UBA1 wt Allele

Preferred Label : UBA1 wt Allele;

NCIt synonyms : AMCX1; Ubiquitin-Activating Enzyme E1 (A1S9T and BN75 Temperature Sensitivity Complementing) Gene; A1ST; VEXAS; BN75 Temperature Sensitivity Complementing Gene; A1S9T; SMAX2; UBA1A; POC20 Centriolar Protein Homolog (Chlamydomonas) Gene; UBA1, Ubiquitin-Activating Enzyme E1 Homolog A Gene; Ubiquitin Like Modifier Activating Enzyme 1 wt Allele; A1S9T and BN75 Temperature Sensitivity Complementing Gene; GXP1; Temperature-Sensitive Mutation, Mouse, Complementation of Gene; UBA1, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) Gene; A1S9; UBE1; UBE1X; CFAP124; POC20;

NCIt definition : Human UBA1 wild-type allele is located in the vicinity of Xp11.3 and is approximately 24 kb in length. This allele, which encodes ubiquitin-like modifier-activating enzyme 1 protein, plays a role in the initial step of ubiquitination. Mutation of the gene is associated with X-linked, infantile spinal muscular atrophy 2 and somatic VEXAS syndrome.;

NCI Metathesaurus CUI : CL1664719;

GenBank Accession Number : BC003153;

Details

Origin ID

C181803;

UMLS CUI

C5551199;

Automatic exact mappings (from CISMeF team)
- Infantile-onset X-linked spinal muscular atrophy [ORDO Disease]
- Spinal muscular atrophy, X-linked 2 [OMIM Phenotype]
- Ubiquitin-like modifier-activating enzyme 1 [OMIM gene]
- X-linked spinal muscular atrophy 2 [DO Concept]
- arthrogryposis multiplex congenita, distal, X-linked [MeSH Supplementary Concept]
- ubiquitin like modifier activating enzyme 1 [ORDO Gene]
OMIM relation
- Ubiquitin-like modifier-activating enzyme 2 [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
- Xp11.3 [NCIt concept]
gene_is_element_in_pathway
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- Post-Translational Modification [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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