SFTPA1 wt Allele

Preferred Label : SFTPA1 wt Allele;

NCIt synonyms : SPA1; PSAP; Surfactant, Pulmonary-Associated Protein A1A Gene; PSPA; COLEC4; SP-A1; SFTP1; SFTPA1B; SPA; SP-A1 gamma; SP-A1 epsilon; SP-A1 beta; ILD1; SP-A; Surfactant, Pulmonary-Associated Protein A1B Gene; Pulmonary Surfactant-Associated Protein, 35-kD Gene; Surfactant, Pulmonary-Associated Protein A1 Gene; SP-A1 delta; Surfactant-Associated Protein, Pulmonary 1 Gene; PSP-A; Surfactant Protein A1 wt Allele;

NCIt definition : Human SFTPA1 wild-type allele is located in the vicinity of 10q22.3 and is approximately 5 kb in length. This allele, which encodes pulmonary surfactant-associated protein A1, plays a role in the defense against respiratory pathogens. Mutation of the gene is associated with interstitial lung disease 1.;

NCI Metathesaurus CUI : CL1798655;

GenBank Accession Number : BC026229;

Details

Origin ID

C189766;

UMLS CUI

C5702834;

Automatic exact mappings (from CISMeF team)
- Mitochondrial carrier homolog 1 [OMIM gene]
- Prosaposin [OMIM gene]
- Signal-induced proliferation-associated gene 1 [OMIM gene]
OMIM relation
- Surfactant, pulmonary-associated protein a1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Surfactant, pulmonary-associated protein a1 [OMIM gene]
- surfactant protein A1 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q22.3 [NCIt concept]
gene_is_element_in_pathway
- FOXA1 Transcription Factor Signaling Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Lung Development [NCIt concept]
- Respiratory Process [NCIt concept]

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