Human Gene SFTPD (ENST00000372292.8) from GENCODE V44
  Description: Homo sapiens surfactant protein D (SFTPD), mRNA. (from RefSeq NM_003019)
RefSeq Summary (NM_003019): The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015].
Gencode Transcript: ENST00000372292.8
Gencode Gene: ENSG00000133661.17
Transcript (Including UTRs)
   Position: hg38 chr10:79,937,740-79,949,105 Size: 11,366 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr10:79,937,852-79,946,659 Size: 8,808 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:79,937,740-79,949,105)mRNA (may differ from genome)Protein (375 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SFTPD_HUMAN
DESCRIPTION: RecName: Full=Pulmonary surfactant-associated protein D; Short=PSP-D; Short=SP-D; AltName: Full=Collectin-7; AltName: Full=Lung surfactant protein D; Flags: Precursor;
FUNCTION: Contributes to the lung's defense against inhaled microorganisms. May participate in the extracellular reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other alpha-glucosyl moieties.
SUBUNIT: Oligomeric complex of 4 set of homotrimers.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film.
PTM: The N-terminus is blocked.
PTM: Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates (By similarity).
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).
SIMILARITY: Belongs to the SFTPD family.
SIMILARITY: Contains 1 C-type lectin domain.
SIMILARITY: Contains 1 collagen-like domain.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/sftpd/";
WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=Pulmonary surfactant protein SP-D; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_228";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SFTPD
Diseases sorted by gene-association score: extrinsic allergic alveolitis (20), wilson-mikity syndrome (18), interstitial lung disease (17), chest wall lymphoma (16), acute interstitial pneumonia (16), pulmonary fibrosis (15), pulmonary alveolar proteinosis (14), aspergillosis (14), allergic bronchopulmonary aspergillosis (13), tracheal agenesis (12), lung disease (12), pneumonia (12), idiopathic interstitial pneumonia (11), pneumocystosis (10), collagen disease (10), systemic scleroderma (9), acute respiratory distress syndrome (9), pulmonary alveolar microlithiasis (8), pulmonary fibrosis, idiopathic (7), pulmonary sarcoidosis (7), eosinophilic pneumonia (7), invasive aspergillosis (7), avian influenza (7), pulmonary immaturity (7), pulmonary surfactant metabolism dysfunction (7), polymyositis (7), neonatal respiratory failure (6), pulmonary emphysema (6), respiratory failure (6), silicosis (6), connective tissue disease (3), cystic fibrosis (3), respiratory system disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 163.02 RPKM in Lung
Total median expression: 216.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.7043-0.179 Picture PostScript Text
3' UTR -33.40112-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001304 - C-type_lectin
IPR016186 - C-type_lectin-like
IPR018378 - C-type_lectin_CS
IPR016187 - C-type_lectin_fold
IPR008160 - Collagen
IPR023350 - Lung_SPD-like_multimerisation
IPR015097 - Surfac_D-trimer

Pfam Domains:
PF01391 - Collagen triple helix repeat (20 copies)
PF00059 - Lectin C-type domain
PF09006 - Lung surfactant protein D coiled-coil trimerisation

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1B08 - X-ray MuPIT 1M7L - NMR MuPIT 1PW9 - X-ray MuPIT 1PWB - X-ray MuPIT 2GGU - X-ray MuPIT 2GGX - X-ray MuPIT 2ORJ - X-ray MuPIT 2ORK - X-ray MuPIT 2OS9 - X-ray MuPIT 2RIA - X-ray MuPIT 2RIB - X-ray MuPIT 2RIC - X-ray MuPIT 2RID - X-ray MuPIT 2RIE - X-ray MuPIT 3DBZ - X-ray MuPIT 3G81 - X-ray MuPIT 3G83 - X-ray MuPIT 3G84 - X-ray MuPIT 3IKN - X-ray MuPIT 3IKP - X-ray MuPIT 3IKQ - X-ray MuPIT 3IKR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35247
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030246 carbohydrate binding
GO:0042802 identical protein binding

Biological Process:
GO:0001817 regulation of cytokine production
GO:0002224 toll-like receptor signaling pathway
GO:0002376 immune system process
GO:0006898 receptor-mediated endocytosis
GO:0007585 respiratory gaseous exchange
GO:0042130 negative regulation of T cell proliferation
GO:0042742 defense response to bacterium
GO:0043129 surfactant homeostasis
GO:0043152 induction of bacterial agglutination
GO:0044267 cellular protein metabolic process
GO:0045085 negative regulation of interleukin-2 biosynthetic process
GO:0045087 innate immune response
GO:0048246 macrophage chemotaxis
GO:0048286 lung alveolus development
GO:0050766 positive regulation of phagocytosis
GO:0050776 regulation of immune response
GO:0052405 negative regulation by host of symbiont molecular function
GO:0072593 reactive oxygen species metabolic process
GO:1905226 regulation of adhesion of symbiont to host epithelial cell

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005789 endoplasmic reticulum membrane
GO:0030139 endocytic vesicle
GO:0045334 clathrin-coated endocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  KJ897546 - Synthetic construct Homo sapiens clone ccsbBroadEn_06940 SFTPD gene, encodes complete protein.
KR711215 - Synthetic construct Homo sapiens clone CCSBHm_00021250 SFTPD (SFTPD) mRNA, encodes complete protein.
X65018 - H.sapiens mRNA for lung surfactant protein D.
BC022318 - Homo sapiens surfactant protein D, mRNA (cDNA clone MGC:22626 IMAGE:4696173), complete cds.
JD341077 - Sequence 322101 from Patent EP1572962.
JD231573 - Sequence 212597 from Patent EP1572962.
CR541948 - Homo sapiens full open reading frame cDNA clone RZPDo834B1234D for gene SFTPD, surfactant, pulmonary-associated protein D; complete cds, without stopcodon.
AB528655 - Synthetic construct DNA, clone: pF1KB6569, Homo sapiens SFTPD gene for surfactant protein D, without stop codon, in Flexi system.
JD322579 - Sequence 303603 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P35247 (Reactome details) participates in the following event(s):

R-HSA-8961021 SFTPD binds with itself to form SFTPD 12mer
R-HSA-5686335 CSF2RA:CSF2RB binds SFTPs
R-HSA-5686359 SFTPs translocate from extracellular region to clathrin-coated vesicle
R-HSA-5687284 DMBT1 binds SFTPD 12mer, SFTPAs
R-HSA-5683826 Surfactant metabolism
R-HSA-5687868 Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
R-HSA-392499 Metabolism of proteins
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
R-HSA-5687613 Diseases associated with surfactant metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: COLEC7, ENST00000372292.1, ENST00000372292.2, ENST00000372292.3, ENST00000372292.4, ENST00000372292.5, ENST00000372292.6, ENST00000372292.7, NM_003019, P35247, PSPD, Q5T0M3, Q6FH08, Q86YK9, Q8TCD8, Q9UCJ2, Q9UCJ3, SFTP4, SFTPD_HUMAN, uc001kbh.1, uc001kbh.2, uc001kbh.3, uc001kbh.4, uc001kbh.5
UCSC ID: ENST00000372292.8
RefSeq Accession: NM_003019
Protein: P35247 (aka SFTPD_HUMAN or PSPD_HUMAN)
CCDS: CCDS7362.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.