Surfactant, Pulmonary-Associated Protein A1

Alternative Names

  • SFTPA1
  • Pulmonary Surfactant Apoprotein PSP-A
  • PSAP
  • Surfactant-Associated Protein, Pulmonary 1
  • SFTP1
  • Pulmonary Surfactant-Associated Protein, 35-Kd
  • PSPA
  • SPA
  • SPA1
  • Collectin 4
  • COLEC4

Associated Diseases

Interstitial Lung Disease 1
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OMIM Number

178630

NCBI Gene ID

653509

Uniprot ID

Q8IWL2

Length

4,517 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Pulmonary surfactant-associated protein A1

Molecular Mass

26242 Da

Amino Acid Count

248

Genomic Location

chr10:79,610,938-79,615,454

Gene Map Locus
10q22.3

Description

This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001093770.2:c.293G>CUnited Arab EmiratesNC_000010.11:g.79612387G>CLikely Pathogenic, Uncertain SignificanceInterstitial Lung Disease 1NG_021189.1:g.6449G>C; NM_001093770.2:c.293G>C; NP_001087239.2:p.Gly98Ala762122985
NM_005411.5:c.630C>GUnited Arab EmiratesNC_000010.11:g.79613996C>GLikely BenignUncertain SignificanceNG_021189.1:g.8058C>G; NM_005411.5:c.630C>G; NP_005402.3:p.Asn210Lys150214547227943
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