UniProtKB - P11686 (PSPC_HUMAN)
Protein
Pulmonary surfactant-associated protein C
Gene
SFTPC
Organism
Homo sapiens (Human)
Status
Functioni
Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces.
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).
GO - Molecular functioni
- identical protein binding Source: IntAct
GO - Biological processi
- cellular protein metabolic process Source: Reactome
- respiratory gaseous exchange by respiratory system Source: UniProtKB-KW
Keywordsi
Biological process | Gaseous exchange |
Enzyme and pathway databases
PathwayCommonsi | P11686 |
Reactomei | R-HSA-5683826, Surfactant metabolism R-HSA-5688354, Defective pro-SFTPC causes SMDP2 and RDS R-HSA-5688849, Defective CSF2RB causes SMDP5 R-HSA-5688890, Defective CSF2RA causes SMDP4 |
SIGNORi | P11686 |
Names & Taxonomyi
Protein namesi | Recommended name: Pulmonary surfactant-associated protein CShort name: SP-C Alternative name(s): Pulmonary surfactant-associated proteolipid SPL(Val) SP5 |
Gene namesi | Name:SFTPC Synonyms:SFTP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10802, SFTPC |
MIMi | 178620, gene |
neXtProti | NX_P11686 |
VEuPathDBi | HostDB:ENSG00000168484.12 |
Subcellular locationi
Extracellular region or secreted
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Endosome
- multivesicular body lumen Source: Reactome
Extracellular region or secreted
- extracellular region Source: Reactome
- extracellular space Source: GO_Central
Other locations
- alveolar lamellar body Source: GO_Central
- clathrin-coated endocytic vesicle Source: Reactome
- lamellar body Source: Reactome
Keywords - Cellular componenti
Secreted, Surface filmPathology & Biotechi
Involvement in diseasei
Pulmonary surfactant metabolism dysfunction 2 (SMDP2)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036855 | 66 | E → K in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function. 1 PublicationCorresponds to variant dbSNP:rs121917836EnsemblClinVar. | 1 | |
Natural variantiVAR_026753 | 73 | I → T in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli. 3 PublicationsCorresponds to variant dbSNP:rs121917834EnsemblClinVar. | 1 | |
Natural variantiVAR_026754 | 116 | A → D in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs121918559EnsemblClinVar. | 1 | |
Natural variantiVAR_026755 | 167 | R → Q in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs34957318Ensembl. | 1 | |
Natural variantiVAR_026756 | 188 | L → Q in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs121917835EnsemblClinVar. | 1 |
Respiratory distress syndrome in premature infants (RDS)1 Publication
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
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'.
Related information in OMIMKeywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 6440 |
GeneReviewsi | SFTPC |
MalaCardsi | SFTPC |
MIMi | 267450, phenotype 610913, phenotype |
Orphaneti | 217566, Chronic respiratory distress with surfactant metabolism deficiency 2032, Idiopathic pulmonary fibrosis 70587, Infant acute respiratory distress syndrome 440392, Interstitial lung disease due to SP-C deficiency |
PharmGKBi | PA35714 |
Miscellaneous databases
Pharosi | P11686, Tbio |
Genetic variation databases
BioMutai | SFTPC |
DMDMi | 131425 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
PropeptideiPRO_0000033477 | 1 – 23 | 1 PublicationAdd BLAST | 23 | |
ChainiPRO_0000033478 | 24 – 58 | Pulmonary surfactant-associated protein CAdd BLAST | 35 | |
PropeptideiPRO_0000033479 | 59 – 197 | Add BLAST | 139 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 28 | S-palmitoyl cysteine1 Publication | 1 | |
Lipidationi | 29 | S-palmitoyl cysteine1 Publication | 1 | |
Disulfide bondi | 120 ↔ 148 | 1 Publication | ||
Disulfide bondi | 121 ↔ 189 | 1 Publication |
Keywords - PTMi
Disulfide bond, Lipoprotein, PalmitateProteomic databases
MassIVEi | P11686 |
PaxDbi | P11686 |
PeptideAtlasi | P11686 |
PRIDEi | P11686 |
ProteomicsDBi | 20411 52799 [P11686-1] 52800 [P11686-2] |
PTM databases
iPTMneti | P11686 |
PhosphoSitePlusi | P11686 |
SwissPalmi | P11686 |
Expressioni
Gene expression databases
Bgeei | ENSG00000168484, Expressed in right lung and 198 other tissues |
ExpressionAtlasi | P11686, baseline and differential |
Genevisiblei | P11686, HS |
Organism-specific databases
HPAi | ENSG00000168484, Tissue enriched (lung) |
Interactioni
Binary interactionsi
Hide detailsP11686
Isoform 1 [P11686-1]
With | #Exp. | IntAct |
---|---|---|
Amyloid-beta protein 42 (PRO_0000000092) | 5 | EBI-16143688,EBI-821758 |
Isoform 2 [P11686-2]
With | #Exp. | IntAct |
---|---|---|
TMEM79 [Q9BSE2] | 3 | EBI-16435005,EBI-8649725 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 112338, 55 interactors |
DIPi | DIP-61551N |
IntActi | P11686, 43 interactors |
STRINGi | 9606.ENSP00000316152 |
Miscellaneous databases
RNActi | P11686, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P11686 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 94 – 197 | BRICHOSPROSITE-ProRule annotationAdd BLAST | 104 |
Phylogenomic databases
eggNOGi | ENOG502S6QH, Eukaryota |
InParanoidi | P11686 |
OrthoDBi | 1323673at2759 |
PhylomeDBi | P11686 |
TreeFami | TF337317 |
Family and domain databases
InterProi | View protein in InterPro IPR007084, BRICHOS_dom IPR001729, SP-C IPR018051, SP-C_palmitoylation_site IPR015091, Surfactant_protein_propep |
PANTHERi | PTHR10800, PTHR10800, 1 hit |
Pfami | View protein in Pfam PF04089, BRICHOS, 1 hit PF08999, SP_C-Propep, 1 hit |
SMARTi | View protein in SMART SM01039, BRICHOS, 1 hit SM00019, SF_P, 1 hit |
PROSITEi | View protein in PROSITE PS50869, BRICHOS, 1 hit PS00341, SURFACT_PALMITOYL, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P11686-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI
60 70 80 90 100
VGALLMGLHM SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG
110 120 130 140 150
LVVYDYQQLL IAYKPAPGTC CYIMKIAPES IPSLEALNRK VHNFQMECSL
160 170 180 190
QAKPAVPTSK LGQAEGRDAG SAPSGGDPAF LGMAVNTLCG EVPLYYI
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MTC9 | A0A0A0MTC9_HUMAN | Pulmonary surfactant-associated pro... | SFTPC | 191 | Annotation score: | ||
C9JYF6 | C9JYF6_HUMAN | Pulmonary surfactant-associated pro... | SFTPC | 161 | Annotation score: | ||
E5RI92 | E5RI92_HUMAN | Pulmonary surfactant-associated pro... | SFTPC | 150 | Annotation score: | ||
E5RHW5 | E5RHW5_HUMAN | Pulmonary surfactant-associated pro... | SFTPC | 124 | Annotation score: | ||
E5RI64 | E5RI64_HUMAN | Pulmonary surfactant-associated pro... | SFTPC | 144 | Annotation score: | ||
E5RG20 | E5RG20_HUMAN | Pulmonary surfactant-associated pro... | SFTPC | 155 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 14 | P → PPCQ in AAB60332 (PubMed:8181452).Curated | 1 | |
Sequence conflicti | 45 | L → S in AAB60332 (PubMed:8181452).Curated | 1 | |
Sequence conflicti | 65 – 67 | TEM → FPQ in AAB60332 (PubMed:8181452).Curated | 3 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036855 | 66 | E → K in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function. 1 PublicationCorresponds to variant dbSNP:rs121917836EnsemblClinVar. | 1 | |
Natural variantiVAR_026753 | 73 | I → T in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli. 3 PublicationsCorresponds to variant dbSNP:rs121917834EnsemblClinVar. | 1 | |
Natural variantiVAR_026754 | 116 | A → D in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs121918559EnsemblClinVar. | 1 | |
Natural variantiVAR_007453 | 138 | N → T Influences susceptibility to RDS in premature infants. 8 PublicationsCorresponds to variant dbSNP:rs4715Ensembl. | 1 | |
Natural variantiVAR_026755 | 167 | R → Q in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs34957318Ensembl. | 1 | |
Natural variantiVAR_016175 | 186 | N → S Influences susceptibility to RDS in premature infants. 7 PublicationsCorresponds to variant dbSNP:rs1124Ensembl. | 1 | |
Natural variantiVAR_026756 | 188 | L → Q in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs121917835EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006311 | 146 – 151 | Missing in isoform 2. 1 Publication | 6 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03553 mRNA Translation: AAA36631.1 J03517 mRNA Translation: AAA36634.1 J03890 Genomic DNA Translation: AAC32022.1 J03890 Genomic DNA Translation: AAC32023.1 U02948 Genomic DNA Translation: AAB60332.1 AY357924 Genomic DNA Translation: AAQ67734.1 AK315742 mRNA Translation: BAG38097.1 DQ884411 mRNA Translation: ABI63378.1 AY337315 Genomic DNA Translation: AAP88034.1 AC105206 Genomic DNA No translation available. CH471080 Genomic DNA Translation: EAW63707.1 BC005913 mRNA Translation: AAH05913.1 |
CCDSi | CCDS43722.1 [P11686-1] CCDS55209.1 [P11686-2] |
PIRi | A28801, LNHUC |
RefSeqi | NP_001165828.1, NM_001172357.1 NP_001165881.1, NM_001172410.1 NP_001304707.1, NM_001317778.1 NP_001304708.1, NM_001317779.1 NP_001304709.1, NM_001317780.1 NP_003009.2, NM_003018.3 |
Genome annotation databases
Ensembli | ENST00000318561; ENSP00000316152; ENSG00000168484 |
GeneIDi | 6440 |
KEGGi | hsa:6440 |
UCSCi | uc003xax.5, human [P11686-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
SeattleSNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03553 mRNA Translation: AAA36631.1 J03517 mRNA Translation: AAA36634.1 J03890 Genomic DNA Translation: AAC32022.1 J03890 Genomic DNA Translation: AAC32023.1 U02948 Genomic DNA Translation: AAB60332.1 AY357924 Genomic DNA Translation: AAQ67734.1 AK315742 mRNA Translation: BAG38097.1 DQ884411 mRNA Translation: ABI63378.1 AY337315 Genomic DNA Translation: AAP88034.1 AC105206 Genomic DNA No translation available. CH471080 Genomic DNA Translation: EAW63707.1 BC005913 mRNA Translation: AAH05913.1 |
CCDSi | CCDS43722.1 [P11686-1] CCDS55209.1 [P11686-2] |
PIRi | A28801, LNHUC |
RefSeqi | NP_001165828.1, NM_001172357.1 NP_001165881.1, NM_001172410.1 NP_001304707.1, NM_001317778.1 NP_001304708.1, NM_001317779.1 NP_001304709.1, NM_001317780.1 NP_003009.2, NM_003018.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2YAD | X-ray | 2.20 | A/B/C/D/E/F | 59-197 | [»] | |
SMRi | P11686 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112338, 55 interactors |
DIPi | DIP-61551N |
IntActi | P11686, 43 interactors |
STRINGi | 9606.ENSP00000316152 |
PTM databases
iPTMneti | P11686 |
PhosphoSitePlusi | P11686 |
SwissPalmi | P11686 |
Genetic variation databases
BioMutai | SFTPC |
DMDMi | 131425 |
Proteomic databases
MassIVEi | P11686 |
PaxDbi | P11686 |
PeptideAtlasi | P11686 |
PRIDEi | P11686 |
ProteomicsDBi | 20411 52799 [P11686-1] 52800 [P11686-2] |
Protocols and materials databases
Antibodypediai | 3986, 417 antibodies |
DNASUi | 6440 |
Genome annotation databases
Ensembli | ENST00000318561; ENSP00000316152; ENSG00000168484 |
GeneIDi | 6440 |
KEGGi | hsa:6440 |
UCSCi | uc003xax.5, human [P11686-1] |
Organism-specific databases
CTDi | 6440 |
DisGeNETi | 6440 |
GeneCardsi | SFTPC |
GeneReviewsi | SFTPC |
HGNCi | HGNC:10802, SFTPC |
HPAi | ENSG00000168484, Tissue enriched (lung) |
MalaCardsi | SFTPC |
MIMi | 178620, gene 267450, phenotype 610913, phenotype |
neXtProti | NX_P11686 |
Orphaneti | 217566, Chronic respiratory distress with surfactant metabolism deficiency 2032, Idiopathic pulmonary fibrosis 70587, Infant acute respiratory distress syndrome 440392, Interstitial lung disease due to SP-C deficiency |
PharmGKBi | PA35714 |
VEuPathDBi | HostDB:ENSG00000168484.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S6QH, Eukaryota |
InParanoidi | P11686 |
OrthoDBi | 1323673at2759 |
PhylomeDBi | P11686 |
TreeFami | TF337317 |
Enzyme and pathway databases
PathwayCommonsi | P11686 |
Reactomei | R-HSA-5683826, Surfactant metabolism R-HSA-5688354, Defective pro-SFTPC causes SMDP2 and RDS R-HSA-5688849, Defective CSF2RB causes SMDP5 R-HSA-5688890, Defective CSF2RA causes SMDP4 |
SIGNORi | P11686 |
Miscellaneous databases
BioGRID-ORCSi | 6440, 1 hit in 869 CRISPR screens |
ChiTaRSi | SFTPC, human |
GeneWikii | Pulmonary_surfactant-associated_protein_C |
GenomeRNAii | 6440 |
Pharosi | P11686, Tbio |
PROi | PR:P11686 |
RNActi | P11686, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168484, Expressed in right lung and 198 other tissues |
ExpressionAtlasi | P11686, baseline and differential |
Genevisiblei | P11686, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007084, BRICHOS_dom IPR001729, SP-C IPR018051, SP-C_palmitoylation_site IPR015091, Surfactant_protein_propep |
PANTHERi | PTHR10800, PTHR10800, 1 hit |
Pfami | View protein in Pfam PF04089, BRICHOS, 1 hit PF08999, SP_C-Propep, 1 hit |
SMARTi | View protein in SMART SM01039, BRICHOS, 1 hit SM00019, SF_P, 1 hit |
PROSITEi | View protein in PROSITE PS50869, BRICHOS, 1 hit PS00341, SURFACT_PALMITOYL, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PSPC_HUMAN | |
Accessioni | P11686Primary (citable) accession number: P11686 Secondary accession number(s): A6XNE4 Q7Z5D0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1989 |
Last sequence update: | April 1, 1990 | |
Last modified: | February 10, 2021 | |
This is version 206 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human entries with genetic variants
List of human entries with genetic variants