HNRNPA1 wt Allele

Preferred Label : HNRNPA1 wt Allele;

NCIt synonyms : UP 1; hnRNP-A1; ALS19; HNRPA1; Heterogeneous Nuclear Ribonucleoprotein A1 wt Allele; IBMPFD3; HnRNP Core Protein A1-Like 3 Gene; HNRPA1L3; Putative Heterogeneous Nuclear Ribonucleoprotein A1-Like 3 Gene; hnRNP A1; ALS20;

NCIt definition : Human HNRNPA1 wild-type allele is located in the vicinity of 12q13.13 and is approximately 7 kb in length. This allele, which encodes heterogeneous nuclear ribonucleoprotein A1, is involved in RNA transport and splicing. Mutation of the gene is associated with inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 and amyotrophic lateral sclerosis 20.;

NCI Metathesaurus CUI : CL1798530;

GenBank Accession Number : BC009600;

Details

Origin ID

C189948;

UMLS CUI

C5702839;

Automatic exact mappings (from CISMeF team)
- erb-b2 receptor tyrosine kinase 4 [ORDO Gene]
OMIM relation
- Heterogeneous nuclear ribonucleoprotein a1 [OMIM gene]
See also inter- (CISMeF)
- Amyotrophic lateral sclerosis 19 [OMIM Phenotype]
- Amyotrophic lateral sclerosis 20 [OMIM Phenotype]
- Heterogeneous Nuclear Ribonucleoprotein A1 [MeSH Descriptor]
- Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 [OMIM Phenotype]
- amyotrophic lateral sclerosis type 19 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Heterogeneous nuclear ribonucleoprotein a1 [OMIM gene]
- heterogeneous nuclear ribonucleoprotein A1 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q13.13 [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
- Spliceosome Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- RNA Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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