DCPS Chromosome 11
Decapping enzyme, scavenger
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What This Gene Does
This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5′ mRNA cap structure, which appear in the 3′ → 5′ mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes the triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Histidine triad superfamily
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000110063
Associated Conditions (2)
Al-Raqad syndrome
Inborn genetic diseases
Key Variants
RS137941190
Conflicting classifications of pathogenicity
Al-Raqad syndrome, Al-Raqad syndrome
Health Risk
RS140377449
Conflicting classifications of pathogenicity
Health Risk
RS147935593
Conflicting classifications of pathogenicity
Inborn genetic diseases, Al-Raqad syndrome, Inborn genetic diseases
Health Risk
RS2497258001
Likely pathogenic
Al-Raqad syndrome, Al-Raqad syndrome
Health Risk
RS556401323
Likely pathogenic
Health Risk
RS768872827
Likely pathogenic
Al-Raqad syndrome, Al-Raqad syndrome
Health Risk
RS904572688
Likely pathogenic
Al-Raqad syndrome, Al-Raqad syndrome
Health Risk
RS1057519083
Pathogenic
Al-Raqad syndrome, Al-Raqad syndrome
Health Risk
RS138737928
Pathogenic
Al-Raqad syndrome, Al-Raqad syndrome
Health Risk
RS770528538
Pathogenic
Al-Raqad syndrome, Al-Raqad syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137941190 | Health Risk | Conflicting classifications of pathogenicity | Al-Raqad syndrome, Al-Raqad syndrome |
| RS140377449 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147935593 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Al-Raqad syndrome, Inborn genetic diseases |
| RS2497258001 | Health Risk | Likely pathogenic | Al-Raqad syndrome, Al-Raqad syndrome |
| RS556401323 | Health Risk | Likely pathogenic | — |
| RS768872827 | Health Risk | Likely pathogenic | Al-Raqad syndrome, Al-Raqad syndrome |
| RS904572688 | Health Risk | Likely pathogenic | Al-Raqad syndrome, Al-Raqad syndrome |
| RS1057519083 | Health Risk | Pathogenic | Al-Raqad syndrome, Al-Raqad syndrome |
| RS138737928 | Health Risk | Pathogenic | Al-Raqad syndrome, Al-Raqad syndrome |
| RS770528538 | Health Risk | Pathogenic | Al-Raqad syndrome, Al-Raqad syndrome |