NEK1 |
- 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)