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SFTPA1 surfactant protein A1 [ Homo sapiens (human) ]

Gene ID: 653509, updated on 3-Apr-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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Location:
10q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (79610939..79615455)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80480108..80484632)
105.20220307 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
  • 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. SFTPA1 is a potential prognostic biomarker correlated with immune cell infiltration and response to immunotherapy in lung adenocarcinoma. Yuan L, et al. Cancer Immunol Immunother, 2022 Feb. PMID 34181042, Free PMC Article
  2. Association between SP-A rs1965708 gene polymorphism and allergic rhinitis risk in Chinese population. Yin X, et al. J Clin Lab Anal, 2021 Jul. PMID 34028080, Free PMC Article
  3. Sex-Specific Regulation of Gene Expression Networks by Surfactant Protein A (SP-A) Variants in Alveolar Macrophages in Response to Klebsiella pneumoniae. Thorenoor N, et al. Front Immunol, 2020. PMID 32670284, Free PMC Article
  4. Recent progress on surfactant protein A: cellular function in lung and kidney disease development. King SD, et al. Am J Physiol Cell Physiol, 2020 Aug 1. PMID 32639871, Free PMC Article
  5. Surfactant protein A expression and distribution in human lung samples from smokers with or without chronic obstructive pulmonary disease in China. Liu Z, et al. Medicine (Baltimore), 2020 Feb. PMID 32049827, Free PMC Article

See all (203) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immunoregulatory function of SP-A.
    Title: Immunoregulatory function of SP-A.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Differences in the alveolar macrophage toponome in humanized SP-A1 and SP-A2 transgenic mice.
    Title: Differences in the alveolar macrophage toponome in humanized SP-A1 and SP-A2 transgenic mice.
  10. Sex-Specific Regulation of Gene Expression Networks by Surfactant Protein A (SP-A) Variants in Alveolar Macrophages in Response to Klebsiella pneumoniae.
    Title: Sex-Specific Regulation of Gene Expression Networks by Surfactant Protein A (SP-A) Variants in Alveolar Macrophages in Response to Klebsiella pneumoniae.
Submit: New GeneRIF Correction See all GeneRIFs (156)

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)

Genotypes

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_2023_10

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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