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    SFTPA1 surfactant protein A1 [ Homo sapiens (human) ]

    Gene ID: 653509, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SFTPA1provided by HGNC
    Official Full Name
    surfactant protein A1provided by HGNC
    Primary source
    HGNC:HGNC:10798
    See related
    Ensembl:ENSG00000122852 MIM:178630; AllianceGenome:HGNC:10798
    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
    SPA; ILD1; PSAP; PSPA; SP-A; SPA1; PSP-A; SFTP1; SP-A1; COLEC4; SFTPA1B; SP-A1 beta; SP-A1 delta; SP-A1 gamma; SP-A1 epsilon
    Summary
    This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
    Annotation information
    Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly. The HUGO Gene Nomenclature Committee (HGNC) retired the symbol SFTPA1B, because its sequence is redundant with SFTPA1. [13 Feb 2013]
    Expression
    Restricted expression toward lung (RPKM 4554.3) See more
    Orthologs
    all
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    Genomic context

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    See SFTPA1 in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (79610939..79615455)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80480108..80484632)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81370695..81375211)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene surfactant protein A3, pseudogene Neighboring gene uncharacterized LOC124902469 Neighboring gene long intergenic non-protein coding RNA 2679 Neighboring gene uncharacterized LOC124900288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81443548-81444475 Neighboring gene BEN domain containing 3 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Human surfactant protein A inhibits SARS-CoV-2 infectivity and alleviates lung injury in a mouse infection model.
      Title: Human surfactant protein A inhibits SARS-CoV-2 infectivity and alleviates lung injury in a mouse infection model.
    3. Immunoregulatory function of SP-A.
      Title: Immunoregulatory function of SP-A.
    4. Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway.
      Title: Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway.
    5. Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
      Title: Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
    6. SFTPA1 is a potential prognostic biomarker correlated with immune cell infiltration and response to immunotherapy in lung adenocarcinoma.
      Title: SFTPA1 is a potential prognostic biomarker correlated with immune cell infiltration and response to immunotherapy in lung adenocarcinoma.
    7. Association between SP-A rs1965708 gene polymorphism and allergic rhinitis risk in Chinese population.
      Title: Association between SP-A rs1965708 gene polymorphism and allergic rhinitis risk in Chinese population.
    8. Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions.
      Title: Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions.
    9. Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
      Title: Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer.
    10. Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
      Title: Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (158)

    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

    Associated conditions

    Description Tests
    Interstitial lung disease 1
    MedGen: C5562021 OMIM: 619611 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Studies with dendritic cells (DCs) demonstrate that SP-A enhances the binding of gp120 to DCs, the uptake of viral particles, and the transfer of virus from DCs to CD4+ T cells PubMed
    env Competition assays with CD4 and mAbs suggest that SP-A inhibits infectivity by occlusion of the CD4-binding site on gp120 PubMed
    env Surfactant protein A (SP-A) binds to HIV-1 gp120 through the high mannose structures on gp120 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

    Clone Names

    • FLJ50593, FLJ51913, FLJ61144, FLJ77898, FLJ79095, FLJ99559, MGC133365, MGC198590

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in opsonization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamellar body TAS
    Traceable Author Statement
    more info
    		  
    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 A1
    Names
    35 kDa pulmonary surfactant-associated protein
    alveolar proteinosis protein
    collectin-4
    surfactant protein A1B
    surfactant, pulmonary-associated protein A1A
    surfactant, pulmonary-associated protein A1B

    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_021189.1 RefSeqGene

      Range
      5001..9505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001093770.3 → NP_001087239.2  pulmonary surfactant-associated protein A1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001087239.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and includes an additional segment in the 5' coding region, compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK290703, BM996243, BX248123
      Consensus CDS
      CCDS44444.2
      UniProtKB/TrEMBL
      B2R7Z9, E3VLD0
      Related
      ENSP00000397082.2, ENST00000419470.6
      Conserved Domains (2) summary
      cd03591
      Location:151 → 263
      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:43 → 115
      Collagen; Collagen triple helix repeat (20 copies)

    2. NM_001164644.2 → NP_001158116.1  pulmonary surfactant-associated protein A1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001158116.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      BM996243, BX248123, DA588383, M13686
      Consensus CDS
      CCDS44445.1
      UniProtKB/Swiss-Prot
      A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19
      UniProtKB/TrEMBL
      B2R7Z9, E3VLD0
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    3. NM_001164645.2 → NP_001158117.1  pulmonary surfactant-associated protein A1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, includes an additional segment in the 5' coding region, and lacks an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (3) is overall shorter but has a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK298002, BM996243, BX248123
      UniProtKB/TrEMBL
      B4DNP6
      Conserved Domains (2) summary
      cd03591
      Location:102 → 214
      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:43 → 66
      Collagen; Collagen triple helix repeat (20 copies)

    4. NM_001164646.2 → NP_001158118.1  pulmonary surfactant-associated protein A1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an in-frame segment in the central coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
      Source sequence(s)
      BM996243, BX248123, DA588383
      UniProtKB/TrEMBL
      B7Z4Y9
      Conserved Domains (2) summary
      cd03591
      Location:87 → 199
      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:28 → 51
      Collagen; Collagen triple helix repeat (20 copies)

    5. NM_001164647.1 → NP_001158119.1  pulmonary surfactant-associated protein A1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001158119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      BC111570, BM996243, BX248123, DA588383
      Consensus CDS
      CCDS44445.1
      UniProtKB/Swiss-Prot
      A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19
      UniProtKB/TrEMBL
      B2R7Z9, E3VLD0
      Related
      ENSP00000411102.2, ENST00000428376.6
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    6. NM_005411.5 → NP_005402.3  pulmonary surfactant-associated protein A1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005402.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      BI820937, BM996243, BX248123, DA588383
      Consensus CDS
      CCDS44445.1
      UniProtKB/Swiss-Prot
      A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19
      UniProtKB/TrEMBL
      B2R7Z9, E3VLD0
      Related
      ENSP00000381633.3, ENST00000398636.8
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    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
      79610939..79615455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270062.6 → XP_005270119.1  pulmonary surfactant-associated protein A1 isoform X2

      See identical proteins and their annotated locations for XP_005270119.1

      UniProtKB/Swiss-Prot
      A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19
      UniProtKB/TrEMBL
      B2R7Z9, E3VLD0
      Conserved Domains (2) summary
      cd03591
      Location:136 → 248
      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:28 → 100
      Collagen; Collagen triple helix repeat (20 copies)

    2. XM_047425668.1 → XP_047281624.1  pulmonary surfactant-associated protein A1 isoform X1

    3. XM_047425674.1 → XP_047281630.1  pulmonary surfactant-associated protein A1 isoform X2

      UniProtKB/Swiss-Prot
      A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19

    4. XM_047425672.1 → XP_047281628.1  pulmonary surfactant-associated protein A1 isoform X1

    5. XM_047425670.1 → XP_047281626.1  pulmonary surfactant-associated protein A1 isoform X1

    6. XM_047425669.1 → XP_047281625.1  pulmonary surfactant-associated protein A1 isoform X1

    7. XM_047425667.1 → XP_047281623.1  pulmonary surfactant-associated protein A1 isoform X1

    8. XM_047425673.1 → XP_047281629.1  pulmonary surfactant-associated protein A1 isoform X1

    9. XM_047425671.1 → XP_047281627.1  pulmonary surfactant-associated protein A1 isoform X1

    10. XM_047425675.1 → XP_047281631.1  pulmonary surfactant-associated protein A1 isoform X2

      UniProtKB/Swiss-Prot
      A8K3T8, B7ZW50, E3VLD8, E3VLD9, E3VLE0, E3VLE1, G5E9J3, Q14DV4, Q5RIR5, Q5RIR7, Q6PIT0, Q8IWL2, Q8TC19

    11. XM_006717953.3 → XP_006718016.1  pulmonary surfactant-associated protein A1 isoform X1

      See identical proteins and their annotated locations for XP_006718016.1

      UniProtKB/TrEMBL
      B2R7Z9, E3VLD0
      Conserved Domains (2) summary
      cd03591
      Location:151 → 263
      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:43 → 115
      Collagen; Collagen triple helix repeat (20 copies)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      80480108..80484632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366641.1 → XP_054222616.1  pulmonary surfactant-associated protein A1 isoform X2

      UniProtKB/TrEMBL
      K4N2H0

    2. XM_054366635.1 → XP_054222610.1  pulmonary surfactant-associated protein A1 isoform X1

    3. XM_054366629.1 → XP_054222604.1  pulmonary surfactant-associated protein A1 isoform X3

    4. XM_054366634.1 → XP_054222609.1  pulmonary surfactant-associated protein A1 isoform X1

    5. XM_054366630.1 → XP_054222605.1  pulmonary surfactant-associated protein A1 isoform X4

    6. XM_054366633.1 → XP_054222608.1  pulmonary surfactant-associated protein A1 isoform X1

    7. XM_054366637.1 → XP_054222612.1  pulmonary surfactant-associated protein A1 isoform X5

    8. XM_054366632.1 → XP_054222607.1  pulmonary surfactant-associated protein A1 isoform X1

    9. XM_054366638.1 → XP_054222613.1  pulmonary surfactant-associated protein A1 isoform X5

    10. XM_054366628.1 → XP_054222603.1  pulmonary surfactant-associated protein A1 isoform X3

    11. XM_054366631.1 → XP_054222606.1  pulmonary surfactant-associated protein A1 isoform X4

    12. XM_054366643.1 → XP_054222618.1  pulmonary surfactant-associated protein A1 isoform X2

      UniProtKB/TrEMBL
      K4N2H0

    13. XM_054366636.1 → XP_054222611.1  pulmonary surfactant-associated protein A1 isoform X1

    14. XM_054366639.1 → XP_054222614.1  pulmonary surfactant-associated protein A1 isoform X5

    15. XM_054366640.1 → XP_054222615.1  pulmonary surfactant-associated protein A1 isoform X5

    16. XM_054366642.1 → XP_054222617.1  pulmonary surfactant-associated protein A1 isoform X2

      UniProtKB/TrEMBL
      K4N2H0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWL2.2 GenPept UniProtKB/Swiss-Prot:Q8IWL2

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