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Protein

Pulmonary surfactant-associated protein C

Gene

SFTPC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Keywordsi

Biological processGaseous exchange

Enzyme and pathway databases

ReactomeiR-HSA-5683678 Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)
R-HSA-5683826 Surfactant metabolism
R-HSA-5688354 Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
SIGNORiP11686

Names & Taxonomyi

Protein namesi
Recommended name:
Pulmonary surfactant-associated protein C
Short name:
SP-C
Alternative name(s):
Pulmonary surfactant-associated proteolipid SPL(Val)
SP5
Gene namesi
Name:SFTPC
Synonyms:SFTP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000168484.12
HGNCiHGNC:10802 SFTPC
MIMi178620 gene
neXtProtiNX_P11686

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted, Surface film

Pathology & Biotechi

Involvement in diseasei

Pulmonary surfactant metabolism dysfunction 2 (SMDP2)5 Publications
The disease is caused by mutations 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.
See also OMIM:610913
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03685566E → K in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function. 1 Publication1
Natural variantiVAR_02675373I → T in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli. 3 Publications1
Natural variantiVAR_026754116A → D in SMDP2. 1 Publication1
Natural variantiVAR_026755167R → Q in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs34957318Ensembl.1
Natural variantiVAR_026756188L → Q in SMDP2. 1 Publication1
Respiratory distress syndrome in premature infants (RDS)1 Publication
Disease susceptibility may be associated with variations 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'.
See also OMIM:267450

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6440
GeneReviewsiSFTPC
MalaCardsiSFTPC
MIMi267450 phenotype
610913 phenotype
Orphaneti217566 Chronic respiratory distress with surfactant metabolism deficiency
264675 Congenital pulmonary alveolar proteinosis
98852 Desquamative interstitial pneumonia
2032 Idiopathic pulmonary fibrosis
70587 Infant acute respiratory distress syndrome
PharmGKBiPA35714

Polymorphism and mutation databases

BioMutaiSFTPC
DMDMi131425

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
PropeptideiPRO_00000334771 – 231 PublicationAdd BLAST23
ChainiPRO_000003347824 – 58Pulmonary surfactant-associated protein CAdd BLAST35
PropeptideiPRO_000003347959 – 197Add BLAST139

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi28S-palmitoyl cysteine1 Publication1
Lipidationi29S-palmitoyl cysteine1 Publication1
Disulfide bondi120 ↔ 1481 Publication
Disulfide bondi121 ↔ 1891 Publication

Keywords - PTMi

Disulfide bond, Lipoprotein, Palmitate

Proteomic databases

PaxDbiP11686
PeptideAtlasiP11686
PRIDEiP11686

PTM databases

iPTMnetiP11686
PhosphoSitePlusiP11686
SwissPalmiP11686

Expressioni

Gene expression databases

BgeeiENSG00000168484
CleanExiHS_SFTPC
ExpressionAtlasiP11686 baseline and differential
GenevisibleiP11686 HS

Organism-specific databases

HPAiCAB009313
HPA010928

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi112338, 29 interactors
DIPiDIP-61551N
IntActiP11686, 12 interactors
STRINGi9606.ENSP00000316152

Structurei

Secondary structure

1197
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi91 – 96Combined sources6
Turni97 – 99Combined sources3
Beta strandi100 – 105Combined sources6
Turni106 – 109Combined sources4
Beta strandi110 – 116Combined sources7
Beta strandi121 – 125Combined sources5
Helixi134 – 143Combined sources10
Helixi183 – 189Combined sources7
Beta strandi194 – 197Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YADX-ray2.20A/B/C/D/E/F59-197[»]
ProteinModelPortaliP11686
SMRiP11686
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini94 – 197BRICHOSPROSITE-ProRule annotationAdd BLAST104

Phylogenomic databases

eggNOGiENOG410IY85 Eukaryota
ENOG41118MZ LUCA
HOGENOMiHOG000115746
HOVERGENiHBG000160
InParanoidiP11686
OrthoDBiEOG091G0P1Q
PhylomeDBiP11686
TreeFamiTF337317

Family and domain databases

InterProiView protein in InterPro
IPR007084 BRICHOS_dom
IPR001729 SP-C
IPR018051 SP-C_palmitoylation_site
IPR015091 Surfactant_protein_propep
PANTHERiPTHR10800 PTHR10800, 1 hit
PfamiView protein in Pfam
PF04089 BRICHOS, 1 hit
PF08999 SP_C-Propep, 1 hit
SMARTiView protein in SMART
SM01039 BRICHOS, 1 hit
SM00019 SF_P, 1 hit
PROSITEiView protein in PROSITE
PS50869 BRICHOS, 1 hit
PS00341 SURFACT_PALMITOYL, 1 hit

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: P11686-1) [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
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
Length:197
Mass (Da):21,053
Last modified:April 1, 1990 - v2
Checksum:iC26A21E33C60AA78
GO
Isoform 2 (identifier: P11686-2) [UniParc]FASTAAdd to basket
Also known as: C1

The sequence of this isoform differs from the canonical sequence as follows:
     146-151: Missing.

Show »
Length:191
Mass (Da):20,361
Checksum:i4C45300448DE03FA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14P → PPCQ in AAB60332 (PubMed:8181452).Curated1
Sequence conflicti45L → S in AAB60332 (PubMed:8181452).Curated1
Sequence conflicti65 – 67TEM → FPQ in AAB60332 (PubMed:8181452).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03685566E → K in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function. 1 Publication1
Natural variantiVAR_02675373I → T in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli. 3 Publications1
Natural variantiVAR_026754116A → D in SMDP2. 1 Publication1
Natural variantiVAR_007453138N → T Influences susceptibility to RDS in premature infants. 8 PublicationsCorresponds to variant dbSNP:rs4715Ensembl.1
Natural variantiVAR_026755167R → Q in SMDP2. 1 PublicationCorresponds to variant dbSNP:rs34957318Ensembl.1
Natural variantiVAR_016175186N → S Influences susceptibility to RDS in premature infants. 7 PublicationsCorresponds to variant dbSNP:rs1124Ensembl.1
Natural variantiVAR_026756188L → Q in SMDP2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006311146 – 151Missing in isoform 2. 1 Publication6

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
CCDSiCCDS43722.1 [P11686-1]
CCDS55209.1 [P11686-2]
PIRiA28801 LNHUC
RefSeqiNP_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
UniGeneiHs.1074

Genome annotation databases

EnsembliENST00000318561; ENSP00000316152; ENSG00000168484
GeneIDi6440
KEGGihsa:6440
UCSCiuc003xax.5 human [P11686-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPSPC_HUMAN
AccessioniPrimary (citable) accession number: P11686
Secondary accession number(s): A6XNE4
, B2RE00, E9PGX3, P11687, Q12793, Q7Z5D0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: April 1, 1990
Last modified: April 25, 2018
This is version 186 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome
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Main funding by: National Institutes of Health