HNRNPK wt Allele

Preferred Label : HNRNPK wt Allele;

NCIt synonyms : AUKS; CSBP; TUNP; Heterogeneous Nuclear Ribonucleoprotein K wt Allele; HNRPK;

NCIt definition : Human HNRNPK wild-type allele is located in the vicinity of 9q21.32 and is approximately 13 kb in length. This allele, which encodes Heterogeneous nuclear ribonucleoprotein K, plays a role in pre-mRNA binding, single-stranded DNA binding and transcriptional regulation. Mutation of the gene is associated with Au-Kline syndrome.;

NCI Metathesaurus CUI : CL552041;

GenBank Accession Number : NM_001318186;

Details

Origin ID

C150259;

UMLS CUI

C4723851;

Automatic exact mappings (from CISMeF team)
- Au-kline syndrome [OMIM Phenotype]
- Heterogeneous nuclear ribonucleoprotein k [OMIM gene]
- clothing [MeSH Descriptor]
- heterogeneous nuclear ribonucleoprotein K [ORDO Gene]
OMIM relation
- Heterogeneous nuclear ribonucleoprotein k [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q21.32 [NCIt concept]
gene_is_element_in_pathway
- Spliceosome Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- RNA Processing [NCIt concept]
- RNA-Protein Interaction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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