SFTPA1
Pulmonary surfactant-associated protein A1
Also known as: COLEC4, SFTA1_HUMAN, SFTP1, SP-A, SP-A1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IWL2
- Gene
- SFTPA1
- Ensembl
- ENSG00000122852
- Chromosome
- 10
- Canonical length
- 248 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted in other tissues
- Quaternary structure
- Homotrimer
OverviewNCBI Gene
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. [provided by RefSeq, May 2010]
Canonical amino-acid sequenceUniProt
248 residues, UniProt reviewed canonical sequence.
>Q8IWL2|SFTPA1
1 MWLCPLALNL ILMAASGAVC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGL KGDPGPPGPM
61 GPPGEMPCPP GNDGLPGAPG IPGECGEKGE PGERGPPGLP AHLDEELQAT LHDFRHQILQ
121 TRGALSLQGS IMTVGEKVFS SNGQSITFDA IQEACARAGG RIAVPRNPEE NEAIASFVKK
181 YNTYAYVGLT EGPSPGDFRY SDGTPVNYTN WYRGEPAGRG KEQCVEMYTD GQWNDRNCLY
241 SRLTICEFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SFTPA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.48
- Highest tissue expression
- 6,680 nTPM
Expression across tissuesHPA
Tissue
- lung: 6,680 nTPM
- adrenal gland: 6.3 nTPM
- ovary: 5.6 nTPM
- spleen: 4.6 nTPM
- seminal vesicle: 4.5 nTPM
- stomach: 3.6 nTPM
Single-cell type
- alveolar cells type 2: 15,063 nCPM
- transitional alveolar cells: 2,015 nCPM
- alveolar cells type 1: 262 nCPM
- respiratory ionocytes: 109 nCPM
- submucosal glandular cells: 43 nCPM
- respiratory secretory cells: 40 nCPM
Immune cell
- plasmacytoid DC: 2.7 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebellum: 2.3 nTPM
- cerebral cortex: 2 nTPM
- amygdala: 1.7 nTPM
- hippocampal formation: 1.4 nTPM
- basal ganglia: 1.3 nTPM
- white matter: 1.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SFTPA1.
Disease | AllUniProt
Conditions SFTPA1 is implicated in, by any mechanism.
- Interstitial lung disease 1 (ILD1) MIM:619611
- Respiratory distress syndrome in premature infants (RDS) MIM:267450
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 104 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Interstitial lung disease 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.45
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.71
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SFTPA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SFTPA1 as an antibody target. Whether an autoantibody or antibody against SFTPA1 could matter depends on whether native SFTPA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SFTPA1 is annotated as secreted, so native SFTPA1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label SFTPA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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