SFPQ wt Allele

Preferred Label : SFPQ wt Allele;

NCIt synonyms : PSF; Splicing Factor Proline/Glutamine-Rich (Polypyrimidine Tract Binding Protein Associated) wt Allele; POMP100;

NCIt definition : Human SFPQ wild-type allele is located in the vicinity of 1p34.3 and is approximately 17 kb in length. This allele, which encodes splicing factor, proline- and glutamine-rich protein, may play a role in the modulation of RNA processing, transcription and DNA secondary structure. The gene can be involved in a translocation t(X;1)(p11.2;p34) with the TFE3 gene in some papillary renal cell carcinomas.;

NCIt note : A complex of the SFPQ gene product and the NONO gene product may play a role in both RNA splicing and the nuclear retention of defective RNAs. (FEBS Lett. 2002;531:109-14.);

GenBank Accession Number : NM_005066;

Details

Origin ID

C71418;

UMLS CUI

C2348113;

OMIM relation
- Splicing factor, proline- and glutamine-rich [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34.3 [NCIt concept]
gene_is_element_in_pathway
- Double Stranded RNA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Splicing [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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