P11686 (PSPC_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 143.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Pulmonary surfactant-associated protein C Short name=SP-C Alternative name(s): Pulmonary surfactant-associated proteolipid SPL(Val) SP5 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 197 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. |
| Subcellular location | |
| Involvement in disease | Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]: A 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. Respiratory distress syndrome in premature infants (RDS) [MIM:267450]: A 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'. |
| 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). |
| Sequence similarities | Contains 1 BRICHOS domain. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P11686-1) 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. | ||||||
| Isoform 2 (identifier: P11686-2) Also known as: C1; The sequence of this isoform differs from the canonical sequence as follows: 146-151: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||
Molecule processing | ||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Propeptide | 1 – 23 | 23 | PRO_0000033477 | |||||||||||||||||||
| Chain | 24 – 58 | 35 | Pulmonary surfactant-associated protein C | PRO_0000033478 | ||||||||||||||||||
| Propeptide | 59 – 197 | 139 | PRO_0000033479 | |||||||||||||||||||
Regions | ||||||||||||||||||||||
| Domain | 94 – 197 | 104 | BRICHOS | |||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||
| Lipidation | 28 | 1 | S-palmitoyl cysteine Ref.13 | |||||||||||||||||||
| Lipidation | 29 | 1 | S-palmitoyl cysteine Ref.13 | |||||||||||||||||||
| Disulfide bond | 121 ↔ 189 | Ref.14 | ||||||||||||||||||||
Natural variations | ||||||||||||||||||||||
| Alternative sequence | 146 – 151 | 6 | Missing in isoform 2. | VSP_006311 | ||||||||||||||||||
| Natural variant | 66 | 1 | E → K in SMDP2; targeted abnormally to early endosomes and likely to result in a toxic gain of function. Ref.21 | VAR_036855 | ||||||||||||||||||
| Natural variant | 73 | 1 | I → T in SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli. Ref.16 Ref.18 Ref.19 | VAR_026753 | ||||||||||||||||||
| Natural variant | 116 | 1 | A → D in SMDP2. Ref.20 | VAR_026754 | ||||||||||||||||||
| Natural variant | 138 | 1 | N → T Influences susceptibility to RDS in premature infants. Ref.3 Ref.4 Ref.5 Ref.6 Ref.8 Ref.9 Ref.10 Ref.17 Corresponds to variant rs4715 [ dbSNP | Ensembl ]. | VAR_007453 | ||||||||||||||||||
| Natural variant | 167 | 1 | R → Q in SMDP2. Ref.16 Corresponds to variant rs34957318 [ dbSNP | Ensembl ]. | VAR_026755 | ||||||||||||||||||
| Natural variant | 186 | 1 | N → S Influences susceptibility to RDS in premature infants. Ref.4 Ref.5 Ref.6 Ref.8 Ref.9 Ref.10 Ref.17 Corresponds to variant rs1124 [ dbSNP | Ensembl ]. | VAR_016175 | ||||||||||||||||||
| Natural variant | 188 | 1 | L → Q in SMDP2. Ref.15 | VAR_026756 | ||||||||||||||||||
Experimental info | ||||||||||||||||||||||
| Sequence conflict | 14 | 1 | P → PPCQ in AAB60332. Ref.4 | |||||||||||||||||||
| Sequence conflict | 45 | 1 | L → S in AAB60332. Ref.4 | |||||||||||||||||||
| Sequence conflict | 65 – 67 | 3 | TEM → FPQ in AAB60332. Ref.4 | |||||||||||||||||||
Secondary structure | ||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||
| Beta strand | 91 – 96 | 6 | ||||||||||||||||||||
| Turn | 97 – 99 | 3 | ||||||||||||||||||||
| Beta strand | 100 – 105 | 6 | ||||||||||||||||||||
| Turn | 106 – 109 | 4 | ||||||||||||||||||||
| Beta strand | 110 – 116 | 7 | ||||||||||||||||||||
| Beta strand | 121 – 125 | 5 | ||||||||||||||||||||
| Helix | 134 – 143 | 10 | ||||||||||||||||||||
| Helix | 183 – 189 | 7 | ||||||||||||||||||||
| Beta strand | 194 – 197 | 4 | ||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Low molecular weight human pulmonary surfactant protein (SP5): isolation, characterization, and cDNA and amino acid sequences." Warr R.G., Hawgood S., Buckley D.I., Crisp T.M., Schilling J., Benson B.J., Ballard P.L., Clements J.A., White R.T. Proc. Natl. Acad. Sci. U.S.A. 84:7915-7919(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "cDNA, deduced polypeptide structure and chromosomal assignment of human pulmonary surfactant proteolipid, SPL(pVal)." Glasser S.W., Korfhagen T.R., Weaver T.E., Clark J.C., Pilot-Matias T., Meuth J., Fox J.L., Whitsett J.A. J. Biol. Chem. 263:9-12(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 26-42. |
| [3] | "Two SP-C genes encoding human pulmonary surfactant proteolipid." Glasser S.W., Korfhagen T.R., Perme C.M., Pilot-Matias T.J., Kister S.E., Whitsett J.A. J. Biol. Chem. 263:10326-10331(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, VARIANT THR-138. |
| [4] | "Human surfactant protein-C: genetic homogeneity and expression in RDS; comparison with other species." Hatzis D., Deiter G., deMello D.E., Floros J. Exp. Lung Res. 20:57-72(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS THR-138 AND SER-186. |
| [5] | Frerking I., Stevens P., Pison U., Witt H. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS THR-138 AND SER-186. |
| [6] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-138 AND SER-186. Tissue: Lung. |
| [7] | "A computer system platform used to predict novel genes." Yu Z., Zheng Z., Tang T., Fu Y. Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [8] | SeattleSNPs variation discovery resource Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-138 AND SER-186. |
| [9] | "DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. Lander E.S.Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS THR-138 AND SER-186. |
| [10] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS THR-138 AND SER-186. |
| [11] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lung. |
| [12] | "Hydrophobic 3.7 kDa surfactant polypeptide: structural characterization of the human and bovine forms." Johansson J., Joernvall H., Eklund A., Christensen N., Robertson B., Curstedt T. FEBS Lett. 232:61-64(1988) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 24-58. |
| [13] | "Hydrophobic surfactant-associated polypeptides: SP-C is a lipopeptide with two palmitoylated cysteine residues, whereas SP-B lacks covalently linked fatty acyl groups." Curstedt T., Johansson J., Persson P., Eklund A., Robertson B., Loewenadler B., Joernvall H. Proc. Natl. Acad. Sci. U.S.A. 87:2985-2989(1990) [PubMed] [Europe PMC] [Abstract] Cited for: PALMITOYLATION AT CYS-28 AND CYS-29. |
| [14] | "High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C." Willander H., Askarieh G., Landreh M., Westermark P., Nordling K., Keranen H., Hermansson E., Hamvas A., Nogee L.M., Bergman T., Saenz A., Casals C., Aqvistg J., Jornvall H., Berglund H., Presto J., Knight S.D., Johansson J. Proc. Natl. Acad. Sci. U.S.A. 109:2325-2329(2012) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 59-197, DISULFIDE BOND. |
| [15] | "Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred." Thomas A.Q., Lane K., Phillips J.A. III, Prince M., Markin C., Speer M., Schwartz D.A., Gaddipati R., Marney A., Johnson J., Roberts R., Haines J., Stahlman M., Loyd J.E. Am. J. Respir. Crit. Care Med. 165:1322-1328(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMDP2 GLN-188. |
| [16] | "Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease." Tredano M., Griese M., Brasch F., Schumacher S., de Blic J., Marque S., Houdayer C., Elion J., Couderc R., Bahuau M. Am. J. Med. Genet. A 126:18-26(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SMDP2 THR-73 AND GLN-167. |
| [17] | "Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease." Lahti M., Marttila R., Hallman M. Eur. J. Hum. Genet. 12:312-320(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS THR-138 AND SER-186, INVOLVEMENT IN RDS. |
| [18] | "Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene." Brasch F., Griese M., Tredano M., Johnen G., Ochs M., Rieger C., Mulugeta S., Mueller K.M., Bahuau M., Beers M.F. Eur. Respir. J. 24:30-39(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMDP2 THR-73, CHARACTERIZATION OF VARIANT SMDP2 THR-73. |
| [19] | "Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation." Percopo S., Cameron H.S., Nogee L.M., Pettinato G., Montella S., Santamaria F. Eur. Respir. J. 24:1072-1073(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMDP2 THR-73. |
| [20] | "Hydroxychloroquine and surfactant protein C deficiency." Rosen D.M., Waltz D.A. N. Engl. J. Med. 352:207-208(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SURFACTANT PROTEIN C DEFICIENCY ASP-116. |
| [21] | "Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene." Stevens P.A., Pettenazzo A., Brasch F., Mulugeta S., Baritussio A., Ochs M., Morrison L., Russo S.J., Beers M.F. Pediatr. Res. 57:89-98(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SMDP2 LYS-66, CHARACTERIZATION OF VARIANT SMDP2 LYS-66. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. | ||||||||||||
| IPI | IPI00006707. IPI00218499. | ||||||||||||
| PIR | LNHUC. A28801. | ||||||||||||
| RefSeq | NP_001165828.1. NM_001172357.1. NP_001165881.1. NM_001172410.1. NP_003009.2. NM_003018.3. | ||||||||||||
| UniGene | Hs.1074. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | P11686. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| STRING | 9606.ENSP00000316152. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P11686. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 131425. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | P11686. | ||||||||||||
| PRIDE | P11686. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 6440. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000318561; ENSP00000316152; ENSG00000168484. | ||||||||||||
| GeneID | 6440. | ||||||||||||
| KEGG | hsa:6440. | ||||||||||||
| UCSC | uc003xax.4. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 6440. | ||||||||||||
| GeneCards | GC08P022019. | ||||||||||||
| H-InvDB | HIX0007365. | ||||||||||||
| HGNC | HGNC:10802. SFTPC. | ||||||||||||
| HPA | CAB009313. HPA010928. | ||||||||||||
| MIM | 178620. gene. 267450. phenotype. 610913. phenotype. | ||||||||||||
| neXtProt | NX_P11686. | ||||||||||||
| Orphanet | 217566. 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. 217563. Neonatal acute respiratory distress with surfactant metabolism deficiency. | ||||||||||||
| PharmGKB | PA35714. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG47102. | ||||||||||||
| HOGENOM | HOG000115746. | ||||||||||||
| HOVERGEN | HBG000160. | ||||||||||||
| InParanoid | P11686. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P11686. | ||||||||||||
| Bgee | P11686. | ||||||||||||
| CleanEx | HS_SFTPC. | ||||||||||||
| Genevestigator | P11686. | ||||||||||||
| GermOnline | ENSG00000168484. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR007084. BRICHOS_dom. IPR001729. Pulm_surfact_AP. IPR018051. SP-C_palmitoylation_site. IPR015091. Surfactant_protein_propep. [Graphical view] | ||||||||||||
| Pfam | PF04089. BRICHOS. 1 hit. PF08999. SP_C-Propep. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM01039. BRICHOS. 1 hit. SM00019. SF_P. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS50869. BRICHOS. 1 hit. PS00341. SURFACT_PALMYTOYL. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | SFTPC. human. | ||||||||||||
| GenomeRNAi | 6440. | ||||||||||||
| NextBio | 25027. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | PSPC_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P11686 Secondary accession number(s): A6XNE4 Q7Z5D0 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
