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Protein

Pulmonary surfactant-associated protein A1

Gene

SFTPA1

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. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity).By similarity
(Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169).3 Publications

GO - Molecular functioni

  • carbohydrate binding Source: UniProtKB-KW
  • lipid transporter activity Source: ProtInc

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-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 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 namesi
Name:SFTPA1
Synonyms:COLEC4, PSAP, SFTP1, SFTPA, SFTPA1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:10798. SFTPA1.

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)
Disease susceptibility is associated with variations 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
Respiratory distress syndrome in premature infants (RDS)1 Publication
Disease susceptibility may be 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.
Disease descriptionA 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'.
See also OMIM:267450

Organism-specific databases

DisGeNETi653509.
MalaCardsiSFTPA1.
MIMi178500. phenotype.
267450. phenotype.
OpenTargetsiENSG00000122852.
Orphaneti2032. Idiopathic pulmonary fibrosis.
PharmGKBiPA35710.

Polymorphism and mutation databases

BioMutaiSFTPA1.
DMDMi60416440.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Add BLAST20
ChainiPRO_000001745721 – 248Pulmonary surfactant-associated protein A1Add 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

PaxDbiQ8IWL2.
PeptideAtlasiQ8IWL2.
PRIDEiQ8IWL2.

PTM databases

iPTMnetiQ8IWL2.
PhosphoSitePlusiQ8IWL2.

Expressioni

Gene expression databases

BgeeiENSG00000122852.
CleanExiHS_PSAP.
HS_SFTPA1B.
ExpressionAtlasiQ8IWL2. baseline and differential.
GenevisibleiQ8IWL2. HS.

Organism-specific databases

HPAiCAB016793.
HPA042638.
HPA045752.
HPA049368.

Interactioni

Subunit structurei

Oligomeric complex of 6 set of homotrimers.1 Publication
(Microbial infection) Binds M.bovis cell surface protein Apa via its glycosylated sites; probably also recognizes other bacterial moieties (PubMed:17158455). Binds to the S.aureus extracellular adherence protein, Eap, thereby enhancing phagocytosis and killing of S.aureus by alveolar macrophages (PubMed:21123169).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DMBT1Q9UGM32EBI-11316418,EBI-1044970

Protein-protein interaction databases

BioGridi575839. 2 interactors.
IntActiQ8IWL2. 1 interactor.
STRINGi9606.ENSP00000397082.

Structurei

3D structure databases

ProteinModelPortaliQ8IWL2.
SMRiQ8IWL2.
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.
GeneTreeiENSGT00700000104102.
HOVERGENiHBG108270.
InParanoidiQ8IWL2.
KOiK10067.
OMAiTPGDFHY.
OrthoDBiEOG091G0PU5.
PhylomeDBiQ8IWL2.
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]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IWL2-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MWLCPLALNL ILMAASGAVC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGL
60 70 80 90 100
KGDPGPPGPM GPPGEMPCPP GNDGLPGAPG IPGECGEKGE PGERGPPGLP
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):26,242
Last modified:March 1, 2005 - v2
Checksum:iAFFFCF38B87BE081
GO
Isoform 2 (identifier: Q8IWL2-2) [UniParc]FASTAAdd to basket

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

Show »
Length:263
Mass (Da):27,736
Checksum:i39F4A2E09F3F0AC3
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45D → H in AAA36510 (PubMed:2995821).Curated1
Sequence conflicti54P → L in AAA36510 (PubMed:2995821).Curated1
Sequence conflicti100P → R in AAA36510 (PubMed:2995821).Curated1

Polymorphismi

At least 5 allelic variants of SFTPA1 are known: 6A, 6A2, 6A3, 6A4 and 6A5. The sequence shown is that of allele 6A3.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0635175P → L.1 PublicationCorresponds to variant rs72659389dbSNPEnsembl.1
Natural variantiVAR_0041849N → T.2 PublicationsCorresponds to variant rs1059046dbSNPEnsembl.1
Natural variantiVAR_02129219V → A in allele 6A and allele 6A(5). 4 PublicationsCorresponds to variant rs1059047dbSNPEnsembl.1
Natural variantiVAR_01223150L → V in allele 6A(2). 3 PublicationsCorresponds to variant rs1136450dbSNPEnsembl.1
Natural variantiVAR_012232219R → W Associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5). 4 PublicationsCorresponds to variant rs4253527dbSNPEnsembl.1
Natural variantiVAR_012233223Q → K.Corresponds to variant rs1965708dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0468021M → MRPCQVPGAATGPRAM in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS44444.2. [Q8IWL2-2]
CCDS44445.1. [Q8IWL2-1]
PIRiA24622. LNHUPS.
A25720. LNHUP6.
RefSeqiNP_001087239.2. NM_001093770.2. [Q8IWL2-2]
NP_001158116.1. NM_001164644.1. [Q8IWL2-1]
NP_001158119.1. NM_001164647.1. [Q8IWL2-1]
NP_005402.3. NM_005411.4. [Q8IWL2-1]
XP_005270119.1. XM_005270062.4. [Q8IWL2-1]
XP_006718016.1. XM_006717953.2. [Q8IWL2-2]
UniGeneiHs.535295.
Hs.745476.

Genome annotation databases

EnsembliENST00000398636; ENSP00000381633; ENSG00000122852. [Q8IWL2-1]
ENST00000419470; ENSP00000397082; ENSG00000122852. [Q8IWL2-2]
ENST00000428376; ENSP00000411102; ENSG00000122852. [Q8IWL2-1]
GeneIDi653509.
KEGGihsa:653509.
UCSCiuc001kap.4. human. [Q8IWL2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs
Functional Glycomics Gateway - Glycan Binding

Pulmonary surfactant protein SP-A1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS44444.2. [Q8IWL2-2]
CCDS44445.1. [Q8IWL2-1]
PIRiA24622. LNHUPS.
A25720. LNHUP6.
RefSeqiNP_001087239.2. NM_001093770.2. [Q8IWL2-2]
NP_001158116.1. NM_001164644.1. [Q8IWL2-1]
NP_001158119.1. NM_001164647.1. [Q8IWL2-1]
NP_005402.3. NM_005411.4. [Q8IWL2-1]
XP_005270119.1. XM_005270062.4. [Q8IWL2-1]
XP_006718016.1. XM_006717953.2. [Q8IWL2-2]
UniGeneiHs.535295.
Hs.745476.

3D structure databases

ProteinModelPortaliQ8IWL2.
SMRiQ8IWL2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi575839. 2 interactors.
IntActiQ8IWL2. 1 interactor.
STRINGi9606.ENSP00000397082.

PTM databases

iPTMnetiQ8IWL2.
PhosphoSitePlusiQ8IWL2.

Polymorphism and mutation databases

BioMutaiSFTPA1.
DMDMi60416440.

Proteomic databases

PaxDbiQ8IWL2.
PeptideAtlasiQ8IWL2.
PRIDEiQ8IWL2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398636; ENSP00000381633; ENSG00000122852. [Q8IWL2-1]
ENST00000419470; ENSP00000397082; ENSG00000122852. [Q8IWL2-2]
ENST00000428376; ENSP00000411102; ENSG00000122852. [Q8IWL2-1]
GeneIDi653509.
KEGGihsa:653509.
UCSCiuc001kap.4. human. [Q8IWL2-1]

Organism-specific databases

CTDi653509.
DisGeNETi653509.
GeneCardsiSFTPA1.
HGNCiHGNC:10798. SFTPA1.
HPAiCAB016793.
HPA042638.
HPA045752.
HPA049368.
MalaCardsiSFTPA1.
MIMi178500. phenotype.
178630. gene.
267450. phenotype.
neXtProtiNX_Q8IWL2.
OpenTargetsiENSG00000122852.
Orphaneti2032. Idiopathic pulmonary fibrosis.
PharmGKBiPA35710.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4297. Eukaryota.
ENOG410XPJ1. LUCA.
GeneTreeiENSGT00700000104102.
HOVERGENiHBG108270.
InParanoidiQ8IWL2.
KOiK10067.
OMAiTPGDFHY.
OrthoDBiEOG091G0PU5.
PhylomeDBiQ8IWL2.
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-5688849. Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5).
R-HSA-5688890. Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4).

Miscellaneous databases

GeneWikiiPulmonary_surfactant-associated_protein_A1.
GenomeRNAii653509.
PROiQ8IWL2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122852.
CleanExiHS_PSAP.
HS_SFTPA1B.
ExpressionAtlasiQ8IWL2. baseline and differential.
GenevisibleiQ8IWL2. 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 nameiSFTA1_HUMAN
AccessioniPrimary (citable) accession number: Q8IWL2
Secondary accession number(s): A8K3T8
, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, P07714, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8TC19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: March 1, 2005
Last modified: November 30, 2016
This is version 147 of the entry and version 2 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.