GeneID: 329
Names
Common Name: | PRSS54-RNU6-269P | Type: | Intergenic Region |
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Chromosome: | 16 (NC_000016.10) | Locus: | N/A |
HUGO Symbol: | N/A | Full Name: | N/A |
Exons: | N/A | Introns: | N/A |
Description:
The PRSS54 (serine protease 54) gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Members of the S1 peptidase family, or the trypsins, play key roles in vital biological processes, including blood coagulation, digestion and immune response. PRNU6-269P (RNA, U6 Small Nuclear 269, Pseudogene) is a pseudogene. Pseudogenes of snRNA genes form part of spliceosomal complexes that are required for intron removal from nascent pre-mRNAs. Most of these pseudogenes are amplified through an L1-dependent mechanism and can serve as a marker for L1 activity. Genetic variance in the PRSS54-RNU6-269P intergenic region associated with haematological parameters (e.g., red blood cell count).
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- Page MJ, Di Cera E, Serine peptidases: classification, structure and function., Cell. Mol. Life Sci., 65(7), 1220-36, 2008 PubMed
- Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed
- Doucet AJ, Droc G, Siol O, Audoux J, Gilbert N, U6 snRNA Pseudogenes: Markers of Retrotransposition Dynamics in Mammals., Mol. Biol. Evol., 32(7), 1815-32, 2015 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2019-12-09 09:18:15 | The IthaGenes Curation Team | Created |