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Q8IWL2 (SFTA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pulmonary surfactant-associated protein A1

Short name=PSP-A
Short name=PSPA
Short name=SP-A
Short name=SP-A1
Alternative name(s):
35 kDa pulmonary surfactant-associated protein
Alveolar proteinosis protein
Collectin-4
Gene names
Name:SFTPA1
Synonyms:COLEC4, PSAP, SFTP1, SFTPA, SFTPA1B
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 5 allelic variants of SFTPA1 are known: 6A, 6A2, 6A3, 6A4 and 6A5. The sequence shown is that of allele 6A3.

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: 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. Ref.11

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.

Sequence caution

The sequence CAI16065.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IWL2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8IWL2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRPCQVPGAATGPRAM

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020
Chain21 – 248228Pulmonary surfactant-associated protein A1
PRO_0000017457

Regions

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

Amino acid modifications

Modified residue211N-acetylglutamate; partial Ref.2
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.9
Disulfide bond224 ↔ 238 Ref.9

Natural variations

Alternative sequence11M → MRPCQVPGAATGPRAM in isoform 2.
VSP_046802
Natural variant51P → L. Ref.13
VAR_063517
Natural variant91N → T. Ref.5 Ref.13
Corresponds to variant rs1059046 [ dbSNP | Ensembl ].
VAR_004184
Natural variant191V → A in allele 6A and allele 6A(5). Ref.2 Ref.3 Ref.5 Ref.13
Corresponds to variant rs1059047 [ dbSNP | Ensembl ].
VAR_021292
Natural variant501L → V in allele 6A(2). Ref.3 Ref.5 Ref.13
Corresponds to variant rs1136450 [ dbSNP | Ensembl ].
VAR_012231
Natural variant2191R → W Associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5). Ref.3 Ref.5 Ref.12 Ref.13
Corresponds to variant rs4253527 [ dbSNP | Ensembl ].
VAR_012232
Natural variant2231Q → K.
Corresponds to variant rs1965708 [ dbSNP | Ensembl ].
VAR_012233

Experimental info

Sequence conflict451D → H in AAA36510. Ref.1
Sequence conflict541P → L in AAA36510. Ref.1
Sequence conflict1001P → R in AAA36510. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2005. Version 2.
Checksum: AFFFCF38B87BE081

FASTA24826,242
        10         20         30         40         50         60 
MWLCPLALNL ILMAASGAVC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGL KGDPGPPGPM 

        70         80         90        100        110        120 
GPPGEMPCPP GNDGLPGAPG IPGECGEKGE PGERGPPGLP 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

Isoform 2 [UniParc].

Checksum: 39F4A2E09F3F0AC3
Show »

FASTA26327,736

References

« Hide 'large scale' references
[1]"Isolation and characterization of the human pulmonary surfactant apoprotein gene."
White R.T., Damm D., Miller J., Spratt K., Schilling J., Hawgood S., Benson B., Cordell B.
Nature 317:361-363(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"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], VARIANT ALA-19, ACETYLATION AT GLU-21.
[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 ALA-19; VAL-50 AND TRP-219.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung.
[5]SeattleSNPs variation discovery resource
Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-9; ALA-19; VAL-50 AND TRP-219.
[6]"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].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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].
[9]"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.
[10]"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 SFTPA1 ALLELES.
[11]"Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population."
Raemet M., Haataja R., Marttila R., Floros J., Hallman M.
Am. J. Hum. Genet. 66:1569-1579(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RDS.
[12]"Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis."
Selman M., Lin H.-M., Montano M., Jenkins A.L., Estrada A., Lin Z., Wang G., DiAngelo S.L., Guo X., Umstead T.M., Lang C.M., Pardo A., Phelps D.S., Floros J.
Hum. Genet. 113:542-550(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT TRP-219, ASSOCIATION WITH IDIOPATHIC PULMONARY FIBROSIS.
[13]"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 LEU-5; THR-9; ALA-19; VAL-50 AND TRP-219.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M30838 Genomic DNA. Translation: AAA36510.1.
M13686 mRNA. Translation: AAA60211.1.
HQ021433 mRNA. Translation: ADO27676.1.
HQ021434 mRNA. Translation: ADO27677.1.
HQ021435 mRNA. Translation: ADO27678.1.
HQ021436 mRNA. Translation: ADO27679.1.
HQ021437 mRNA. Translation: ADO27680.1.
HQ021438 mRNA. Translation: ADO27681.1.
HQ021439 mRNA. Translation: ADO27682.1.
HQ021440 mRNA. Translation: ADO27683.1.
HQ021441 mRNA. Translation: ADO27684.1.
HQ021442 mRNA. Translation: ADO27685.1.
AK290703 mRNA. Translation: BAF83392.1.
AY198391 Genomic DNA. Translation: AAO13486.1.
BX248123 Genomic DNA. Translation: CAI16065.1. Sequence problems.
BX248123 Genomic DNA. Translation: CAI16066.1.
BX248123 Genomic DNA. Translation: CAI16067.1.
CH471083 Genomic DNA. Translation: EAW54657.1.
CH471083 Genomic DNA. Translation: EAW54651.1.
CH471083 Genomic DNA. Translation: EAW54658.1.
BC029913 mRNA. Translation: AAH29913.1.
BC111570 mRNA. Translation: AAI11571.1.
BC171875 mRNA. Translation: AAI71875.1.
PIRLNHUPS. A24622.
LNHUP6. A25720.
RefSeqNP_001087239.2. NM_001093770.2.
NP_001158116.1. NM_001164644.1.
NP_001158119.1. NM_001164647.1.
NP_005402.3. NM_005411.4.
XP_005270119.1. XM_005270062.2.
UniGeneHs.535295.
Hs.745476.

3D structure databases

ProteinModelPortalQ8IWL2.
SMRQ8IWL2. Positions 31-248.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid575839. 2 interactions.

PTM databases

PhosphoSiteQ8IWL2.

Polymorphism databases

DMDM60416440.

Proteomic databases

PaxDbQ8IWL2.
PRIDEQ8IWL2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000398636; ENSP00000381633; ENSG00000122852. [Q8IWL2-1]
ENST00000419470; ENSP00000397082; ENSG00000122852. [Q8IWL2-2]
ENST00000428376; ENSP00000411102; ENSG00000122852. [Q8IWL2-1]
ENST00000429958; ENSP00000395527; ENSG00000122852.
ENST00000439264; ENSP00000401649; ENSG00000122852.
GeneID653509.
KEGGhsa:653509.
UCSCuc001kap.3. human. [Q8IWL2-1]

Organism-specific databases

CTD653509.
GeneCardsGC10P081384.
HGNCHGNC:10798. SFTPA1.
HPACAB016793.
MIM178500. phenotype.
178630. gene.
267450. phenotype.
neXtProtNX_Q8IWL2.
Orphanet2032. Idiopathic pulmonary fibrosis.
PharmGKBPA35710.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315755.
HOVERGENHBG108270.
InParanoidQ8IWL2.
KOK10067.
OMAEMYTDGK.
OrthoDBEOG7HXCVB.
PhylomeDBQ8IWL2.
TreeFamTF330481.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

BgeeQ8IWL2.
CleanExHS_PSAP.
HS_SFTPA1B.
GenevestigatorQ8IWL2.

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

GeneWikiPulmonary_surfactant-associated_protein_A1.
GenomeRNAi653509.
NextBio123347.
PROQ8IWL2.
SOURCESearch...

Entry information

Entry nameSFTA1_HUMAN
AccessionPrimary (citable) accession number: Q8IWL2
Secondary accession number(s): A8K3T8 expand/collapse secondary AC list , B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, P07714, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8TC19
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: March 1, 2005
Last modified: April 16, 2014
This is version 120 of the entry and version 2 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