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Protein

Pulmonary surfactant-associated protein C

Gene

SFTPC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Gaseous exchange

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168484-MONOMER.
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).

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

HGNCiHGNC:10802. SFTPC.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs34957318dbSNPEnsembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007453138N → T Influences susceptibility to RDS in premature infants. 8 PublicationsCorresponds to variant rs4715dbSNPEnsembl.1
Natural variantiVAR_016175186N → S Influences susceptibility to RDS in premature infants. 7 PublicationsCorresponds to variant rs1124dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6440.
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

WithEntry#Exp.IntActNotes
itself3EBI-10197617,EBI-10197617
CXCL9Q073255EBI-10197617,EBI-3911467
SEC22AQ96IW75EBI-10197617,EBI-8652744
SEC61GP600593EBI-10197617,EBI-4402709
SYNE4Q8N2053EBI-10197617,EBI-7131783
TMEM79Q9BSE25EBI-10197617,EBI-8649725

Protein-protein interaction databases

BioGridi112338. 26 interactors.
DIPiDIP-61551N.
IntActiP11686. 5 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

Sequence similaritiesi

Contains 1 BRICHOS domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IY85. Eukaryota.
ENOG41118MZ. LUCA.
HOGENOMiHOG000115746.
HOVERGENiHBG000160.
InParanoidiP11686.
OrthoDBiEOG091G0P1Q.
PhylomeDBiP11686.
TreeFamiTF337317.

Family and domain databases

InterProiIPR007084. BRICHOS_dom.
IPR001729. SP-C.
IPR018051. SP-C_palmitoylation_site.
IPR015091. Surfactant_protein_propep.
[Graphical view]
PfamiPF04089. BRICHOS. 1 hit.
PF08999. SP_C-Propep. 1 hit.
[Graphical view]
SMARTiSM01039. BRICHOS. 1 hit.
SM00019. SF_P. 1 hit.
[Graphical view]
PROSITEiPS50869. BRICHOS. 1 hit.
PS00341. SURFACT_PALMITOYL. 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: 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 rs4715dbSNPEnsembl.1
Natural variantiVAR_026755167R → Q in SMDP2. 1 PublicationCorresponds to variant rs34957318dbSNPEnsembl.1
Natural variantiVAR_016175186N → S Influences susceptibility to RDS in premature infants. 7 PublicationsCorresponds to variant rs1124dbSNPEnsembl.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

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.
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.

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...

Protein-protein interaction databases

BioGridi112338. 26 interactors.
DIPiDIP-61551N.
IntActiP11686. 5 interactors.
STRINGi9606.ENSP00000316152.

PTM databases

iPTMnetiP11686.
PhosphoSitePlusiP11686.
SwissPalmiP11686.

Polymorphism and mutation databases

BioMutaiSFTPC.
DMDMi131425.

Proteomic databases

PaxDbiP11686.
PeptideAtlasiP11686.
PRIDEiP11686.

Protocols and materials databases

DNASUi6440.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6440.
DisGeNETi6440.
GeneCardsiSFTPC.
GeneReviewsiSFTPC.
H-InvDBHIX0007365.
HGNCiHGNC:10802. SFTPC.
HPAiCAB009313.
HPA010928.
MalaCardsiSFTPC.
MIMi178620. gene.
267450. phenotype.
610913. phenotype.
neXtProtiNX_P11686.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IY85. Eukaryota.
ENOG41118MZ. LUCA.
HOGENOMiHOG000115746.
HOVERGENiHBG000160.
InParanoidiP11686.
OrthoDBiEOG091G0P1Q.
PhylomeDBiP11686.
TreeFamiTF337317.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168484-MONOMER.
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).

Miscellaneous databases

ChiTaRSiSFTPC. human.
GeneWikiiPulmonary_surfactant-associated_protein_C.
GenomeRNAii6440.
PROiP11686.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168484.
CleanExiHS_SFTPC.
ExpressionAtlasiP11686. baseline and differential.
GenevisibleiP11686. HS.

Family and domain databases

InterProiIPR007084. BRICHOS_dom.
IPR001729. SP-C.
IPR018051. SP-C_palmitoylation_site.
IPR015091. Surfactant_protein_propep.
[Graphical view]
PfamiPF04089. BRICHOS. 1 hit.
PF08999. SP_C-Propep. 1 hit.
[Graphical view]
SMARTiSM01039. BRICHOS. 1 hit.
SM00019. SF_P. 1 hit.
[Graphical view]
PROSITEiPS50869. BRICHOS. 1 hit.
PS00341. SURFACT_PALMITOYL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPSPC_HUMAN
AccessioniPrimary (citable) accession number: P11686
Secondary accession number(s): A6XNE4
, B2RE00, E9PGX3, P11687, Q12793, Q7Z5D0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: April 1, 1990
Last modified: November 30, 2016
This is version 178 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.