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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

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661E → K in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function. 1 Publication
VAR_036855
Natural varianti73 – 731I → T in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli. 3 Publications
VAR_026753
Natural varianti116 – 1161A → D in SMDP2. 1 Publication
VAR_026754
Natural varianti167 – 1671R → Q in SMDP2. 1 Publication
Corresponds to variant rs34957318 [ dbSNP | Ensembl ].
VAR_026755
Natural varianti188 – 1881L → Q in SMDP2. 1 Publication
VAR_026756
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti138 – 1381N → T Influences susceptibility to RDS in premature infants. 8 Publications
Corresponds to variant rs4715 [ dbSNP | Ensembl ].
VAR_007453
Natural varianti186 – 1861N → S Influences susceptibility to RDS in premature infants. 7 Publications
Corresponds to variant rs1124 [ dbSNP | Ensembl ].
VAR_016175

Keywords - Diseasei

Disease mutation

Organism-specific databases

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)LengthDescriptionGraphical viewFeature identifierActions
Propeptidei1 – 23231 PublicationPRO_0000033477Add
BLAST
Chaini24 – 5835Pulmonary surfactant-associated protein CPRO_0000033478Add
BLAST
Propeptidei59 – 197139PRO_0000033479Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi28 – 281S-palmitoyl cysteine1 Publication
Lipidationi29 – 291S-palmitoyl cysteine1 Publication
Disulfide bondi120 ↔ 1481 Publication
Disulfide bondi121 ↔ 1891 Publication

Keywords - PTMi

Disulfide bond, Lipoprotein, Palmitate

Proteomic databases

PaxDbiP11686.
PeptideAtlasiP11686.
PRIDEiP11686.

PTM databases

iPTMnetiP11686.
PhosphoSiteiP11686.
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
CXCL9Q073253EBI-10197617,EBI-3911467
SEC22AQ96IW73EBI-10197617,EBI-8652744
SEC61GP600593EBI-10197617,EBI-4402709
SYNE4Q8N2053EBI-10197617,EBI-7131783
TMEM79Q9BSE23EBI-10197617,EBI-8649725

Protein-protein interaction databases

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

Structurei

Secondary structure

1
197
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi91 – 966Combined sources
Turni97 – 993Combined sources
Beta strandi100 – 1056Combined sources
Turni106 – 1094Combined sources
Beta strandi110 – 1167Combined sources
Beta strandi121 – 1255Combined sources
Helixi134 – 14310Combined sources
Helixi183 – 1897Combined sources
Beta strandi194 – 1974Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YADX-ray2.20A/B/C/D/E/F59-197[»]
ProteinModelPortaliP11686.
SMRiP11686. Positions 87-197.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini94 – 197104BRICHOSPROSITE-ProRule annotationAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141P → PPCQ in AAB60332 (PubMed:8181452).Curated
Sequence conflicti45 – 451L → S in AAB60332 (PubMed:8181452).Curated
Sequence conflicti65 – 673TEM → FPQ in AAB60332 (PubMed:8181452).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661E → K in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function. 1 Publication
VAR_036855
Natural varianti73 – 731I → T in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli. 3 Publications
VAR_026753
Natural varianti116 – 1161A → D in SMDP2. 1 Publication
VAR_026754
Natural varianti138 – 1381N → T Influences susceptibility to RDS in premature infants. 8 Publications
Corresponds to variant rs4715 [ dbSNP | Ensembl ].
VAR_007453
Natural varianti167 – 1671R → Q in SMDP2. 1 Publication
Corresponds to variant rs34957318 [ dbSNP | Ensembl ].
VAR_026755
Natural varianti186 – 1861N → S Influences susceptibility to RDS in premature infants. 7 Publications
Corresponds to variant rs1124 [ dbSNP | Ensembl ].
VAR_016175
Natural varianti188 – 1881L → Q in SMDP2. 1 Publication
VAR_026756

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei146 – 1516Missing in isoform 2. 1 PublicationVSP_006311

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
EntryMethodResolution (Å)ChainPositionsPDBsum
2YADX-ray2.20A/B/C/D/E/F59-197[»]
ProteinModelPortaliP11686.
SMRiP11686. Positions 87-197.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiP11686.
PhosphoSiteiP11686.
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.
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

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: September 7, 2016
This is version 175 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.