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Aliases for NEK1 Gene

Aliases for NEK1 Gene

  • NIMA-Related Kinase 1 2 3
  • NIMA (Never In Mitosis Gene A)-Related Kinase 1 2 3
  • 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 63
  • Protein-Serine/Threonine Kinase 3
  • NY-REN-55 3
  • EC 2.7.11 63
  • KIAA1901 4
  • SRPS2A 3
  • SRPS2 3
  • SRTD6 3

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 short-rib thoracic dysplasia 3 with or without polydactyly. 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 NEK2.

UniProtKB/Swiss-Prot for NEK1 Gene

  • Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis (By similarity). Involved in cilium assembly. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death.

Gene Wiki entry for NEK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEK1 Gene

Genomics for NEK1 Gene

Regulatory Elements for NEK1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NEK1 Gene

Chromosome:
4
Start:
169,393,270 bp from pter
End:
169,612,629 bp from pter
Size:
219,360 bases
Orientation:
Minus strand

Genomic View for NEK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 SPERT.
    SequenceCaution:
    • Sequence=AAH15147.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB15207.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55209.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB67794.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NEK1 Gene

    Alternative splice isoforms for NEK1 Gene

neXtProt entry for NEK1 Gene

Proteomics data for NEK1 Gene at MOPED

Selected DME Specific Peptides for NEK1 Gene

Post-translational modifications for NEK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NEK1 Gene

Gene Families for NEK1 Gene

Suggested Antigen Peptide Sequences for NEK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PY6

UniProtKB/Swiss-Prot:

NEK1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Domain:
  • Contains 1 protein kinase domain.
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 CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot 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. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death.

Enzyme Numbers (IUBMB) for NEK1 Gene

Gene Ontology (GO) - Molecular Function for NEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 15604234
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004708 MAP kinase 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

Animal Model Products

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. Note=Associated with the pericentriolar material. Localizes to centrosome during interphase and mitosis (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEK1 Gene COMPARTMENTS Subcellular localization image for NEK1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5

Gene Ontology (GO) - Cellular Components for NEK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 21211617
GO:0005622 intracellular IBA --
GO:0005634 nucleus IDA 15604234
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

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:0000165 MAPK cascade IBA --
GO:0000187 activation of MAPK activity IBA --
GO:0001822 kidney development IEA --
GO:0006468 protein phosphorylation IDA 19158487
GO:0006974 cellular response to DNA damage stimulus 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

(4) Drugs for NEK1 Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0
serine Nutra 420
threonine Nutra 16

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with NEK1: view

Transcripts for NEK1 Gene

Unigene Clusters for NEK1 Gene

NIMA-related kinase 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NEK1

Expression for NEK1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NEK1 Gene



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.
genes like me logo Genes that share expression patterns with NEK1: view

Protein tissue co-expression partners for NEK1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia NEK1 35
  • 85.55 (n)
  • 83.14 (a)
NEK1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NEK1 35
  • 90.33 (n)
  • 87.17 (a)
NEK1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nek1 35
  • 85.81 (n)
  • 82.88 (a)
Nek1 16
Nek1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NEK1 35
  • 99.66 (n)
  • 99.69 (a)
NEK1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nek1 35
  • 85.08 (n)
  • 82.42 (a)
oppossum
(Monodelphis domestica)
Mammalia NEK1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEK1 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEK1 35
  • 73.44 (n)
  • 69.78 (a)
NEK1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEK1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nek1 35
  • 65.96 (n)
  • 62.11 (a)
zebrafish
(Danio rerio)
Actinopterygii nek1 35
  • 56.65 (n)
  • 50.24 (a)
wufb55c03 35
nek1 36
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y39G10AR.4 37
  • 41 (a)
ZC581.1 37
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 72 (a)
OneToMany
Species with no ortholog for NEK1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for NEK1 Gene

Paralogs for NEK1 Gene

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

genes like me logo Genes that share paralogs with NEK1: view

Variants for NEK1 Gene

Sequence variations from dbSNP and Humsavar for NEK1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
VAR_040900 -
VAR_040901 A lung large cell carcinoma sample
VAR_040902 -
VAR_040903 A lung adenocarcinoma sample
VAR_040904 -

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

Variant ID Type Subtype PubMed ID
esv2661231 CNV Deletion 23128226
dgv5824n71 CNV Loss 21882294
esv2448929 CNV Deletion 19546169
esv2674030 CNV Deletion 23128226

Variation tolerance for NEK1 Gene

Residual Variation Intolerance Score: 77.79% 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)

Relevant External Links for NEK1 Gene

HapMap Linkage Disequilibrium report
NEK1
Human Gene Mutation Database (HGMD)
NEK1

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

Disorders for NEK1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NEK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 6 with or without polydactyly
  • short rib-polydactyly syndrome, type iia
short-rib thoracic dysplasia 3 with or without polydactyly
  • saldino-noonan syndrome
asphyxiating thoracic dystrophy
  • jeune syndrome
ellis-van creveld syndrome
  • chondroectodermal dysplasia
cranioectodermal dysplasia 1
  • sensenbrenner syndrome
- elite association
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}.

Relevant External Links for NEK1

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

No data available for Genatlas for NEK1 Gene

Publications for NEK1 Gene

  1. Characterization of a poplar NIMA-related kinase PNek1 and its potential role in meristematic activity. (PMID: 16098516) Cloutier M. … SAcguin A. (FEBS Lett. 2005) 23 67
  2. NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response. (PMID: 15604234) Polci R. … Chen Y. (Cancer Res. 2004) 23 67
  3. WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. (PMID: 11571656) Verissimo F. … Jordan P. (Oncogene 2001) 23 67
  4. Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice. (PMID: 10618398) Upadhya P. … Barker J.E. (Proc. Natl. Acad. Sci. U.S.A. 2000) 23 67
  5. The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17. (PMID: 9799091) Aronsson F.C. … Brookes A.J. (Hum. Genet. 1998) 23 67

Products for NEK1 Gene

Sources for NEK1 Gene

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