• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NEK1 (HGNC:7744) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NIMA related kinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
NY-REN-55, KIAA1901
%HI
39.72(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
4q33
Genomic Coordinates
GRCh37/hg19: chr4:170313960-170533734 NCBI Ensembl UCSC
GRCh38/hg38: chr4:169392809-169612583 NCBI Ensembl UCSC
MANE Select Transcript
NM_001199397.3 ENST00000507142.6 (Read more about MANE Select)
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). {ECO:0000250|UniProtKB:P51954, ECO:0000269|PubMed:20230784, ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21497
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/01/2013

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • short-rib thoracic dysplasia 6 with or without polydactyly Monarch
HI Evidence Comments:
Mutations in NEK1 are associated with short-rib polydactyly syndrome type IIA, or Majewski type, a condition inherited in an autosomal recessive manner. Most reported cases have involved consanguineous families and have thus had homozygous mutations in NEK1. From OMIM #263520: "Another form of short rib-polydactyly syndrome type II (Majewski syndrome), here designated IIB (615087), is caused by mutation in the DYNC2H1 (603297) gene on chromosome 11q13. There is also evidence that short rib-polydactyly type II can be caused by digenic biallelic mutation in the NEK1 and DYNC2H1 genes." For additional information, please also see OMIM #604588.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)