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Q8IWL1

- SFPA2_HUMAN

UniProt

Q8IWL1 - SFPA2_HUMAN

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Protein
Pulmonary surfactant-associated protein A2
Gene
SFTPA2, COLEC5, PSAP, SFTP1, SFTPA, SFTPA2B
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2020
Add
BLAST
Chaini21 – 248228Pulmonary surfactant-associated protein A2
PRO_0000017458Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini28 – 10073Collagen-like
Add
BLAST
Domaini132 – 248117C-type lectin
Add
BLAST

Sequence similaritiesi

Belongs to the SFTPA family.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti247 – 2471E → D in AAA60319. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 114 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

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