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Aliases for SFTPA1 Gene

Aliases for SFTPA1 Gene

  • Surfactant Protein A1 2 3 5
  • 35 KDa Pulmonary Surfactant-Associated Protein 3 4
  • Surfactant, Pulmonary-Associated Protein A1A 2 3
  • Alveolar Proteinosis Protein 3 4
  • Collectin-4 3 4
  • SFTPA1B 3 4
  • COLEC4 3 4
  • SFTP1 3 4
  • PSP-A 3 4
  • SP-A1 3 4
  • PSAP 3 4
  • PSPA 3 4
  • SP-A 3 4
  • 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
  • Surfactant Protein A1B 3
  • SP-A1 Epsilon 3
  • SP-A1 Delta 3
  • SP-A1 Gamma 3
  • SP-A1 Beta 3
  • 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
  • GC10P080086
  • GC10P080109
  • GC10P080134

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, Idiopathic and Pulmonary Fibrosis, Idiopathic Susceptibility. Among its related pathways are Bacterial infections in CF airways and Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4). GO annotations related to this gene include carbohydrate binding and lipid transporter activity. An important paralog of this gene is SFTPA2.

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. 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 , fRNAdb sequence ontologies and piRNA Summary for SFTPA1 Gene

Genomics for SFTPA1 Gene

Regulatory Elements for SFTPA1 Gene


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

Genomic Location for SFTPA1 Gene

Chromosome:
10
Start:
79,610,939 bp from pter
End:
79,615,455 bp from pter
Size:
4,517 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 (PubMed:17158455). Binds to the S.aureus extracellular adherence protein, Eap, thereby enhancing phagocytosis and killing of S.aureus by alveolar macrophages (PubMed:21123169).
    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

Post-translational modifications for SFTPA1 Gene

Antibody Products

  • 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

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

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. 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).

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

Animal Models for SFTPA1 Gene

MGI Knock Outs for SFTPA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 4
cytoskeleton 1
nucleus 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 --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with SFTPA1: view

Pathways & Interactions for SFTPA1 Gene

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

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 0
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SFTPA1 Gene



Protein tissue co-expression partners for SFTPA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SFTPA1 Gene:

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
Organs:
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

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 34 35
  • 99.24 (n)
cow
(Bos Taurus)
Mammalia SFTPA1 34 35
  • 81.92 (n)
dog
(Canis familiaris)
Mammalia LOC610540 34
  • 80.73 (n)
-- 35
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sftpa1 34
  • 77.51 (n)
mouse
(Mus musculus)
Mammalia Sftpa1 34 16 35
  • 77.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves LL 35 34
  • 52.3 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii hbl4 35
  • 31 (a)
ManyToMany
hbl2 35
  • 30 (a)
ManyToMany
hbl1 35
  • 29 (a)
ManyToMany
hbl3 35
  • 28 (a)
ManyToMany
CR847898.1 35
  • 21 (a)
ManyToMany
Species where no ortholog for SFTPA1 was found in the sources mined by GeneCards:
  • 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

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

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 from dbSNP and Humsavar for SFTPA1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1059047 Likely benign 79,611,881(+) TGCTG(C/T)GTGCG reference, missense
rs139899873 Likely benign 79,611,851(+) CCTCA(A/C)CCTCA reference, missense
rs150214547 Likely benign 79,613,996(+) ACCAA(C/G)TGGTA reference, missense
rs1057518534 Uncertain significance 79,611,916(+) GCCCT(C/G)GTATC intron-variant, reference, missense
rs139806726 Uncertain significance 79,613,943(+) AGGGT(C/T)CCAGC reference, missense

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)

Relevant External Links for SFTPA1 Gene

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

Disorders for SFTPA1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SFTPA1 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
pulmonary fibrosis, idiopathic susceptibility
acute interstitial pneumonia
  • accelerated interstitial pneumonia
lung sarcoma
  • pulmonary sarcoma
pulmonary fibrosis
  • fibrosis of lung
- 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 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.

Relevant External Links for SFTPA1

Genetic Association Database (GAD)
SFTPA1
Human Genome Epidemiology (HuGE) Navigator
SFTPA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFTPA1
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. (Hum. Genet. 2003) 3 4 46 64
  2. 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 46 64
  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 Z.C. (J. Biol. Chem. 2011) 3 4 64
  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. (Tohoku J. Exp. Med. 2010) 3 46 64
  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. (Am. J. Physiol. 2010) 3 4 64

Products for SFTPA1 Gene

Sources for SFTPA1 Gene

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