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Q8IWL1

- SFPA2_HUMAN

UniProt

Q8IWL1 - SFPA2_HUMAN

Protein

Pulmonary surfactant-associated protein A2

Gene

SFTPA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. carbohydrate binding Source: InterPro

    GO - Biological processi

    1. respiratory gaseous exchange Source: UniProtKB-KW

    Keywords - Biological processi

    Gaseous exchange

    Keywords - Ligandi

    Calcium, Lectin

    Enzyme and pathway databases

    ReactomeiREACT_23916. Signal regulatory protein (SIRP) family interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pulmonary surfactant-associated protein A2
    Short name:
    PSP-A
    Short name:
    PSPA
    Short name:
    SP-A
    Short name:
    SP-A2
    Alternative name(s):
    35 kDa pulmonary surfactant-associated protein
    Alveolar proteinosis protein
    Collectin-5
    Gene namesi
    Name:SFTPA2
    Synonyms:COLEC5, PSAP, SFTP1, SFTPA, SFTPA2B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:10799. SFTPA2.

    Subcellular locationi

    GO - Cellular componenti

    1. collagen trimer Source: UniProtKB-KW
    2. extracellular region Source: Reactome
    3. extracellular space Source: UniProtKB-SubCell
    4. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted, Surface film

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti198 – 1981F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication
    VAR_063519
    Natural varianti231 – 2311G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication
    VAR_063520

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi178500. phenotype.
    Orphaneti2032. Idiopathic pulmonary fibrosis.
    PharmGKBiPA35711.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Add
    BLAST
    Chaini21 – 248228Pulmonary surfactant-associated protein A2PRO_0000017458Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei21 – 211N-acetylglutamate; partial1 Publication
    Disulfide bondi26 – 26Interchain1 Publication
    Modified residuei30 – 3014-hydroxyprolineBy similarity
    Modified residuei33 – 3314-hydroxyprolineBy similarity
    Modified residuei36 – 3614-hydroxyprolineBy similarity
    Modified residuei42 – 4214-hydroxyprolineBy similarity
    Modified residuei54 – 5414-hydroxyprolineBy similarity
    Modified residuei57 – 5714-hydroxyprolineBy similarity
    Modified residuei63 – 6314-hydroxyprolineBy similarity
    Modified residuei67 – 6714-hydroxyprolineBy similarity
    Modified residuei70 – 7014-hydroxyprolineBy similarity
    Disulfide bondi155 ↔ 2461 PublicationPROSITE-ProRule annotation
    Glycosylationi207 – 2071N-linked (GlcNAc...)Curated
    Disulfide bondi224 ↔ 2381 PublicationPROSITE-ProRule annotation

    Keywords - PTMi

    Acetylation, Disulfide bond, Glycoprotein, Hydroxylation

    Proteomic databases

    PaxDbiQ8IWL1.
    PRIDEiQ8IWL1.

    PTM databases

    PhosphoSiteiQ8IWL1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IWL1.
    BgeeiQ8IWL1.
    CleanExiHS_PSAP.
    HS_SFTPA2B.
    GenevestigatoriQ8IWL1.

    Organism-specific databases

    HPAiCAB002439.
    HPA042638.
    HPA045752.
    HPA049368.

    Interactioni

    Subunit structurei

    Oligomeric complex of 6 set of homotrimers.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000361400.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IWL1.
    SMRiQ8IWL1. Positions 104-248.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini28 – 10073Collagen-likeAdd
    BLAST
    Domaini132 – 248117C-type lectinPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SFTPA family.Curated
    Contains 1 C-type lectin domain.PROSITE-ProRule annotation
    Contains 1 collagen-like domain.Curated

    Keywords - Domaini

    Collagen, Signal

    Phylogenomic databases

    eggNOGiNOG315755.
    HOVERGENiHBG108270.
    InParanoidiQ8IWL1.
    KOiK10067.
    OrthoDBiEOG7HXCVB.
    PhylomeDBiQ8IWL1.
    TreeFamiTF330481.

    Family and domain databases

    Gene3Di3.10.100.10. 1 hit.
    InterProiIPR001304. C-type_lectin.
    IPR016186. C-type_lectin-like.
    IPR018378. C-type_lectin_CS.
    IPR016187. C-type_lectin_fold.
    IPR008160. Collagen.
    [Graphical view]
    PfamiPF01391. Collagen. 1 hit.
    PF00059. Lectin_C. 1 hit.
    [Graphical view]
    SMARTiSM00034. CLECT. 1 hit.
    [Graphical view]
    SUPFAMiSSF56436. SSF56436. 1 hit.
    PROSITEiPS00615. C_TYPE_LECTIN_1. 1 hit.
    PS50041. C_TYPE_LECTIN_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q8IWL1-1 [UniParc]FASTAAdd to Basket

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    MWLCPLALNL ILMAASGAAC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGV    50
    KGDPGPPGPM GPPGETPCPP GNNGLPGAPG VPGERGEKGE AGERGPPGLP 100
    AHLDEELQAT LHDFRHQILQ TRGALSLQGS IMTVGEKVFS SNGQSITFDA 150
    IQEACARAGG RIAVPRNPEE NEAIASFVKK YNTYAYVGLT EGPSPGDFRY 200
    SDGTPVNYTN WYRGEPAGRG KEQCVEMYTD GQWNDRNCLY SRLTICEF 248
    Length:248
    Mass (Da):26,182
    Last modified:March 1, 2003 - v1
    Checksum:i3949613C32CA0078
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti247 – 2471E → D in AAA60319. (PubMed:1372511)Curated

    Polymorphismi

    At least 6 alleles of SFTPA2 are known: 1A, 1A0, 1A1, 1A2, 1A3 and 1A4. The sequence shown is that of allele 1A0.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91N → T in allele 1A, allele 1A(1), allele 1A(2) and allele 1A(4). 6 Publications
    Corresponds to variant rs1059046 [ dbSNP | Ensembl ].
    VAR_021293
    Natural varianti12 – 121L → W.1 Publication
    VAR_063518
    Natural varianti50 – 501V → L.2 Publications
    Corresponds to variant rs192907309 [ dbSNP | Ensembl ].
    VAR_021294
    Natural varianti91 – 911A → P in allele 1A. 3 Publications
    Corresponds to variant rs17886395 [ dbSNP | Ensembl ].
    VAR_021295
    Natural varianti198 – 1981F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication
    VAR_063519
    Natural varianti223 – 2231Q → K in allele 1A(1), allele 1A(3) and allele 1A(4). 4 Publications
    Corresponds to variant rs1965708 [ dbSNP | Ensembl ].
    VAR_021296
    Natural varianti231 – 2311G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication
    VAR_063520

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    K03475 mRNA. Translation: AAA36520.1.
    M68519 Genomic DNA. Translation: AAA60319.1.
    HQ021421 mRNA. Translation: ADO27664.1.
    HQ021422 mRNA. Translation: ADO27665.1.
    HQ021423 mRNA. Translation: ADO27666.1.
    HQ021424 mRNA. Translation: ADO27667.1.
    HQ021427 mRNA. Translation: ADO27670.1.
    HQ021428 mRNA. Translation: ADO27671.1.
    HQ021429 mRNA. Translation: ADO27672.1.
    HQ021430 mRNA. Translation: ADO27673.1.
    AY206682 Genomic DNA. Translation: AAO13490.1.
    BX248123 Genomic DNA. Translation: CAI16061.1.
    BX248123 Genomic DNA. Translation: CAI16062.1.
    BC111571 mRNA. Translation: AAI11572.1.
    BC139727 mRNA. Translation: AAI39728.1.
    BC157866 mRNA. Translation: AAI57867.1.
    BC157890 mRNA. Translation: AAI57891.1.
    CCDSiCCDS41540.1.
    PIRiB25720. LNHUP1.
    I51921.
    RefSeqiNP_001092138.1. NM_001098668.2.
    XP_005270188.1. XM_005270131.2.
    XP_005270189.1. XM_005270132.2.
    UniGeneiHs.523084.

    Genome annotation databases

    EnsembliENST00000372325; ENSP00000361400; ENSG00000185303.
    ENST00000372327; ENSP00000361402; ENSG00000185303.
    GeneIDi729238.
    KEGGihsa:729238.
    UCSCiuc001kal.4. human.

    Polymorphism databases

    DMDMi60416439.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    K03475 mRNA. Translation: AAA36520.1 .
    M68519 Genomic DNA. Translation: AAA60319.1 .
    HQ021421 mRNA. Translation: ADO27664.1 .
    HQ021422 mRNA. Translation: ADO27665.1 .
    HQ021423 mRNA. Translation: ADO27666.1 .
    HQ021424 mRNA. Translation: ADO27667.1 .
    HQ021427 mRNA. Translation: ADO27670.1 .
    HQ021428 mRNA. Translation: ADO27671.1 .
    HQ021429 mRNA. Translation: ADO27672.1 .
    HQ021430 mRNA. Translation: ADO27673.1 .
    AY206682 Genomic DNA. Translation: AAO13490.1 .
    BX248123 Genomic DNA. Translation: CAI16061.1 .
    BX248123 Genomic DNA. Translation: CAI16062.1 .
    BC111571 mRNA. Translation: AAI11572.1 .
    BC139727 mRNA. Translation: AAI39728.1 .
    BC157866 mRNA. Translation: AAI57867.1 .
    BC157890 mRNA. Translation: AAI57891.1 .
    CCDSi CCDS41540.1.
    PIRi B25720. LNHUP1.
    I51921.
    RefSeqi NP_001092138.1. NM_001098668.2.
    XP_005270188.1. XM_005270131.2.
    XP_005270189.1. XM_005270132.2.
    UniGenei Hs.523084.

    3D structure databases

    ProteinModelPortali Q8IWL1.
    SMRi Q8IWL1. Positions 104-248.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000361400.

    PTM databases

    PhosphoSitei Q8IWL1.

    Polymorphism databases

    DMDMi 60416439.

    Proteomic databases

    PaxDbi Q8IWL1.
    PRIDEi Q8IWL1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372325 ; ENSP00000361400 ; ENSG00000185303 .
    ENST00000372327 ; ENSP00000361402 ; ENSG00000185303 .
    GeneIDi 729238.
    KEGGi hsa:729238.
    UCSCi uc001kal.4. human.

    Organism-specific databases

    CTDi 729238.
    GeneCardsi GC10M081305.
    HGNCi HGNC:10799. SFTPA2.
    HPAi CAB002439.
    HPA042638.
    HPA045752.
    HPA049368.
    MIMi 178500. phenotype.
    178642. gene.
    neXtProti NX_Q8IWL1.
    Orphaneti 2032. Idiopathic pulmonary fibrosis.
    PharmGKBi PA35711.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315755.
    HOVERGENi HBG108270.
    InParanoidi Q8IWL1.
    KOi K10067.
    OrthoDBi EOG7HXCVB.
    PhylomeDBi Q8IWL1.
    TreeFami TF330481.

    Enzyme and pathway databases

    Reactomei REACT_23916. Signal regulatory protein (SIRP) family interactions.

    Miscellaneous databases

    ChiTaRSi SFTPA2. human.
    GeneWikii SFTPA2.
    GenomeRNAii 729238.
    NextBioi 129641.
    PROi Q8IWL1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IWL1.
    Bgeei Q8IWL1.
    CleanExi HS_PSAP.
    HS_SFTPA2B.
    Genevestigatori Q8IWL1.

    Family and domain databases

    Gene3Di 3.10.100.10. 1 hit.
    InterProi IPR001304. C-type_lectin.
    IPR016186. C-type_lectin-like.
    IPR018378. C-type_lectin_CS.
    IPR016187. C-type_lectin_fold.
    IPR008160. Collagen.
    [Graphical view ]
    Pfami PF01391. Collagen. 1 hit.
    PF00059. Lectin_C. 1 hit.
    [Graphical view ]
    SMARTi SM00034. CLECT. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56436. SSF56436. 1 hit.
    PROSITEi PS00615. C_TYPE_LECTIN_1. 1 hit.
    PS50041. C_TYPE_LECTIN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of cDNA clones for the 35-kDa pulmonary surfactant-associated protein."
      Floros J., Steinbrink R., Jacobs K., Phelps D., Kriz R., Recny M., Sultzman L., Jones S., Taeusch H.W., Frank H.A., Fritsch E.F.
      J. Biol. Chem. 261:9029-9033(1986) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ACETYLATION AT GLU-21, VARIANTS THR-9 AND PRO-91.
    2. "Characterization of a second human pulmonary surfactant-associated protein SP-A gene."
      Katyal S.L., Singh G., Locker J.L.
      Am. J. Respir. Cell Mol. Biol. 6:446-452(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Human SP-A1 (SFTPA1) variant-specific 3' UTRs and poly(A) tail differentially affect the in vitro translation of a reporter gene."
      Silveyra P., Wang G., Floros J.
      Am. J. Physiol. 299:L523-L534(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-9 AND LYS-223.
    4. SeattleSNPs variation discovery resource
      Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-9; LEU-50; PRO-91 AND LYS-223.
    5. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-9.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-9 AND LYS-223.
    7. "Studies of the structure of lung surfactant protein SP-A."
      Haagsman H.P., White R.T., Schilling J., Lau K., Benson B.J., Golden J., Hawgood S., Clements J.A.
      Am. J. Physiol. 257:L421-L429(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISULFIDE BONDS.
    8. "Genetics of the hydrophilic surfactant proteins A and D."
      Floros J., Hoover R.R.
      Biochim. Biophys. Acta 1408:312-322(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: DEFINITION OF SFTPA2 ALLELES.
    9. "Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer."
      Wang Y., Kuan P.J., Xing C., Cronkhite J.T., Torres F., Rosenblatt R.L., DiMaio J.M., Kinch L.N., Grishin N.V., Garcia C.K.
      Am. J. Hum. Genet. 84:52-59(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS THR-9; TRP-12; LEU-50; PRO-91 AND LYS-223, VARIANTS IPF SER-198 AND VAL-231.

    Entry informationi

    Entry nameiSFPA2_HUMAN
    AccessioniPrimary (citable) accession number: Q8IWL1
    Secondary accession number(s): A4QPA7
    , B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1988
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 115 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    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).

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3