ACTN1 wt Allele

Preferred Label : ACTN1 wt Allele;

NCIt synonyms : BDPLT15; Actinin, Alpha 1 wt Allele; Actinin, Alpha-1 Gene;

NCIt definition : Human ACTN1 wild-type allele is located in the vicinity of 14q24 or within 14q22-q24 and is approximately 105 kb in length. This allele, which encodes alpha-actinin-1 protein, is involved in the formation of F-actin crosslinks. Mutation of the gene is associated with autosomal dominant platelet-type bleeding disorder-15.;

NCIt note : Ensembl reports that this gene is located in the vicinity of 14q24.1.;

GenBank Accession Number : M95178;

Details

Origin ID

C124921;

UMLS CUI

C4085341;

Automatic exact mappings (from CISMeF team)
- platelet-type bleeding disorder 15 [DO Concept]
OMIM relation
- Actinin, alpha-1 [OMIM gene]
See also inter- (CISMeF)
- Bleeding disorder, platelet-type, 15 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q24 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Adherens Junction Assembly Pathway [NCIt concept]
- Adherens Junction Stabilization Pathway [NCIt concept]
- Amoebiasis Pathway [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- Syndecan-4-Mediated Signaling Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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