Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8IWL1 (SFPA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SFTPA2
Synonyms:COLEC5, PSAP, SFTP1, SFTPA, SFTPA2B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length248 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

Oligomeric complex of 6 set of homotrimers.

Subcellular location

Secretedextracellular spaceextracellular matrix. Secretedextracellular spacesurface film.

Polymorphism

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

Involvement in disease

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. Ref.9

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 similarities

Belongs to the SFTPA family.

Contains 1 C-type lectin domain.

Contains 1 collagen-like domain.

Ontologies

Keywords
   Biological processGaseous exchange
   Cellular componentExtracellular matrix
Secreted
Surface film
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainCollagen
Signal
   LigandCalcium
Lectin
   PTMAcetylation
Disulfide bond
Glycoprotein
Hydroxylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processrespiratory gaseous exchange

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcollagen trimer

Inferred from electronic annotation. Source: UniProtKB-KW

extracellular region

Traceable author statement. Source: Reactome

extracellular space

Inferred from electronic annotation. Source: UniProtKB-SubCell

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncarbohydrate binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020
Chain21 – 248228Pulmonary surfactant-associated protein A2
PRO_0000017458

Regions

Domain28 – 10073Collagen-like
Domain132 – 248117C-type lectin

Amino acid modifications

Modified residue211N-acetylglutamate; partial Ref.1
Modified residue3014-hydroxyproline By similarity
Modified residue3314-hydroxyproline By similarity
Modified residue3614-hydroxyproline By similarity
Modified residue4214-hydroxyproline By similarity
Modified residue5414-hydroxyproline By similarity
Modified residue5714-hydroxyproline By similarity
Modified residue6314-hydroxyproline By similarity
Modified residue6714-hydroxyproline By similarity
Modified residue7014-hydroxyproline By similarity
Glycosylation2071N-linked (GlcNAc...) Probable
Disulfide bond26Interchain Probable
Disulfide bond155 ↔ 246 Ref.7
Disulfide bond224 ↔ 238 Ref.7

Natural variations

Natural variant91N → T in allele 1A, allele 1A(1), allele 1A(2) and allele 1A(4). Ref.1 Ref.3 Ref.4 Ref.5 Ref.6 Ref.9
Corresponds to variant rs1059046 [ dbSNP | Ensembl ].
VAR_021293
Natural variant121L → W. Ref.9
VAR_063518
Natural variant501V → L. Ref.4 Ref.9
Corresponds to variant rs192907309 [ dbSNP | Ensembl ].
VAR_021294
Natural variant911A → P in allele 1A. Ref.1 Ref.4 Ref.9
Corresponds to variant rs17886395 [ dbSNP | Ensembl ].
VAR_021295
Natural variant1981F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. Ref.9
VAR_063519
Natural variant2231Q → K in allele 1A(1), allele 1A(3) and allele 1A(4). Ref.3 Ref.4 Ref.6 Ref.9
Corresponds to variant rs1965708 [ dbSNP | Ensembl ].
VAR_021296
Natural variant2311G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. Ref.9
VAR_063520

Experimental info

Sequence conflict2471E → D in AAA60319. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8IWL1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 3949613C32CA0078

FASTA24826,182
        10         20         30         40         50         60 
MWLCPLALNL ILMAASGAAC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGV KGDPGPPGPM 

        70         80         90        100        110        120 
GPPGETPCPP GNNGLPGAPG VPGERGEKGE AGERGPPGLP AHLDEELQAT LHDFRHQILQ 

       130        140        150        160        170        180 
TRGALSLQGS IMTVGEKVFS SNGQSITFDA IQEACARAGG RIAVPRNPEE NEAIASFVKK 

       190        200        210        220        230        240 
YNTYAYVGLT EGPSPGDFRY SDGTPVNYTN WYRGEPAGRG KEQCVEMYTD GQWNDRNCLY 


SRLTICEF 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41540.1.
PIRLNHUP1. B25720.
I51921.
RefSeqNP_001092138.1. NM_001098668.2.
XP_005270188.1. XM_005270131.2.
XP_005270189.1. XM_005270132.2.
UniGeneHs.523084.

3D structure databases

ProteinModelPortalQ8IWL1.
SMRQ8IWL1. Positions 104-248.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000361400.

PTM databases

PhosphoSiteQ8IWL1.

Polymorphism databases

DMDM60416439.

Proteomic databases

PaxDbQ8IWL1.
PRIDEQ8IWL1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372325; ENSP00000361400; ENSG00000185303.
ENST00000372327; ENSP00000361402; ENSG00000185303.
GeneID729238.
KEGGhsa:729238.
UCSCuc001kal.4. human.

Organism-specific databases

CTD729238.
GeneCardsGC10M081305.
HGNCHGNC:10799. SFTPA2.
HPACAB002439.
HPA042638.
HPA045752.
HPA049368.
MIM178500. phenotype.
178642. gene.
neXtProtNX_Q8IWL1.
Orphanet2032. Idiopathic pulmonary fibrosis.
PharmGKBPA35711.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315755.
HOVERGENHBG108270.
InParanoidQ8IWL1.
KOK10067.
OrthoDBEOG7HXCVB.
PhylomeDBQ8IWL1.
TreeFamTF330481.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

ArrayExpressQ8IWL1.
BgeeQ8IWL1.
CleanExHS_PSAP.
HS_SFTPA2B.
GenevestigatorQ8IWL1.

Family and domain databases

Gene3D3.10.100.10. 1 hit.
InterProIPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR018378. C-type_lectin_CS.
IPR016187. C-type_lectin_fold.
IPR008160. Collagen.
[Graphical view]
PfamPF01391. Collagen. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTSM00034. CLECT. 1 hit.
[Graphical view]
SUPFAMSSF56436. SSF56436. 1 hit.
PROSITEPS00615. C_TYPE_LECTIN_1. 1 hit.
PS50041. C_TYPE_LECTIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSFTPA2. human.
GeneWikiSFTPA2.
GenomeRNAi729238.
NextBio129641.
PROQ8IWL1.
SOURCESearch...

Entry information

Entry nameSFPA2_HUMAN
AccessionPrimary (citable) accession number: Q8IWL1
Secondary accession number(s): A4QPA7 expand/collapse secondary AC list , B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM