PQBP1 wt Allele

Preferred Label : PQBP1 wt Allele;

NCIt synonyms : Nuclear Protein Containing a WW Domain, 38-kD Gene; MRXS3; MRX55; Mental Retardation, X-Linked 2 (Non-Dysmorphic) Gene; MRXS8; RENS1; NPW38; Polyglutamine Binding Protein 1 wt Allele; SHS; MRX2; Mental Retardation, X-Linked 55 Gene; Sutherland-Haan X-Linked Mental Retardation Syndrome Gene;

NCIt definition : Human PQBP1 wild-type allele is located in the vicinity of Xp11.23 and is approximately 13 kb in length. This allele, which encodes polyglutamine-binding protein 1, plays a role in protein-protein interactions associated with pre-mRNA splicing, transcriptional activation, innate immunity and neuronal development. Mutations in the gene are associated with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability.;

NCI Metathesaurus CUI : CL1799086;

GenBank Accession Number : AJ005893;

Details

Origin ID

C190664;

UMLS CUI

C5780808;

OMIM relation
- Polyglutamine-binding protein 1 [OMIM gene]
See also inter- (CISMeF)
- Arthrogryposis, distal, type 2b1 [OMIM Phenotype]
- Intellectual developmental disorder, X-linked 2 [OMIM Phenotype]
- Renpenning syndrome 1 [OMIM Phenotype]
- non-syndromic X-linked intellectual disability 2 [DO Concept]
- renpenning syndrome 1 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Polyglutamine-binding protein 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.23 [NCIt concept]
gene_is_element_in_pathway
- Spliceosome Pathway [NCIt concept]
gene_plays_role_in_process
- Antiviral Response [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- RNA Splicing [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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