CHEK1 Chromosome 11
Checkpoint kinase 1
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What This Gene Does
The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Checkpoint kinase 1 family
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000149554
Associated Conditions (2)
Male infertility due to gonadal dysgenesis or sperm disorder
Oocyte/zygote/embryo maturation arrest 21
Key Variants
RS199535573
Likely pathogenic
Male infertility due to gonadal dysgenesis or sperm disorder, Male infertility due to gonadal dysgenesis or sperm disorder
Health Risk
RS2136029824
Pathogenic
Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
Health Risk
RS2498413938
Pathogenic
Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
Health Risk
RS2498414424
Pathogenic
Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
Health Risk
RS2498414471
Pathogenic
Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199535573 | Health Risk | Likely pathogenic | Male infertility due to gonadal dysgenesis or sperm disorder, Male infertility due to gonadal dysgenesis or sperm disorder |
| RS2136029824 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21 |
| RS2498413938 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21 |
| RS2498414424 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21 |
| RS2498414471 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21 |