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FLASH GENE
Symbol SFTPA1 contributors: mct - updated : 07-05-2019
HGNC name surfactant, pulmonary-associated protein A1
HGNC id 10798
Location 10q22.3      Physical location : 81.370.694 - 81.375.198
Synonym name
  • pulmonary surfactant apoprotein
  • 35 kDa pulmonary surfactant-associated protein
  • alveolar proteinosis protein
  • collectin-4
  • Synonym symbol(s) SFTP1@, SP-A, SP-A1, PSAP, COLEC4, SFTPA1B, FLJ50593, FLJ51913, FLJ61144, FLJ77898, FLJ79095, FLJ99559, MGC133365, MGC198590
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 4.52 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC387691 10 LOC387691 RAI17 10q23.2 retinoic acid induced 17 PPIF 10q22.3 peptidylprolyl isomerase F (cyclophilin F) FLJ90798 10q23.1 hypothetical protein FLJ90798 LOC338586 10q23.1 similar to XRnf12C LOC143244 10q23.1 similar to eukaryotic initiation factor 5A isoform I variant A LOC389981 10 similar to mannose-binding protein A LOC389982 10 similar to mKIAA1553 protein LOC387692 10 similar to KIAA2020 protein EIF5AP1 10q23.3 eukaryotic translation initiation factor 5A pseudogene 1 LOC389983 10 similar to Gene with similarity to rat kidney-specific (KS) gene SFTPA2 10q22-q23 surfactant, pulmonary-associated protein A2 SFTPA1 10q22.3 surfactant, pulmonary-associated protein A1 LOC389984 10 similar to KIAA1553 protein LOC389985 10 similar to bA182L21.1 (novel protein similar to hypothetical proteins) LOC389986 10 similar to bA182L21.1 (novel protein similar to hypothetical proteins) LOC340736 10q23.1 similar to Cathepsin L preproprotein LOC283004 10q23.1 similar to Geranylgeranyl transferase type I beta subunit (Type I protein geranyl-geranyltransferase beta subunit) (GGTase-I-beta) LOC387693 10 similar to BMS1-like, ribosome assembly protein; ribosome biogenesis protein BMS1 homolog; cDNA sequence BC030906; EST AA408648 SFTPD 10q22.3 surfactant, pulmonary-associated protein D LOC389987 10 similar to nuclear DNA-binding protein; small unique nuclear receptor corepressor; C1D DNA-binding protein LOC389988 10 similar to nuclear DNA-binding protein; small unique nuclear receptor corepressor; C1D DNA-binding protein LOC389989 10 hypothetical gene supported by BC016284; NM_173177 FLJ13263 10q23.1 hypothetical protein FLJ13263 PLAC9 10q23.2 placenta-specific 9 ANXA11 10q22.3 annexin A11 LOC143243 10q23.1 similar to eukaryotic initiation factor 5A isoform I variant A MAT1A 10q22 methionine adenosyltransferase I, alpha LOC143241 10q23.1 hypothetical protein BC019250 MGC16186 10q23.1 hypothetical protein MGC16186 MGC4248 10q23.1 hypothetical protein MGC4248 DC-TM4F2 10q23.1 tetraspanin similar to TM4SF9 LOC387694 10 similar to hypothetical protein D030001E08
    RNA
    TRANSCRIPTS type messenger
    text four different classes of transcripts alternatively spliced at their 5' end (McCormick)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2080 - 199 - 2018 29621540
    6 - 2186 - 248 - 2018 29621540
    6 - 2072 - 214 - 2018 29621540
    6 - 2215 - 248 - 2018 29621540
    6 - 2216 - 263 - 2018 29621540
    5 - 2159 - 248 - 2018 29621540
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate   
    Respiratorylung     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryalveolar cell type 1 Homo sapiens
    Respiratoryalveolar cell type II Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • N terminal segment required for the association of trimeric subunits into higher oligomers, phospholipid aggregation and specific inhibition of surfactant secretion, collagen like lectin
  • secondary structure SPA2 and SPA1
    conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies homolog to murine Sftpa
    Homologene
    FAMILY collectin family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • playing an important role in innate immunity
  • involved in host defense and inflammatory processes of the lung
  • also involved in the surface tension lowering ability of pulmonary surfactant
  • plays an important role in the lung during bacterial infection regulating protease and antiprotease activity
  • stimulates the release of neutrophil chemotactic factor by alveolar type II cells, and this effect is mediated by the receptor for SFTPA1 specifically expressed by these cells
  • most abundant pulmonary soluble collectin, that modulates innate and adaptive immunity of the lung, partially via its direct effects on alveolar macrophages (AM)
  • novel role for SFTPA1 in modulating endolysosomal trafficking via RAB7A in primary alveolar macrophages (AM)
  • SFTPA1, SFTPA2 plays a key role in innate lung host defense, in surfactant-related functions, and in parturition
  • plays critical roles in the innate immune system and surfactant homeostasis of the lung
  • SFTPA1 levels may be important to maintain surfactant function in the presence of high cholesterol within surfactant
  • fetal lungs produce signals to initiate labor when mature and NCOA1/NCOA2-dependent production of SFTPA1B and platelet-activating factor (PAF) is crucial for this process
  • associated with host defense in the lung, and contributes to the pathogenesis of chronic obstructive pulmonary disease (COPD)
  • innate host defense molecules, surfactant protein A1 (SFTPA1), and SFTPA2 differentially affect the function and proteome of the alveolar macrophages
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component
  • component of a complex with SFTPA2 and SFTPD
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SFTPB
  • in human fetal lung epithelial cells, SUV39H1 and SUV39H2 mRNA levels declined with cAMP induction of SFTPA1
  • SFTPA1 protects lung epithelium from tissue injury caused by DEF103B
  • LEP promotes fetal lung maturity and upregulates SFPTA1 expression in pulmonary alveoli type-II epithelial cells involving TTF1 activation
  • cell & other surfactant-associated glycoprotein
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in idiopathic pulmonary fibrosis (IPF)
    Susceptibility
  • to idiopathic pulmonary fibrosis
  • to tuberculosis
  • idiopathic interstitial pneumonia (IIP)
  • Variant & Polymorphism SNP
  • 307A and 776T, increasing the risk of tuberculosis, in Ethiopia
  • heterozygous single nucleotide variant Val178Met in the SFTPA1 gene is associated with IIP
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sftpa1 knock-in (Sftpa1-KI) mice that harbored the same mutation as patients spontaneously developed pulmonary fibrosis that was accelerated by influenza virus infection