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Aliases for SFTPA1 Gene

Aliases for SFTPA1 Gene

  • Surfactant Protein A1 2 3
  • SFTP1 3 4 6
  • 35 KDa Pulmonary Surfactant-Associated Protein 3 4
  • Alveolar Proteinosis Protein 3 4
  • Collectin-4 3 4
  • SFTPA1B 3 4
  • COLEC4 3 4
  • PSP-A 3 4
  • SP-A1 3 4
  • PSAP 3 4
  • PSPA 3 4
  • SP-A 3 4
  • Surfactant, Pulmonary-Associated Protein A1A 3
  • Surfactant, Pulmonary-Associated Protein A1B 3
  • Surfactant, Pulmonary-Associated Protein A1 2
  • Pulmonary Surfactant-Associated Protein A1 3
  • Surfactant Protein A1 Variant ABD 6A2 3
  • Surfactant Protein A1 Variant ABD 6A3 3
  • Surfactant Protein A1 Variant ABD 6A4 3
  • Surfactant Protein A1 Variant ACD 6A2 3
  • Surfactant Protein A1 Variant ACD 6A3 3
  • Surfactant Protein A1 Variant ACD 6A4 3
  • Surfactant Protein A1 Variant ABD 6A 3
  • Surfactant Protein A1 Variant ACD 6A 3
  • Surfactant Protein A1 Variant AD 6A2 3
  • Surfactant Protein A1 Variant AD 6A3 3
  • Surfactant Protein A1 Variant AD 6A4 3
  • Surfactant Protein A1 Variant AD 6A 3
  • Pulmonary-Associated Protein A1A 2
  • Surfactant Protein A1B 3
  • Surfactant 2
  • SFTPA 4
  • SPA1 3
  • SPA 3

External Ids for SFTPA1 Gene

Previous Symbols for SFTPA1 Gene

  • SFTP1

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 newborn respiratory distress syndrome and pulmonary fibrosis. Among its related pathways are Hemostasis and Hemostasis. GO annotations related to this gene include carbohydrate binding and lipid transporter activity. An important paralog of this gene is COLEC11.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFTPA1 Gene

Genomics for SFTPA1 Gene

Genomic Location for SFTPA1 Gene

Start:
79,610,890 bp from pter
End:
79,615,455 bp from pter
Size:
4,566 bases
Orientation:
Plus strand

Genomic View for SFTPA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SFTPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFTPA1 Gene

Regulatory Elements for SFTPA1 Gene

Transcription factor binding sites by QIAGEN in the SFTPA1 gene promoter:

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
    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)
    SequenceCaution:
    • Sequence=CAI16065.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SFTPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFTPA1 Gene

Proteomics data for SFTPA1 Gene at MOPED

Post-translational modifications for SFTPA1 Gene

Other Protein References for SFTPA1 Gene

No data available for DME Specific Peptides for SFTPA1 Gene

Domains for SFTPA1 Gene

Gene Families for SFTPA1 Gene

HGNC:

UniProtKB/Swiss-Prot:

SFTA1_HUMAN
Domain:
  • Contains 1 C-type lectin domain.:
    • Q8IWL2
  • Contains 1 collagen-like domain.:
    • Q8IWL2
Family:
  • Belongs to the SFTPA family.:
    • Q8IWL2
genes like me logo Genes that share domains with SFTPA1: view

Function for SFTPA1 Gene

Molecular function for SFTPA1 Gene

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
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

Gene Ontology (GO) - Molecular Function for SFTPA1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for SFTPA1 Gene COMPARTMENTS Subcellular localization image for SFTPA1 gene
Compartment Confidence
extracellular 5
cytoskeleton 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for SFTPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with SFTPA1: view

Pathways for SFTPA1 Gene

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

Pathways by source for SFTPA1 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for SFTPA1 Gene
1 BioSystems pathway for SFTPA1 Gene

Gene Ontology (GO) - Biological Process for SFTPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport TAS 2995821
GO:0007585 respiratory gaseous exchange IEA --
genes like me logo Genes that share ontologies with SFTPA1: view

Compounds for SFTPA1 Gene

(1) HMDB Compounds for SFTPA1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for SFTPA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-(N-Morpholino)-Ethanesulfonic Acid
target
genes like me logo Genes that share compounds with SFTPA1: view

Transcripts for SFTPA1 Gene

mRNA/cDNA for SFTPA1 Gene

(8) REFSEQ mRNAs :
(27) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SFTPA1 Gene

Surfactant protein A1:
Representative Sequences:

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

No ASD Table

Relevant External Links for SFTPA1 Gene

GeneLoc Exon Structure for
SFTPA1
ECgene alternative splicing isoforms for
SFTPA1

Expression for SFTPA1 Gene

mRNA expression in normal human tissues for SFTPA1 Gene

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

This gene is overexpressed in Lung (52.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SFTPA1 Gene

SOURCE GeneReport for Unigene cluster for SFTPA1 Gene Hs.535295

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

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 36
  • 99.24 (n)
  • 99.24 (a)
SFTPA1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SFTPA1 36
  • 81.92 (n)
  • 77.12 (a)
SFTPA1 37
  • 23 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 57 (a)
OneToMany
LOC610540 36
  • 80.73 (n)
  • 75 (a)
mouse
(Mus musculus)
Mammalia Sftpa1 36
  • 77.15 (n)
  • 71.37 (a)
Sftpa1 37
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sftpa1 36
  • 77.51 (n)
  • 71.08 (a)
chicken
(Gallus gallus)
Aves LL 36
  • 52.3 (n)
  • 44.31 (a)
LL 37
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CR847898.1 37
  • 21 (a)
ManyToMany
hbl1 37
  • 29 (a)
ManyToMany
hbl2 37
  • 30 (a)
ManyToMany
hbl3 37
  • 28 (a)
ManyToMany
hbl4 37
  • 31 (a)
ManyToMany
Species with no ortholog for SFTPA1:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SFTPA1 Gene

Paralogs for SFTPA1 Gene

Selected SIMAP similar genes for SFTPA1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SFTPA1 Gene

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

Variants for SFTPA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SFTPA1 Gene

Q8IWL2-SFTA1_HUMAN
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 from dbSNP and Humsavar for SFTPA1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs10351 -- 79,614,014(+) GAGCC(C/T)GCAGG reference, synonymous-codon
rs11234 -- 79,614,174(+) TGAGG(A/C)TCCAC utr-variant-3-prime
rs1059047 - 79,611,881(+) TGCTG(C/T)GTGCG missense, reference
rs1059049 -- 79,612,336(-) ATGGC(A/G)TTTCT missense, reference, intron-variant
rs1059050 -- 79,612,337(+) GAAAT(A/G)CCATG missense, reference, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv436110 CNV Deletion 17901297
essv24085 CNV CNV 17122850
nsv8694 CNV Gain 18304495
dgv771n71 CNV Loss 21882294
dgv772n71 CNV Gain 21882294
nsv895749 CNV Gain 21882294

Relevant External Links for SFTPA1 Gene

HapMap Linkage Disequilibrium report
SFTPA1
Human Gene Mutation Database (HGMD)
SFTPA1

Disorders for SFTPA1 Gene

(1) OMIM Diseases for SFTPA1 Gene (178630)

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 variations 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 variations 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.

(1) University of Copenhagen DISEASES for SFTPA1 Gene

Relevant External Links for SFTPA1

Genetic Association Database (GAD)
SFTPA1
Human Genome Epidemiology (HuGE) Navigator
SFTPA1
genes like me logo Genes that share disorders with SFTPA1: view

Publications for SFTPA1 Gene

  1. Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. (PMID: 10762543) Raemet M. … Hallman M. (Am. J. Hum. Genet. 2000) 3 4 49
  2. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. (PMID: 13680361) Selman M. … Floros J. (Hum. Genet. 2003) 3 4 49
  3. Association of polymorphisms in the collagen region of SP-A2 with increased levels of total IgE antibodies and eosinophilia in patients with allergic bronchopulmonary aspergillosis. (PMID: 12743564) Saxena S. … Sarma P.U. (J. Allergy Clin. Immunol. 2003) 3 49
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Polymorphisms of surfactant protein A genes and the risk of bronchopulmonary dysplasia in preterm infants. (PMID: 11105614) Weber B. … Gortner L. (Turk. J. Pediatr. 2000) 3 49

Products for SFTPA1 Gene

Sources for SFTPA1 Gene

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