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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SFTPA1 Gene

protein-coding   GIFtS: 59
GCID: GC10P081384

Surfactant Protein A1

(Previous names: surfactant, pulmonary-associated protein A1)
(Previous symbol: SFTP1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Surfactant Protein A11 2     Surfactant Protein A1 Variant AB'D' 6A2
SFTP11 2 3 5     Surfactant Protein A1 Variant AB'D' 6A22
Alveolar Proteinosis Protein2 3     Surfactant Protein A1 Variant AB'D' 6A32
35 KDa Pulmonary Surfactant-Associated Protein2 3     Surfactant Protein A1 Variant AB'D' 6A42
COLEC42 3     Surfactant Protein A1 Variant ACD' 6A2
PSAP2 3     Surfactant Protein A1 Variant ACD' 6A22
PSP-A2 3     Surfactant Protein A1 Variant ACD' 6A32
PSPA2 3     Surfactant Protein A1 Variant ACD' 6A42
SFTPA1B2 3     Surfactant Protein A1 Variant AD' 6A2
SP-A2 3     Surfactant Protein A1 Variant AD' 6A22
SP-A12 3     Surfactant Protein A1 Variant AD' 6A32
Pulmonary-Associated Protein A1A1     Surfactant Protein A1 Variant AD' 6A42
surfactant1     Surfactant Protein A1B2
Surfactant, Pulmonary-Associated Protein A11     Surfactant, Pulmonary-Associated Protein A1A2
SPA2     Surfactant, Pulmonary-Associated Protein A1B2
SPA12     Collectin-43
collectin-42     SFTPA3
Pulmonary Surfactant-Associated Protein A12     

External Ids:    HGNC: 107981   Entrez Gene: 6535092   Ensembl: ENSG000001228527   OMIM: 1786305   UniProtKB: Q8IWL23   

Export aliases for SFTPA1 gene to outside databases

Previous GC identifers: GC10P080327 GC10P080580 GC10P081583 GC10P081035 GC10P081360 GC10P075365 GC10P081372


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 lung sarcoma, and among its related super-pathways are Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response and Immune response Bacterial infections in normal airways. GO annotations related to this gene include carbohydrate binding and lipid transporter activity. An important paralog of this gene is COLEC11.

UniProtKB/Swiss-Prot: SFTA1_HUMAN, Q8IWL2
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFTPA1 gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFTPA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SFTPA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFTPA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.3   Ensembl cytogenetic band:  10q22.3   HGNC cytogenetic band: 10q22.3

SFTPA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFTPA1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P081384:  view genomic region     (about GC identifiers)

Start:
81,370,695 bp from pter      End:
81,375,199 bp from pter
Size:
4,505 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SFTA1_HUMAN, Q8IWL2 (See protein sequence)
Recommended Name: Pulmonary surfactant-associated protein A1 precursor  
Size: 248 amino acids; 26242 Da
Subunit: Oligomeric complex of 6 set of homotrimers
Subcellular location: Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface
film
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)
Sequence caution: Sequence=CAI16065.1; Type=Erroneous gene model prediction;
Secondary accessions: A8K3T8 B7ZW50 E3VLD8 E3VLD9 E3VLE0 E3VLE1 G5E9J3 P07714 Q14DV4 Q5RIR5
Q5RIR7 Q6PIT0 Q8TC19
Alternative splicing: 2 isoforms:  Q8IWL2-1   Q8IWL2-2   

Explore the universe of human proteins at neXtProt for SFTPA1: NX_Q8IWL2

Explore proteomics data for SFTPA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWL2

  • SFTPA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SFTPA1 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001087239.2  NP_001158116.1  NP_001158117.1  NP_001158118.1  NP_001158119.1  NP_005402.3  

    ENSEMBL proteins: 
     ENSP00000397082   ENSP00000395527   ENSP00000401649   ENSP00000361382   ENSP00000381633  
     ENSP00000411102   ENSP00000361387  
    Reactome Protein details: Q8IWL2
    Human Recombinant Protein Products for SFTPA1: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005615extracellular space IEA--

    SFTPA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COLEC: Collectins

    5 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR018378 C-type_lectin_CS
     IPR016186 C-type_lectin-like
     IPR001304 C-type_lectin
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q8IWL2

    ProtoNet protein and cluster: Q8IWL2

    1 Blocks protein domain: IPB008160 Collagen triple helix repeat

    UniProtKB/Swiss-Prot: SFTA1_HUMAN, Q8IWL2
    Similarity: Belongs to the SFTPA family
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 1 collagen-like domain


    SFTPA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SFTA1_HUMAN, Q8IWL2
    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

         Genatlas biochemistry entry for SFTPA1:
    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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity TAS2995821
    GO:0030246carbohydrate binding IEA--
         
    SFTPA1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SFTPA1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response
    Immune response TLR signaling pathways0.94
    2Immune response Bacterial infections in normal airways
    Bacterial infections in CF airways0.78
    3Cell-cell junction organization
    Cell-Cell communication0.64
    4Phagosome
    Phagosome
    5Pertussis
    Pertussis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 BioSystems Pathway for SFTPA1
        FOXA1 transcription factor network

    2        Reactome Pathways for SFTPA1
        Signal regulatory protein (SIRP) family interactions
    Cell-Cell communication


    2         Kegg Pathways  (Kegg details for SFTPA1):
        Phagosome
    Pertussis


    SFTPA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SFTPA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for SFTPA1 (Q8IWL23 ENSP000003613824) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DMBT1Q9UGM33, ENSP000003579054I2D: score=2 STRING: ENSP00000357905
    MYO18AQ926143, ENSP000003462914I2D: score=1 STRING: ENSP00000346291
    C1QAP027453, ENSP000003637734I2D: score=1 STRING: ENSP00000363773
    SFTPDP352473, ENSP000003613664I2D: score=1 STRING: ENSP00000361366
    TLR2O606033, ENSP000002600104I2D: score=2 STRING: ENSP00000260010
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport TAS2995821
    GO:0007585respiratory gaseous exchange IEA--

    SFTPA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SFTPA1 (SFTA1)

    1 HMDB Compound for SFTPA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for SFTPA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(N-Morpholino)-Ethanesulfonic Acid-- --target--10592235

    Search CenterWatch for drugs/clinical trials and news about SFTPA1 / SFTA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SFTPA1 gene (6 alternative transcripts): 
    NM_001093770.2  NM_001164644.1  NM_001164645.1  NM_001164646.1  NM_001164647.1  NM_005411.4  

    Unigene Cluster for SFTPA1:

    Surfactant protein A1
    Hs.535295  [show with all ESTs]
    Unigene Representative Sequence: NM_005411
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000419470 ENST00000429958 ENST00000439264 ENST00000486922 ENST00000372308
    ENST00000398636(uc001kap.3 uc001kaq.3 uc021puu.1 uc009xrz.3)
    ENST00000428376(uc009xry.3 uc001kar.3 uc001kao.3 uc010qlt.2)
    ENST00000372313
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK290703.1 AK298002.1 AK298029.1 AK298034.1 AK298092.1 AK309518.1 AK316196.1 BC029913.2 
    BC111570.1 BC171875.1 HQ021433.2 HQ021434.1 HQ021435.1 HQ021436.1 HQ021437.1 HQ021438.1 
    HQ021439.1 HQ021440.1 HQ021441.1 HQ021442.1 JX502764.1 JX502765.1 M13686.1 S69681.1 
    S69685.1 S69686.1 S69690.1 

    24/26 DOTS entries (see all 26):

    DT.97861573  DT.100780256  DT.91765534  DT.418328  DT.97827098  DT.100811290  DT.92330441  DT.121286766 
    DT.91765555  DT.100045902  DT.100811291  DT.91765537  DT.91765553  DT.95374232  DT.121286881  DT.91765557 
    DT.92411306  DT.97832706  DT.97833274  DT.97833283  DT.121286855  DT.91765535  DT.97784300  DT.97833272 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SFTPA1 expression in normal human tissues (normalized intensities)      SFTPA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACAGGGAG
    SFTPA1 Expression
    About this image


    SFTPA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Lung (Respiratory System)    fully expand to see all 6 entries
             Type II pneumocytes (airway epithelial cells) ( Derivation of lung epithelial cells...
             lung ; pneumocytes   
             Trachea   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Thyroid (Endocrine System)    fully expand to see all 2 entries
             thyroid gland ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   

    See SFTPA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFTPA1

    SOURCE GeneReport for Unigene cluster: Hs.535295
        SABiosciences Custom PCR Arrays for SFTPA1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SFTPA1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sftpa11 surfactant associated protein A1 77.15(n)
    71.37(a)
      20387  NM_023134.4  NP_075623.2 
    chicken
    (Gallus gallus)
    Aves LL1 lung lectin 52.3(n)
    44.31(a)
      423630  NM_001039166.1  NP_001034255.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    --
    51(a)
    27(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    GL343233.1(1634950-1643878)
    GL343233.1(1551615-1575502)
    zebrafish
    (Danio rerio)
    Actinopterygii hbl46
    hbl26
    (see all 5)
    hexose-binding lectin 2
    (see all 5)
    25(a)
    24(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    2(37618223-37621667)
    2(37631017-37632321)


    ENSEMBL Gene Tree for SFTPA1 (if available)
    TreeFam Gene Tree for SFTPA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFTPA1 gene
    COLEC112  SFTPD2  COLEC102  MBL22  SFTPA22  
    6 SIMAP similar genes for SFTPA1 using alignment to 4 protein entries:     SFTA1_HUMAN (see all proteins):
    SP-2A    SP-A1    SP-A2    SFTPA2    MBL2    SFTPD

    SFTPA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SFTPA1
    PGOHUM00000238552


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: SFTA1_HUMAN, Q8IWL2
    Polymorphism: 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)


    10/290 SNPs in SFTPA1 are shown (see all 290)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs42535271,2,4
    C,Fother181746458(+) CAGGTC/TGGGGA 12 R W mis14Minor allele frequency- T:0.09NS NA 4738
    VAR_0635174
    ----see VAR_0635172 P L mis40--------
    VAR_0041844
    ----see VAR_0041842 N T mis40--------
    VAR_0122334
    ----see VAR_0122332 Q K mis40--------
    rs1471537831,2
    C--81369054(+) CATTA-/AAAAAA 6 -- us2k10--------
    rs784536981,2
    C--81371620(+) TTGATA/GGCAGC 12 I M mis10--------
    rs42535141,2
    C,F--81372232(+) ACAGCG/-ACCCT 6 -- int15Minor allele frequency- -:0.19NS NA 212
    rs2017147491,2
    --81372232(+) ACAGCA/GACCCT 6 -- int10--------
    rs26786501,2
    C,F--81372540(-) ACACCG/ATCTGT 6 -- int12Minor allele frequency- A:0.01NS 84
    rs42535171,2
    C,F--81372573(+) GGGGAG/ACTTTG 6 -- int14Minor allele frequency- A:0.44NS NA 198

    HapMap Linkage Disequilibrium report for SFTPA1 (81370695 - 81375199 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SFTPA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv436110CNV Deletion17901297
    dgv771n71CNV Loss21882294
    nsv895749CNV Gain21882294
    nsv8694CNV Gain18304495
    dgv772n71CNV Gain21882294
    essv24085CNV CNV17122850


    Human Gene Mutation Database (HGMD): SFTPA1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SFTPA1
    DNA2.0 Custom Variant and Variant Library Synthesis for SFTPA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 178630   
    OMIM disorders: 178500  
    UniProtKB/Swiss-Prot: SFTA1_HUMAN, Q8IWL2
  • 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. It results in acute lung injury with subsequent scarring and endstage 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'. Note=Disease susceptibility is
    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

  • 20/36 diseases for SFTPA1 (see all 36):    About MalaCards
    newborn respiratory distress syndrome    lung sarcoma    pulmonary fibrosis    allergic bronchopulmonary aspergillosis
    idiopathic pulmonary fibrosis    pulmonary sclerosing hemangioma    sclerosing hemangioma    aplastic anemia
    pulmonary edema    pulmonary fibrosis, familial    pneumoconiosis    aspergillosis
    pulmonary alveolar proteinosis    hemangioma    bronchopulmonary dysplasia    bronchiolitis obliterans
    otitis media    bronchiolitis    pulmonary tuberculosis    non-small cell lung carcinoma

    1 disease from the University of Copenhagen DISEASES database for SFTPA1:
    Newborn respiratory distress syndrome

    SFTPA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SFTPA1
    Human Genome Epidemiology (HuGE) Navigator: SFTPA1 (28 documents)

    Export disorders for SFTPA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SFTPA1 gene, integrated from 9 sources (see all 153):
    (articles sorted by number of sources associating them with SFTPA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. (PubMed id 13680361)1, 2, 4 Selman M.... Floros J. (2003)
    2. Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. (PubMed id 10762543)1, 2, 4 Raemet M.... Hallman M. (2000)
    3. Polymorphisms in the surfactant protein a gene are as sociated with the susceptibility to recurrent urinary tract infection in chines e women. (PubMed id 20448439)1, 4 Liu J....Ding G. (2010)
    4. Human SP-A1 (SFTPA1) variant-specific 3' UTRs and pol y(A) tail differentially affect the in vitro translation of a reporter gene. (PubMed id 20693318)1, 2 Silveyra P....Floros J. (2010)
    5. Transmission of Surfactant Protein Variants and Haplotypes in Children Hospitalized with Respiratory Syncytial Virus. (PubMed id 19287351)1, 4 Thomas N.J....Floros J. (2009)
    6. Surfactant protein A and D gene polymorphisms and protein expression in victims of sudden infant death. (PubMed id 18983439)1, 4 Stray-Pedersen A....Rognum T.O. (2009)
    7. Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome. (PubMed id 17524024)1, 4 Thomas N.J....Floros J. (2007)
    8. Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis. (PubMed id 17311505)1, 4 Vaid M....Sarma P.U. (2007)
    9. [Single nucleotide polymorphisms study of surfactant protein A gene between Tibet Sherpas and Guangdong Chinese Hans] (PubMed id 17343789)1, 4 Wang S.W....Liu K.X. (2007)
    10. Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia. (PubMed id 16292672)1, 4 Malik S....Schurr E. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 653509 HGNC: 10798 Ensembl:ENSG00000122852 euGenes: HUgn653509 ECgene: SFTPA1 Kegg: 653509
    H-InvDB: SFTPA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SFTPA1 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/sftpa1/
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_232

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SFTPA1 gene:
    Search GeneIP for patents involving SFTPA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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