STEEP1 wt Allele

Preferred Label : STEEP1 wt Allele;

NCIt synonyms : CXorf56; FLJ22965; STING1 ER Exit Protein 1 wt Allele; MRX107; Chromosome X Open Reading Frame 56 Gene;

NCIt definition : Human STEEP1 wild-type allele is located in the vicinity of Xq24 and is approximately 27 kb in length. This allele, which encodes STING exit protein, is involved in the modulation of stimulator of interferon genes protein (STING) cellular localization and signaling activity. Mutation of the gene may be associated with X-linked mental retardation 107.;

NCI Metathesaurus CUI : CL1648335;

GenBank Accession Number : AK026618;

Details

Origin ID

C178714;

UMLS CUI

C5551067;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, X-linked 107 [OMIM Phenotype]
- STING1 ER exit protein 1 [ORDO Gene]
- Sting1 er exit protein 1 [OMIM gene]
OMIM relation
- Sting1 er exit protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq24 [NCIt concept]
gene_plays_role_in_process
- Interferon Signaling Process [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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