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 ... See more...

Aliases for SFTPA1 Gene

Aliases for SFTPA1 Gene

  • Surfactant Protein A1 2 3 5
  • COLEC4 2 3 4
  • SP-A1 2 3 4
  • SP-A 2 3 4
  • 35 KDa Pulmonary Surfactant-Associated Protein 3 4
  • Surfactant, Pulmonary-Associated Protein A1A 2 3
  • Pulmonary Surfactant-Associated Protein A1 3 4
  • Alveolar Proteinosis Protein 3 4
  • Collectin-4 3 4
  • SFTPA1B 3 4
  • PSP-A 3 4
  • SFTP1 3 4
  • PSAP 3 4
  • PSPA 3 4
  • Surfactant, Pulmonary-Associated Protein A1B 3
  • Surfactant, Pulmonary-Associated Protein A1 2
  • Surfactant Protein A1B 3
  • SP-A1 Epsilon 3
  • SP-A1 Delta 3
  • SP-A1 Gamma 3
  • SP-A1 Beta 3
  • SFTPA1 5
  • SFTPA 4
  • SPA1 3
  • SPA 3

External Ids for SFTPA1 Gene

Previous HGNC Symbols for SFTPA1 Gene

  • SFTP1

Previous GeneCards Identifiers for SFTPA1 Gene

  • GC10P080327
  • GC10P080580
  • GC10P081583
  • GC10P081035
  • GC10P081360
  • GC10P075365
  • GC10P081372
  • GC10P081384
  • GC10P081509
  • GC10P080037
  • GC10P080062
  • GC10P082716
  • GC10P082997
  • GC10P083190
  • GC10P083656
  • GC10P080086
  • GC10P080109
  • GC10P080134
  • GC10P080156
  • GC10P080357
  • GC10P080378
  • GC10P081537
  • GC10P082428
  • GC10P084171
  • GC10P084765

Summaries for SFTPA1 Gene

Entrez Gene Summary for SFTPA1 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]

GeneCards Summary for SFTPA1 Gene

SFTPA1 (Surfactant Protein A1) is a Protein Coding gene. Diseases associated with SFTPA1 include Pulmonary Fibrosis and Pulmonary Fibrosis, Idiopathic. Among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and Bacterial infections in CF airways. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and lipid transporter activity. An important paralog of this gene is SFTPA2.

UniProtKB/Swiss-Prot Summary for SFTPA1 Gene

  • In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity).
  • (Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFTPA1 Gene

Genomics for SFTPA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SFTPA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J079066 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250 -534.6 -534636 20.5 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 IKZF1 SIX5 JUND ZNF580 ZMIZ1-AS1 SFTPA1 LOC642361 ENSG00000272489 ENSG00000224886 ZMIZ1 SFTPD-AS1 HSALNG0079123 HSALNG0079124 AB372673-001
GH10J079610 Promoter 0.3 EPDnew 250.7 0.0 -18 0.1 SFTPA1 MBL1P SFTPA2 HSALNG0079149-001 SFTPA3P LINC02679
GH10J080578 Enhancer 0.3 Ensembl 4.9 +969.8 969762 5 MYC POLR2A LOC101929574 SH2D4B DYDC1 DYDC2 TSPAN14 SFTPA1 EIF5AP4 hsa-miR-5095-046 piR-33303-023
GH10J080553 Enhancer 0.2 Ensembl 5 +942.7 942662 0.8 SH2D4B SFTPA1 piR-33303-023 hsa-miR-5095-046
GH10J079629 Enhancer 0.5 Ensembl 0.4 +18.4 18362 0.2 YY1 RXRA JUND HNF4A REST MAX SP1 HNF1A SFTPA2 HSALNG0079152 HSALNG0079155-001 SFTPA1 LINC02679 NUTM2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFTPA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFTPA1

Top Transcription factor binding sites by QIAGEN in the SFTPA1 gene promoter:
  • AP-1
  • ATF-2

Genomic Locations for SFTPA1 Gene

Latest Assembly
chr10:79,610,939-79,615,455
(GRCh38/hg38)
Size:
4,517 bases
Orientation:
Plus strand

Previous Assembly
chr10:81,370,695-81,375,211
(GRCh37/hg19 by Entrez Gene)
Size:
4,517 bases
Orientation:
Plus strand

chr10:81,370,695-81,375,196
(GRCh37/hg19 by Ensembl)
Size:
4,502 bases
Orientation:
Plus strand

Genomic View for SFTPA1 Gene

Genes around SFTPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFTPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFTPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFTPA1 Gene

Proteins for SFTPA1 Gene

  • Protein details for SFTPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWL2-SFTA1_HUMAN
    Recommended name:
    Pulmonary surfactant-associated protein A1
    Protein Accession:
    Q8IWL2
    Secondary Accessions:
    • A8K3T8
    • B7ZW50
    • E3VLD8
    • E3VLD9
    • E3VLE0
    • E3VLE1
    • G5E9J3
    • P07714
    • Q14DV4
    • Q5RIR5
    • Q5RIR7
    • Q6PIT0
    • Q8TC19

    Protein attributes for SFTPA1 Gene

    Size:
    248 amino acids
    Molecular mass:
    26242 Da
    Quaternary structure:
    • Oligomeric complex of 6 set of homotrimers.
    • (Microbial infection) Binds M.bovis cell surface protein Apa via its glycosylated sites; probably also recognizes other bacterial moieties.
    • (Microbial infection) Binds to the S.aureus extracellular adherence protein, Eap, thereby enhancing phagocytosis and killing of S.aureus by alveolar macrophages.
    Miscellaneous:
    • Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).

    Alternative splice isoforms for SFTPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFTPA1 Gene

Post-translational modifications for SFTPA1 Gene

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for SFTPA1

No data available for DME Specific Peptides for SFTPA1 Gene

Domains & Families for SFTPA1 Gene

Gene Families for SFTPA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for SFTPA1 Gene

Suggested Antigen Peptide Sequences for SFTPA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61144, highly similar to Pulmonary surfactant-associated protein A1 (B4DNW5_HUMAN)
  • Surfactant, pulmonary-associated protein A2, isoform CRA_a (E3VLD8_HUMAN)
  • Surfactant protein A1 variant AD' 6A2 (E3VLD9_HUMAN)
  • Surfactant protein A1 variant AD' 6A3 (E3VLE0_HUMAN)
  • Surfactant protein A1 variant AD' 6A4 (E3VLE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IWL2

UniProtKB/Swiss-Prot:

SFTA1_HUMAN :
  • Belongs to the SFTPA family.
Family:
  • Belongs to the SFTPA family.
genes like me logo Genes that share domains with SFTPA1: view

Function for SFTPA1 Gene

Molecular function for SFTPA1 Gene

UniProtKB/Swiss-Prot Function:
In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169).
GENATLAS Biochemistry:
surfactant-associated glycoprotein A member of the collectin family,including pulmonary A1 and A2 isoforms,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

Phenotypes From GWAS Catalog for SFTPA1 Gene

Gene Ontology (GO) - Molecular Function for SFTPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity TAS 2995821
GO:0005515 protein binding IPI 10101009
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with SFTPA1: view
genes like me logo Genes that share phenotypes with SFTPA1: view

Human Phenotype Ontology for SFTPA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SFTPA1 Gene

MGI Knock Outs for SFTPA1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPA1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SFTPA1 Gene

Localization for SFTPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFTPA1 Gene

Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFTPA1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
endosome 3
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SFTPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005771 multivesicular body IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with SFTPA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SFTPA1 Gene

Pathways & Interactions for SFTPA1 Gene

genes like me logo Genes that share pathways with SFTPA1: view

Pathways by source for SFTPA1 Gene

2 KEGG pathways for SFTPA1 Gene
2 GeneGo (Thomson Reuters) pathways for SFTPA1 Gene
  • Bacterial infections in CF airways
  • Immune response TLR signaling pathways

Gene Ontology (GO) - Biological Process for SFTPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0006869 lipid transport IEA --
GO:0007585 respiratory gaseous exchange IEA --
GO:0008228 opsonization IMP 21123169
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SFTPA1: view

No data available for SIGNOR curated interactions for SFTPA1 Gene

Drugs & Compounds for SFTPA1 Gene

(2) Drugs for SFTPA1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-(N-morpholino)ethanesulfonic acid Experimental Pharma Target 0
Calcium Nutra 6959
genes like me logo Genes that share compounds with SFTPA1: view

Transcripts for SFTPA1 Gene

mRNA/cDNA for SFTPA1 Gene

6 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFTPA1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SFTPA1 Gene

No ASD Table

Relevant External Links for SFTPA1 Gene

GeneLoc Exon Structure for
SFTPA1

Expression for SFTPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFTPA1 Gene

mRNA differential expression in normal tissues according to GTEx for SFTPA1 Gene

This gene is overexpressed in Lung (x52.6).

Protein differential expression in normal tissues from HIPED for SFTPA1 Gene

This gene is overexpressed in Lung (61.2) and Lavage (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SFTPA1 Gene



Protein tissue co-expression partners for SFTPA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFTPA1

SOURCE GeneReport for Unigene cluster for SFTPA1 Gene:

Hs.535295

Evidence on tissue expression from TISSUES for SFTPA1 Gene

  • Lung(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SFTPA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SFTPA1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for SFTPA1 Gene

Orthologs for SFTPA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SFTPA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SFTPA1 29 30
  • 99.24 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SFTPA1 29 30
  • 81.92 (n)
ManyToMany
Dog
(Canis familiaris)
Mammalia LOC610540 29
  • 80.73 (n)
-- 30
  • 57 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Sftpa1 29
  • 77.51 (n)
Mouse
(Mus musculus)
Mammalia Sftpa1 29 16 30
  • 77.15 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 65 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 61 (a)
OneToMany
Chicken
(Gallus gallus)
Aves LL 29 30
  • 52.3 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 50 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii hbl4 30
  • 31 (a)
ManyToMany
hbl2 30
  • 30 (a)
ManyToMany
hbl1 30
  • 29 (a)
ManyToMany
hbl3 30
  • 28 (a)
ManyToMany
CR847898.1 30
  • 21 (a)
ManyToMany
Species where no ortholog for SFTPA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SFTPA1 Gene

ENSEMBL:
Gene Tree for SFTPA1 (if available)
TreeFam:
Gene Tree for SFTPA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFTPA1: view image
Alliance of Genome Resources:
Additional Orthologs for SFTPA1

Paralogs for SFTPA1 Gene

Paralogs for SFTPA1 Gene

(6) SIMAP similar genes for SFTPA1 Gene using alignment to 4 proteins:

  • SFTA1_HUMAN
  • B4DNW5_HUMAN
  • J3KPA7_HUMAN
  • K4N2H0_HUMAN
genes like me logo Genes that share paralogs with SFTPA1: view

Variants for SFTPA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SFTPA1 Gene

SFTA1_HUMAN-Q8IWL2
At least 5 allelic variants of SFTPA1 are known: 6A, 6A(2), 6A(3), 6A(4) and 6A(5). The sequence shown is that of allele 6A(3).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFTPA1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
936075 Uncertain Significance: not provided 79,614,091(+) G/A
NM_005411.5(SFTPA1):c.725G>A (p.Arg242Gln)
MISSENSE
rs10351 Benign: not provided 79,614,014(+) C/T
NM_005411.5(SFTPA1):c.648C>T (p.Pro216=)
SYNONYMOUS
rs1057518534 Uncertain Significance: not specified 79,611,916(+) G/C
NM_005411.5(SFTPA1):c.91G>C (p.Gly31Arg)
MISSENSE_VARIANT,INTRON
rs1059047 Benign/Likely Benign: not specified; not provided 79,611,881(+) T/Cp.Val19Ala
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala)
MISSENSE
rs1059056 Benign/Likely Benign: not specified; not provided 79,613,238(+) T/C
NM_005411.5(SFTPA1):c.342T>C (p.Phe114=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SFTPA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SFTPA1 Gene

Variant ID Type Subtype PubMed ID
dgv152e214 CNV gain 21293372
esv3623916 CNV loss 21293372
esv3891865 CNV loss 25118596
nsv1159751 OTHER complex 26073780
nsv436110 CNV deletion 17901297
nsv8694 CNV gain 18304495
nsv948084 CNV duplication 23825009
nsv948091 CNV duplication 23825009

Variation tolerance for SFTPA1 Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.65; 72.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFTPA1 Gene

Human Gene Mutation Database (HGMD)
SFTPA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFTPA1
Leiden Open Variation Database (LOVD)
SFTPA1

SNP Genotyping and Copy Number Assays for research

Disorders for SFTPA1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SFTPA1 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
pulmonary fibrosis
  • fibrosis of lung
pulmonary fibrosis, idiopathic
  • ipf
lung disease
  • lung diseases
idiopathic interstitial pneumonia
  • diffuse idiopathic pulmonary fibrosis
respiratory distress syndrome in premature infants
  • rds of prematurity
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SFTA1_HUMAN
  • Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]: A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Respiratory distress syndrome in premature infants (RDS) [MIM:267450]: A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'. {ECO:0000269 PubMed:10762543}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. The association between SFTPA1 alleles and respiratory distress syndrome in premature infants is dependent on a variation Ile to Thr at position 131 in SFTPB.

Additional Disease Information for SFTPA1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SFTPA1: view

No data available for Genatlas for SFTPA1 Gene

Publications for SFTPA1 Gene

  1. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. (PMID: 13680361) Selman M … Floros J (Human genetics 2003) 3 4 40 72
  2. Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. (PMID: 10762543) Rämet M … Hallman M (American journal of human genetics 2000) 3 4 40
  3. Surfactant protein A (SP-A)-mediated clearance of Staphylococcus aureus involves binding of SP-A to the staphylococcal adhesin eap and the macrophage receptors SP-A receptor 210 and scavenger receptor class A. (PMID: 21123169) Sever-Chroneos Z … Chroneos ZC (The Journal of biological chemistry 2011) 3 4
  4. Polymorphisms in the surfactant protein a gene are associated with the susceptibility to recurrent urinary tract infection in chinese women. (PMID: 20448439) Liu J … Ding G (The Tohoku journal of experimental medicine 2010) 3 40
  5. Human SP-A1 (SFTPA1) variant-specific 3' UTRs and poly(A) tail differentially affect the in vitro translation of a reporter gene. (PMID: 20693318) Silveyra P … Floros J (American journal of physiology. Lung cellular and molecular physiology 2010) 3 4

Products for SFTPA1 Gene

Sources for SFTPA1 Gene