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

SFTPA1 Gene

protein-coding   GIFtS: 60
GCID: GC10P081372

surfactant protein A1

(Previous names: surfactant, pulmonary-associated protein A1 )
(Previous symbol: SFTP1)
 Explore 42 diseases affiliated with
SFTPA1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for SFTPA1    

Aliases
for SFTPA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Surfactant Protein A11 2     Surfactant Protein A1 Variant AB'D' 6A22
SFTP11 2 3 5     Surfactant Protein A1 Variant AB'D' 6A32
COLEC41 2 3     Surfactant Protein A1 Variant AB'D' 6A42
SP-A1 2 3     Surfactant Protein A1 Variant ACD' 6A2
SP-A11 2 3     Surfactant Protein A1 Variant ACD' 6A22
Alveolar Proteinosis Protein2 3     Surfactant Protein A1 Variant ACD' 6A32
35 KDa Pulmonary Surfactant-Associated Protein2 3     Surfactant Protein A1 Variant ACD' 6A42
PSAP2 3     Surfactant Protein A1 Variant AD' 6A2
PSP-A2 3     Surfactant Protein A1 Variant AD' 6A22
PSPA2 3     Surfactant Protein A1 Variant AD' 6A32
SFTPA1B2 3     Surfactant Protein A1 Variant AD' 6A42
Surfactant, Pulmonary-Associated Protein A11     Surfactant Protein A1B2
SPA2     Surfactant, Pulmonary-Associated Protein A1A2
SPA12     Surfactant, Pulmonary-Associated Protein A1B2
Collectin-43     Collectin-43
Pulmonary Surfactant-Associated Protein A12     SFTPA3
Surfactant Protein A1 Variant AB'D' 6A2     

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


Summaries
for SFTPA1 gene

(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:
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)

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




Genomic Views
for SFTPA1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFTPA1 gene promoter:
         AP-1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SFTPA1 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 GC10P081372:  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

Proteins
for SFTPA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 P07714 Q14DV4 Q5RIR5 Q5RIR7 Q6PIT0
Q8TC19

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IWL2

    • SFTPA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000378070   ENSP00000395527   ENSP00000401649   ENSP00000361382  
     ENSP00000381633   ENSP00000411102   ENSP00000361387  
    Reactome Protein details: Q8IWL2
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: SFTPA1
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    Novus Biologicals SFTPA1 Protein
    Novus Biologicals SFTPA1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SFTPA1

    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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    Uscn Antibodies for SFTPA1
    ThermoFisher Antibodies for SFTPA1

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    Uscn ELISAs and CLIAs for SFTPA1

    Protein Domains /
    Families
    for SFTPA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SFTPA1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: 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


    Function
    for SFTPA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    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



    Pathways & Interactions
    for SFTPA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1FOXA1 transcription factor network
    		FOXA1 transcription factor network1.00
    2Pertussis
    		Pertussis1.00
    3Phagosome
    		Phagosome1.00
    4Signal regulatory protein (SIRP) family interactions
    		Signal regulatory protein (SIRP) family interactions1.00
    5Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response
    		Immune response_TLR signaling pathways0.94

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for SFTPA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 

    Transcripts
    for SFTPA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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 Clusters for SFTPA1:

    Surfactant protein A1
    Hs.535295  [show with all ESTs], Hs.744035  [show with all ESTs]
    Unigene Representative Sequences: NM_005411, JX502764
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000419470 ENST00000394569 ENST00000429958 ENST00000439264 ENST00000486922
    ENST00000372308 ENST00000398636(uc001kap.3 uc001kaq.3 uc021puu.1 uc009xrz.3)
    ENST00000428376(uc009xry.3 uc001kar.3 uc001kao.3 uc010qlt.2)
    ENST00000372313

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    Clone
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    Primer
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    Additional cDNA sequence: 

    JX502764.1 JX502765.1 

    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.95374232  DT.100045902  DT.100811291  DT.91765537  DT.91765553  DT.121286881  DT.91765557 
    DT.92411306  DT.97832706  DT.97833274  DT.97833283  DT.121286855  DT.91765535  DT.97784300  DT.97833272 

    GeneLoc Exon Structure


    Expression
    for SFTPA1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGACAGGGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SFTPA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Lung epithelial-like cells (Derivation of lung e...)
    Type II pneumocytes (airway epithelial cells) (Derivation of lung s...)
    Alveolar type II cells (Derivation of mature...)Lung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene clusters: Hs.535295 Hs.744035
        SABiosciences Custom PCR Arrays for SFTPA1
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    In Situ
    Assay Products:     
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    Orthologs
    for SFTPA1 gene

    (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 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves LL1 lung lectin 52.3(n)
    44.31(a)    		   423630  NM_001039166.1  NP_001034255.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 53(a)
    		 1 → many
    		 GL343233.1(1635384-1641691)
    zebrafish
    (Danio rerio)    		 Actinopterygii hbl46
    hbl26
    (see all 5)    		 hexose-binding lectin 2
    (see all 5)    		 28(a)
    26(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
    for SFTPA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFTPA1 gene
    COLEC112  SFTPD2  COLEC122  MBL22  COLEC102  SCARA32  SFTPA22  
    6 SIMAP similar genes for SFTPA1 using alignment to 5 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


    Genomic Variants
    for SFTPA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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)


    10/225 NCBI SNPs in SFTPA1 are shown (see all 225)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs42535271,2
    		C,F,other75543517(+) CAGGTC/TGGGGA 12 R W mis14Minor allele frequency- T:0.09NS NA 4738
    rs42534951,2
    		C,--75363856(+) AGTGTG/ATCCTC 6 -- us2k12Minor allele frequency- A:0.01NS 80
    rs42534961,2
    		C,F,--75363932(+) CACCTT/CAATTC 6 -- us2k1 tfbs32Minor allele frequency- C:0.09NS 88
    rs42534971,2
    		C,F,--75364149(+) ttcagG/Ctcatg 6 -- us2k12Minor allele frequency- C:0.05NS 92
    rs42534991,2
    		C,F,--75364252(+) TTGCTA/GTAAAG 6 -- us2k12Minor allele frequency- G:0.04NS 94
    rs42535001,2
    		C,F,--75364311(+) TTGGAG/TTTATT 6 -- us2k1 tfbs32Minor allele frequency- T:0.02NS 94
    rs42535021,2
    		C,--75364651(+) GCCTCT/AGTTCC 6 -- us2k12Minor allele frequency- A:0.01NS 88
    rs42535921,2
    		C,--75364655(+) CTGTTC/TCTGCT 6 -- us2k12Minor allele frequency- T:0.01NS 88
    rs42535031,2
    		C,F,--75364764(+) CCTGGC/TCCAGC 6 -- us2k1 tfbs32Minor allele frequency- T:0.10NS 88
    rs42535041,2
    		C,F,--75364821(+) CCATGC/TTACAA 6 -- us2k12Minor allele frequency- T:0.04NS 90

    HapMap Linkage Disequilibrium report for SFTPA1 (81370695 - 81375199 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SFTPA1
         1 CNV: 30512
    Human Gene Mutation Database (HGMD): SFTPA1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SFTPA1
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    Disorders / Diseases
    for SFTPA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SFTPA1 for disorders           About GeneDecksing

    OMIM gene information: 178630   
    OMIM disorders: 178500  
    UniProtKB/Swiss-Prot: SFTA1_HUMAN, Q8IWL2
  • Genetic variations in SFTPA1 are a cause of susceptibility to pulmonary fibrosis idiopathic (IPF)
    • [MIM:178500]. Pulmonary fibrosis is 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
  • Genetic variations in SFTPA1 are a cause of susceptibility to respiratory distress syndrome in premature
    • infants (RDS) [MIM:267450]; also known as RDS in prematurity. RDS is 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=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

    20/42 diseases for SFTPA1 (see all 42):    About MalaCards
    idiopathic pulmonary fibrosis    pulmonary fibrosis    fibrosis    newborn respiratory distress syndrome
    allergic bronchopulmonary aspergillosis    pulmonary alveolar proteinosis    non-small cell lung carcinoma    sclerosing hemangioma
    pulmonary sclerosing hemangioma    otitis media    chronic obstructive pulmonary disease    bronchiolitis obliterans
    bronchopulmonary dysplasia    hemangioma    allergic rhinitis    aspergillosis
    pulmonary edema    insulin resistance    pneumoconiosis    rhinitis

    1 disease from the University of Copenhagen DISEASES database for SFTPA1:
    Newborn respiratory distress syndrome
    Genetic Association Database (GAD): SFTPA1
    Human Genome Epidemiology (HuGE) Navigator: SFTPA1 (28 documents)

    Export disorders for SFTPA1 gene to outside databases

    Publications
    for SFTPA1 gene

    (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 147):
    (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. 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)
    4. Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia. (PubMed id 16292672)1, 4 Malik S....Schurr E. (2006)
    5. Association of polymorphisms in pulmonary surfactant protein A1 and A2 genes with high-altitude pulmonary edema. (PubMed id 16162765)1, 4 Saxena S....Sarma P.U. (2005)
    6. Rare SP-A alleles and the SP-A1-6A(4) allele associate with risk for lung carcinoma. (PubMed id 15996209)1, 4 Seifart C....Floros J. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    9. Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia. (PubMed id 15102713)1, 4 Rova M....Hallman M. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for SFTPA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SFTPA1 gene

    (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

    Other Databases showing SFTPA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SFTPA1 gene

    (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

    Intellectual Property
    for SFTPA1 gene

    (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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