  • lip
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • liver
Pelvis:
  • pelvis
  • penis
  • placenta
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NEK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for NEK1 Gene

Orthologs for NEK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NEK1 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NEK1 30 31
  • 90.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nek1 30 17 31
  • 85.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NEK1 30 31
  • 85.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nek1 30
  • 85.08 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NEK1 31
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NEK1 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NEK1 30 31
  • 73.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NEK1 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nek1 30
  • 65.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii nek1 30 31
  • 56.65 (n)
OneToOne
wufb55c03 30
Worm
(Caenorhabditis elegans)
Secernentea ZC581.1 32
  • 41 (a)
Y39G10AR.4 32
  • 41 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 72 (a)
OneToMany
Species where no ortholog for NEK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NEK1 Gene

ENSEMBL:
Gene Tree for NEK1 (if available)
TreeFam:
Gene Tree for NEK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEK1: view image

Paralogs for NEK1 Gene

(13) SIMAP similar genes for NEK1 Gene using alignment to 3 proteins:

  • NEK1_HUMAN
  • D6RBG5_HUMAN
  • H0Y8M6_HUMAN
genes like me logo Genes that share paralogs with NEK1: view

Variants for NEK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEK1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
642879 Conflicting Interpretations: Short rib-polydactyly syndrome, Majewski type 169,562,154(-) T/C MISSENSE_VARIANT
648265 Likely Benign: Short rib-polydactyly syndrome, Majewski type 169,477,183(-) C/T MISSENSE_VARIANT
653018 Uncertain Significance: Short rib-polydactyly syndrome, Majewski type 169,438,160(-) G/A MISSENSE_VARIANT
667905 Benign: not provided 169,587,435(-) T/C INTRON_VARIANT
667906 Benign: not provided 169,585,839(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NEK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NEK1 Gene

Variant ID Type Subtype PubMed ID
dgv5468n100 CNV gain 25217958
esv2448929 CNV deletion 19546169
esv2661231 CNV deletion 23128226
esv2674030 CNV deletion 23128226
esv3392090 CNV insertion 20981092
esv3433414 CNV duplication 20981092
esv3446900 CNV insertion 20981092
esv3564984 CNV deletion 23714750
esv3569822 CNV loss 25503493
esv3603120 CNV loss 21293372
esv3603121 CNV loss 21293372
esv3603122 CNV loss 21293372
nsv1148403 CNV duplication 26484159

Variation tolerance for NEK1 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.17; 80.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEK1 Gene

Human Gene Mutation Database (HGMD)
NEK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEK1 Gene

Disorders for NEK1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for NEK1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 6 with or without polydactyly
  • srtd6
amyotrophic lateral sclerosis 24
  • amyotrophic lateral sclerosis, susceptibility to, 24
mohr syndrome
  • orofaciodigital syndrome ii; ofd2
short-rib thoracic dysplasia 12
  • srtd12
short-rib thoracic dysplasia 3 with or without polydactyly
  • majewski syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NEK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEK1_HUMAN
  • Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:22499340}. Note=The disease is caused by mutations affecting the gene represented in this entry. In some cases NEK1 mutations result in disease phenotype in the presence of mutations in DYNC2H1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269 PubMed:21211617}.
  • Amyotrophic lateral sclerosis 24 (ALS24) [MIM:617892]: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:26945885, ECO:0000269 PubMed:27455347}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for NEK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NEK1: view

No data available for Genatlas for NEK1 Gene

Publications for NEK1 Gene

  1. NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response. (PMID: 15604234) Polci R … Chen Y (Cancer research 2004) 3 4 23
  2. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. (PMID: 27455347) Kenna KP … Landers JE (Nature genetics 2016) 3 4
  3. NEK1 mutations in familial amyotrophic lateral sclerosis. (PMID: 26945885) Brenner D … Weishaupt JH (Brain : a journal of neurology 2016) 3 4
  4. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. (PMID: 26167768) Wheway G … Johnson CA (Nature cell biology 2015) 3 4
  5. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. (PMID: 22499340) El Hokayem J … Cormier-Daire V (Journal of medical genetics 2012) 3 4

Products for NEK1 Gene

Sources for NEK1 Gene