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UniProtKB - P11686 (PSPC_HUMAN)

Protein

Pulmonary surfactant-associated protein C

Gene

SFTPC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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).

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • identical protein binding Source: IntAct
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processGaseous exchange

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		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)

SIGNOR Signaling Network Open Resource

More...SIGNORi		P11686

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pulmonary surfactant-associated protein C
Short name:
SP-C
Alternative name(s):
Pulmonary surfactant-associated proteolipid SPL(Val)
SP5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SFTPC
Synonyms:SFTP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000168484.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:10802 SFTPC

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		178620 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P11686

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs34957318EnsemblClinVar.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

DisGeNET

More...DisGeNETi		6440

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SFTPC

MalaCards human disease database

More...MalaCardsi		SFTPC
MIMi267450 phenotype
610913 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35714

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SFTPC

Domain mapping of disease mutations (DMDM)

More...DMDMi		131425

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_00000334771 – 231 PublicationAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003347824 – 58Pulmonary surfactant-associated protein CAdd BLAST35
PropeptideiPRO_000003347959 – 197Add BLAST139

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi28S-palmitoyl cysteine1 Publication1
Lipidationi29S-palmitoyl cysteine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi120 ↔ 1481 Publication
Disulfide bondi121 ↔ 1891 Publication

Keywords - PTMi

Disulfide bond, Lipoprotein, Palmitate

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P11686

PeptideAtlas

More...PeptideAtlasi		P11686

PRoteomics IDEntifications database

More...PRIDEi		P11686

ProteomicsDB human proteome resource

More...ProteomicsDBi		52799
52800 [P11686-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P11686

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P11686

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P11686

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000168484 Expressed in 185 organ(s), highest expression level in right lung

CleanEx database of gene expression profiles

More...CleanExi		HS_SFTPC

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P11686 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P11686 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA010928

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112338, 29 interactors

Database of interacting proteins

More...DIPi		DIP-61551N

Protein interaction database and analysis system

More...IntActi		P11686, 30 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000316152

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1197
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YADX-ray2.20A/B/C/D/E/F59-197[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P11686

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P11686

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini94 – 197BRICHOSPROSITE-ProRule annotationAdd BLAST104

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IY85 Eukaryota
ENOG41118MZ LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000115746

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG000160

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P11686

Database of Orthologous Groups

More...OrthoDBi		1323673at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P11686

TreeFam database of animal gene trees

More...TreeFami		TF337317

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007084 BRICHOS_dom
IPR001729 SP-C
IPR018051 SP-C_palmitoylation_site
IPR015091 Surfactant_protein_propep

The PANTHER Classification System

More...PANTHERi		PTHR10800 PTHR10800, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04089 BRICHOS, 1 hit
PF08999 SP_C-Propep, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01039 BRICHOS, 1 hit
SM00019 SF_P, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50869 BRICHOS, 1 hit
PS00341 SURFACT_PALMITOYL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTC9A0A0A0MTC9_HUMAN
Pulmonary surfactant-associated pro...
SFTPC
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JYF6C9JYF6_HUMAN
Pulmonary surfactant-associated pro...
SFTPC
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RI92E5RI92_HUMAN
Pulmonary surfactant-associated pro...
SFTPC
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RI64E5RI64_HUMAN
Pulmonary surfactant-associated pro...
SFTPC
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RHW5E5RHW5_HUMAN
Pulmonary surfactant-associated pro...
SFTPC
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RG20E5RG20_HUMAN
Pulmonary surfactant-associated pro...
SFTPC
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs34957318EnsemblClinVar.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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006311146 – 151Missing in isoform 2. 1 Publication6

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43722.1 [P11686-1]
CCDS55209.1 [P11686-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A28801 LNHUC

NCBI Reference Sequences

More...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

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.1074

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000318561; ENSP00000316152; ENSG00000168484

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6440

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6440

UCSC genome browser

More...UCSCi		uc003xax.5 human [P11686-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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, 29 interactors
DIPiDIP-61551N
IntActiP11686, 30 interactors
STRINGi9606.ENSP00000316152

PTM databases

iPTMnetiP11686
PhosphoSitePlusiP11686
SwissPalmiP11686

Polymorphism and mutation databases

BioMutaiSFTPC
DMDMi131425

Proteomic databases

PaxDbiP11686
PeptideAtlasiP11686
PRIDEiP11686
ProteomicsDBi52799
52800 [P11686-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6440
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6440
DisGeNETi6440
EuPathDBiHostDB:ENSG00000168484.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		SFTPC
GeneReviewsiSFTPC

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0007365
HGNCiHGNC:10802 SFTPC
HPAiHPA010928
MalaCardsiSFTPC
MIMi178620 gene
267450 phenotype
610913 phenotype
neXtProtiNX_P11686
Orphaneti217566 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
PharmGKBiPA35714

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IY85 Eukaryota
ENOG41118MZ LUCA
HOGENOMiHOG000115746
HOVERGENiHBG000160
InParanoidiP11686
OrthoDBi1323673at2759
PhylomeDBiP11686
TreeFamiTF337317

Enzyme and pathway databases

ReactomeiR-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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SFTPC human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Pulmonary_surfactant-associated_protein_C

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6440

Protein Ontology

More...PROi		PR:P11686

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000168484 Expressed in 185 organ(s), highest expression level in right lung
CleanExiHS_SFTPC
ExpressionAtlasiP11686 baseline and differential
GenevisibleiP11686 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPSPC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P11686
Secondary accession number(s): A6XNE4
, B2RE00, E9PGX3, P11687, Q12793, Q7Z5D0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: April 1, 1990
Last modified: January 16, 2019
This is version 193 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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
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