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Gene

SFTPA1

surfactant protein A1

Summary

Cytogenetic location
10q22.3
Coordinates
Chromosome 10: 79,610,939–79,615,443 (GRCh38)
Exons
6 exons across 4.5 kb
Protein
248 amino acids
Inheritance
Autosomal dominant
Also known as
SP-A, SP-A1, COLEC4
Previous symbols
SFTP1
MANE Select transcript
ENST00000398636.8NM_005411.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Familial Pulmonary Fibrosis

    • Interstitial Lung Disease 1 (SFTPA1-related)Autosomal dominant

      Variants in the surfactant protein A1 gene (SFTPA1) can cause familial pulmonary fibrosis, and in some families lung cancer.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SFTPA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 10, with a bracket where SFTPA1 sits. SFTPA1 and 9 genes near it on chromosome 10, from 79,113,191 to 80,113,190.Chromosome 1010q22.3p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.379.2 Mb79.4 Mb79.6 Mb79.8 Mb80 MbZMIZ1: 79,068,904–79,316,550, forward strandZMIZ1PPIF: 79,347,461–79,355,350, forward strandPPIFZCCHC24: 79,351,307–79,445,673, reverse strandZCCHC24EIF5AL1: 79,512,533–79,516,440, forward strandEIF5AL1SFTPA2: 79,555,761–79,611,921, reverse strandSFTPA2SFTPA1: 79,610,939–79,615,443, forward strandSFTPA1NUTM2B: 79,703,227–79,714,681, forward strandNUTM2BNUTM2E: 79,826,739–79,850,878, forward strandNUTM2ESFTPD: 79,936,423–79,983,996, reverse strandSFTPDTMEM254: 80,078,641–80,092,862, forward strandTMEM254Diagram of SFTPA1: 6 exons on the forward strand of chromosome 10Exon 1: 79,610,939–79,610,982, 44 basesExon 2: 79,611,319–79,611,389, 71 basesExon 3: 79,611,803–79,611,997, 195 basesExon 4: 79,612,312–79,612,431, 120 basesExon 5: 79,613,189–79,613,266, 78 basesExon 6: 79,613,737–79,615,443, 1,707 bases1234565′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.2 kb of the gene's 4.5 kb; 747 of those bases code for the protein.

Traits linked to SFTPA1

The Human Phenotype Ontology lists these as features of the rare conditions SFTPA1 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SFTPA1 gene: surfactant protein A1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sftpa1

Vancouver

Dante Labs. SFTPA1 gene: surfactant protein A1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sftpa1

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