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    SFTPD surfactant protein D [ Homo sapiens (human) ]

    Gene ID: 6441, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SFTPDprovided by HGNC
    Official Full Name
    surfactant protein Dprovided by HGNC
    Primary source
    HGNC:HGNC:10803
    See related
    Ensembl:ENSG00000133661 MIM:178635; AllianceGenome:HGNC:10803
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SP-D; PSP-D; SFTP4; COLEC7
    Summary
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Restricted expression toward lung (RPKM 293.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See SFTPD in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (79937740..79982383, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80806973..80851624, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81697496..81708861, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene protein geranylgeranyltransferase type I subunit beta pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3648 Neighboring gene BMS1 pseudogene 21 Neighboring gene mannose binding lectin 1, pseudogene Neighboring gene DPY19L2 pseudogene 5 Neighboring gene zinc and ring finger 2 pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:81754777-81755008 Neighboring gene C1D nuclear receptor corepressor pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Comprehensive characterisation of pulmonary and serum surfactant protein D in COPD. Winkler C, et al. Respir Res, 2011 Mar 11. PMID 21396106, Free PMC Article
    2. SP-D polymorphisms and the risk of COPD. Shakoori TA, et al. Dis Markers, 2012. PMID 22846212, Free PMC Article
    3. Association between genetic variations in surfactant protein d and emphysema, interstitial pneumonia, and lung cancer in a Japanese population. Ishii T, et al. COPD, 2012 Aug. PMID 22509983
    4. A study of collectin genes in spontaneous preterm birth reveals an association with a common surfactant protein D gene polymorphism. Karjalainen MK, et al. Pediatr Res, 2012 Jan. PMID 22289856
    5. Involvement of surfactant protein D in emphysema revealed by genetic association study. Ishii T, et al. Eur J Hum Genet, 2012 Feb. PMID 21934714, Free PMC Article

    See all (278) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HIV infection impairs the host response to Mycobacterium tuberculosis infection by altering surfactant protein D function in the human lung alveolar mucosa.
      Title: HIV infection impairs the host response to Mycobacterium tuberculosis infection by altering surfactant protein D function in the human lung alveolar mucosa.
    2. Multivalent, calcium-independent binding of surfactant protein A and D to sulfated glycosaminoglycans of the alveolar epithelial glycocalyx.
      Title: Multivalent, calcium-independent binding of surfactant protein A and D to sulfated glycosaminoglycans of the alveolar epithelial glycocalyx.
    3. Surfactant protein D prevents mucin overproduction in airway goblet cells via SIRPalpha.
      Title: Surfactant protein D prevents mucin overproduction in airway goblet cells via SIRPα.
    4. Early life surfactant protein-D levels in bronchoalveolar lavage fluids of extremely preterm neonates.
      Title: Early life surfactant protein-D levels in bronchoalveolar lavage fluids of extremely preterm neonates.
    5. Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population.
      Title: Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population.
    6. Human surfactant protein D facilitates SARS-CoV-2 pseudotype binding and entry in DC-SIGN expressing cells, and downregulates spike protein induced inflammation.
      Title: Human surfactant protein D facilitates SARS-CoV-2 pseudotype binding and entry in DC-SIGN expressing cells, and downregulates spike protein induced inflammation.
    7. Surfactant protein D is a biomarker of influenza-related pediatric lung injury.
      Title: Surfactant protein D is a biomarker of influenza-related pediatric lung injury.
    8. Role of serum surfactant protein-D as a prognostic predictor in fibrotic hypersensitivity pneumonitis.
      Title: Role of serum surfactant protein-D as a prognostic predictor in fibrotic hypersensitivity pneumonitis.
    9. Surfactant protein D: a predictor for severity of community-acquired pneumonia in children.
      Title: Surfactant protein D: a predictor for severity of community-acquired pneumonia in children.
    10. Association of serum surfactant protein D and SFTPD gene variants with asthma in Danish children, adolescents, and young adults.
      Title: Association of serum surfactant protein D and SFTPD gene variants with asthma in Danish children, adolescents, and young adults.
    Submit: New GeneRIF Correction See all GeneRIFs (226)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env SP-D inhibits HIV-1 gp120-CD4 interaction and acts like cell entry inhibitor of HIV-1 PubMed
    env Surfactant protein D (SP-D) binds to HIV-1 gp120 and inhibits HIV infectivity; the binding of SP-D to gp120 depends on glycosylation of gp120 and multimerization of SP-D PubMed
    env SP-D enhances the binding of HIV-1 gp120 to iMDDCs and induces viral uptake and transfer of HIV from iMDDCs to CD4+ T cells PubMed
    env The binding of sDC-SIGN to HIV-1 gp120 is significantly inhibited by SP-D in a dose-dependent manner, indicating an overlap with the binding site for SP-D PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 binds to surfactant protein D in a dose- and calcium-dependent manner PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 binds to surfactant protein D in a dose- and calcium-dependent manner PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in defense response to bacterium TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in innate immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in lung alveolus development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in macrophage chemotaxis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of T cell proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of interleukin-2 production TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of phagocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in reactive oxygen species metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cytokine production NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in surfactant homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in surfactant homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle TAS
    Traceable Author Statement
    more info
    		  
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endocytic vesicle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pulmonary surfactant-associated protein D
    Names
    collectin-7
    lung surfactant protein D
    pulmonary surfactant apoprotein
    surfactant-associated protein, pulmonary 4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042218.1 RefSeqGene

      Range
      5001..16366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003019.5 → NP_003010.4  pulmonary surfactant-associated protein D precursor

      See identical proteins and their annotated locations for NP_003010.4

      Status: REVIEWED

      Source sequence(s)
      BC022318, BI820265, BM985387
      Consensus CDS
      CCDS7362.1
      UniProtKB/Swiss-Prot
      P35247, Q5T0M3, Q6FH08, Q86YK9, Q8TCD8, Q9UCJ2, Q9UCJ3
      Related
      ENSP00000361366.3, ENST00000372292.8
      Conserved Domains (3) summary
      cd03591
      Location:262 → 375
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:130 → 201
      Collagen; Collagen triple helix repeat (20 copies)
      pfam09006
      Location:224 → 269
      Surfac_D-trimer; Lung surfactant protein D coiled-coil trimerization

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      79937740..79982383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540087.2 → XP_011538389.1  pulmonary surfactant-associated protein D isoform X1

      See identical proteins and their annotated locations for XP_011538389.1

      UniProtKB/Swiss-Prot
      P35247, Q5T0M3, Q6FH08, Q86YK9, Q8TCD8, Q9UCJ2, Q9UCJ3
      Conserved Domains (3) summary
      cd03591
      Location:262 → 375
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:130 → 201
      Collagen; Collagen triple helix repeat (20 copies)
      pfam09006
      Location:224 → 269
      Surfac_D-trimer; Lung surfactant protein D coiled-coil trimerization

    2. XM_011540088.3 → XP_011538390.1  pulmonary surfactant-associated protein D isoform X2

      See identical proteins and their annotated locations for XP_011538390.1

      Conserved Domains (3) summary
      cd03591
      Location:223 → 336
      CLECT_collectin_like; C-type lectin-like domain (CTLD) of the type found in human collectins including lung surfactant proteins A and D, mannose- or mannan binding lectin (MBL), and CL-L1 (collectin liver 1)
      pfam01391
      Location:73 → 132
      Collagen; Collagen triple helix repeat (20 copies)
      pfam09006
      Location:185 → 230
      Surfac_D-trimer; Lung surfactant protein D coiled-coil trimerization

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      80806973..80851624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366588.1 → XP_054222563.1  pulmonary surfactant-associated protein D isoform X1

    2. XM_054366589.1 → XP_054222564.1  pulmonary surfactant-associated protein D isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35247.3 GenPept UniProtKB/Swiss-Prot:P35247

    Gene LinkOut

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