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Protein

Pulmonary surfactant-associated protein A2

Gene

SFTPA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Gaseous exchange

Keywords - Ligandi

Calcium, Lectin

Enzyme and pathway databases

ReactomeiR-HSA-166016. Toll Like Receptor 4 (TLR4) Cascade.
R-HSA-168179. Toll Like Receptor TLR1:TLR2 Cascade.
R-HSA-391160. Signal regulatory protein (SIRP) family interactions.
R-HSA-5683678. Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3).
R-HSA-5683826. Surfactant metabolism.
R-HSA-5686938. Regulation of TLR by endogenous ligand.
R-HSA-5687868. Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF).
R-HSA-5688849. Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5).
R-HSA-5688890. Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4).

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:10799. SFTPA2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted, Surface film

Pathology & Biotechi

Involvement in diseasei

Pulmonary fibrosis, idiopathic (IPF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:178500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063519198F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1
Natural variantiVAR_063520231G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi729238.
MalaCardsiSFTPA2.
MIMi178500. phenotype.
Orphaneti2032. Idiopathic pulmonary fibrosis.
PharmGKBiPA35711.

Polymorphism and mutation databases

BioMutaiSFTPA2.
DMDMi60416439.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Add BLAST20
ChainiPRO_000001745821 – 248Pulmonary surfactant-associated protein A2Add BLAST228

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi26Interchain1 Publication
Modified residuei304-hydroxyprolineBy similarity1
Modified residuei334-hydroxyprolineBy similarity1
Modified residuei364-hydroxyprolineBy similarity1
Modified residuei424-hydroxyprolineBy similarity1
Modified residuei544-hydroxyprolineBy similarity1
Modified residuei574-hydroxyprolineBy similarity1
Modified residuei634-hydroxyprolineBy similarity1
Modified residuei674-hydroxyprolineBy similarity1
Modified residuei704-hydroxyprolineBy similarity1
Disulfide bondi155 ↔ 246PROSITE-ProRule annotation1 Publication
Glycosylationi207N-linked (GlcNAc...)Curated1
Disulfide bondi224 ↔ 238PROSITE-ProRule annotation1 Publication

Post-translational modificationi

N-acetylated.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

PaxDbiQ8IWL1.
PeptideAtlasiQ8IWL1.
PRIDEiQ8IWL1.

PTM databases

iPTMnetiQ8IWL1.
PhosphoSitePlusiQ8IWL1.

Expressioni

Gene expression databases

BgeeiENSG00000185303.
CleanExiHS_PSAP.
HS_SFTPA2B.
ExpressionAtlasiQ8IWL1. baseline and differential.
GenevisibleiQ8IWL1. HS.

Organism-specific databases

HPAiCAB002439.
HPA042638.
HPA045752.
HPA049368.

Interactioni

Subunit structurei

Oligomeric complex of 6 set of homotrimers.

Protein-protein interaction databases

BioGridi609641. 2 interactors.
IntActiQ8IWL1. 1 interactor.
STRINGi9606.ENSP00000361400.

Structurei

3D structure databases

ProteinModelPortaliQ8IWL1.
SMRiQ8IWL1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 100Collagen-likeAdd BLAST73
Domaini132 – 248C-type lectinPROSITE-ProRule annotationAdd BLAST117

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

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
HOGENOMiHOG000085660.
HOVERGENiHBG108270.
InParanoidiQ8IWL1.
KOiK10067.
OrthoDBiEOG091G0PU5.
PhylomeDBiQ8IWL1.
TreeFamiTF330481.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR018378. C-type_lectin_CS.
IPR016187. CTDL_fold.
[Graphical view]
PfamiPF00059. 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

« Hide

        10         20         30         40         50
MWLCPLALNL ILMAASGAAC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGV
60 70 80 90 100
KGDPGPPGPM GPPGETPCPP GNNGLPGAPG VPGERGEKGE AGERGPPGLP
110 120 130 140 150
AHLDEELQAT LHDFRHQILQ TRGALSLQGS IMTVGEKVFS SNGQSITFDA
160 170 180 190 200
IQEACARAGG RIAVPRNPEE NEAIASFVKK YNTYAYVGLT EGPSPGDFRY
210 220 230 240
SDGTPVNYTN WYRGEPAGRG KEQCVEMYTD GQWNDRNCLY SRLTICEF
Length:248
Mass (Da):26,182
Last modified:March 1, 2003 - v1
Checksum:i3949613C32CA0078
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti247E → D in AAA60319 (PubMed:1372511).Curated1

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0212939N → T in allele 1A, allele 1A(1), allele 1A(2) and allele 1A(4). 6 PublicationsCorresponds to variant rs1059046dbSNPEnsembl.1
Natural variantiVAR_06351812L → W.1 Publication1
Natural variantiVAR_02129450V → L.2 PublicationsCorresponds to variant rs192907309dbSNPEnsembl.1
Natural variantiVAR_02129591A → P in allele 1A. 3 PublicationsCorresponds to variant rs17886395dbSNPEnsembl.1
Natural variantiVAR_063519198F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1
Natural variantiVAR_021296223Q → K in allele 1A(1), allele 1A(3) and allele 1A(4). 4 PublicationsCorresponds to variant rs1965708dbSNPEnsembl.1
Natural variantiVAR_063520231G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001098668.3.
NP_001307742.1. NM_001320813.1.
XP_005270189.1. XM_005270132.3.
XP_011538426.1. XM_011540124.1.
XP_011538427.1. XM_011540125.1.
XP_016872097.1. XM_017016608.1.
UniGeneiHs.523084.

Genome annotation databases

EnsembliENST00000372325; ENSP00000361400; ENSG00000185303.
ENST00000372327; ENSP00000361402; ENSG00000185303.
GeneIDi729238.
KEGGihsa:729238.
UCSCiuc001kal.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001098668.3.
NP_001307742.1. NM_001320813.1.
XP_005270189.1. XM_005270132.3.
XP_011538426.1. XM_011540124.1.
XP_011538427.1. XM_011540125.1.
XP_016872097.1. XM_017016608.1.
UniGeneiHs.523084.

3D structure databases

ProteinModelPortaliQ8IWL1.
SMRiQ8IWL1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi609641. 2 interactors.
IntActiQ8IWL1. 1 interactor.
STRINGi9606.ENSP00000361400.

PTM databases

iPTMnetiQ8IWL1.
PhosphoSitePlusiQ8IWL1.

Polymorphism and mutation databases

BioMutaiSFTPA2.
DMDMi60416439.

Proteomic databases

PaxDbiQ8IWL1.
PeptideAtlasiQ8IWL1.
PRIDEiQ8IWL1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372325; ENSP00000361400; ENSG00000185303.
ENST00000372327; ENSP00000361402; ENSG00000185303.
GeneIDi729238.
KEGGihsa:729238.
UCSCiuc001kal.5. human.

Organism-specific databases

CTDi729238.
DisGeNETi729238.
GeneCardsiSFTPA2.
HGNCiHGNC:10799. SFTPA2.
HPAiCAB002439.
HPA042638.
HPA045752.
HPA049368.
MalaCardsiSFTPA2.
MIMi178500. phenotype.
178642. gene.
neXtProtiNX_Q8IWL1.
Orphaneti2032. Idiopathic pulmonary fibrosis.
PharmGKBiPA35711.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
HOGENOMiHOG000085660.
HOVERGENiHBG108270.
InParanoidiQ8IWL1.
KOiK10067.
OrthoDBiEOG091G0PU5.
PhylomeDBiQ8IWL1.
TreeFamiTF330481.

Enzyme and pathway databases

ReactomeiR-HSA-166016. Toll Like Receptor 4 (TLR4) Cascade.
R-HSA-168179. Toll Like Receptor TLR1:TLR2 Cascade.
R-HSA-391160. Signal regulatory protein (SIRP) family interactions.
R-HSA-5683678. Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3).
R-HSA-5683826. Surfactant metabolism.
R-HSA-5686938. Regulation of TLR by endogenous ligand.
R-HSA-5687868. Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF).
R-HSA-5688849. Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5).
R-HSA-5688890. Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4).

Miscellaneous databases

ChiTaRSiSFTPA2. human.
GeneWikiiSFTPA2.
GenomeRNAii729238.
PROiQ8IWL1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185303.
CleanExiHS_PSAP.
HS_SFTPA2B.
ExpressionAtlasiQ8IWL1. baseline and differential.
GenevisibleiQ8IWL1. HS.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR018378. C-type_lectin_CS.
IPR016187. CTDL_fold.
[Graphical view]
PfamiPF00059. 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]
ProtoNetiSearch...

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: November 30, 2016
This is version 138 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.