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SFTPA1 surfactant protein A1 [ Homo sapiens (human) ]

Gene ID: 653509, updated on 5-Nov-2017
Official Symbol
SFTPA1provided by HGNC
Official Full Name
surfactant protein A1provided by HGNC
Primary source
HGNC:HGNC:10798
See related
Ensembl:ENSG00000122852 MIM:178630; Vega:OTTHUMG00000018565
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; PSAP; PSPA; SP-A; SPA1; PSP-A; SFTP1; SP-A1; COLEC4; SFTPA1B
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
Location:
10q22.3
Exon count:
8
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (79610939..79615443)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81370651..81375199)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene mannose-binding lectin family member 3, pseudogene Neighboring gene surfactant protein A3, pseudogene Neighboring gene uncharacterized LOC105378385 Neighboring gene uncharacterized LOC107987149 Neighboring gene uncharacterized LOC101929506

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • ABC transporter disorders, organism-specific biosystem (from REACTOME)
    ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
  • Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3), organism-specific biosystem (from REACTOME)
    Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3), organism-specific biosystemATP-binding cassette sub-family A member 3 (ABCA3) is thought to play a role in the formation of pulmonary surfactant by transporting lipids such as cholesterol into lamellar bodies (LBs) in alveolar...
  • Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4), organism-specific biosystem (from REACTOME)
    Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4), organism-specific biosystemSurfactant catabolism by alveolar macrophages plays a small but critical part in surfactant recycling and metabolism. Upon ligand binding, granulocyte-macrophage colony-stimulating factor receptor (G...
  • Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5), organism-specific biosystem (from REACTOME)
    Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5), organism-specific biosystemSurfactant catabolism by alveolar macrophages plays a small but critical part in surfactant recycling and metabolism. Upon ligand binding, granulocyte-macrophage colony-stimulating factor receptor (G...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with surfactant metabolism, organism-specific biosystem (from REACTOME)
    Diseases associated with surfactant metabolism, organism-specific biosystemThe reactions annotated here describe genetic defects in genes regulating surfactant homeostasis which are associated with severe acute and chronic lung diseases in newborns and older infants (Whitse...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
    Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
  • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    FOXA1 transcription factor network, organism-specific biosystem
    FOXA1 transcription factor network
  • Lung fibrosis, organism-specific biosystem (from WikiPathways)
    Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Pertussis, organism-specific biosystem (from KEGG)
    Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Pertussis, conserved biosystem (from KEGG)
    Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Surfactant metabolism, organism-specific biosystem (from REACTOME)
    Surfactant metabolism, organism-specific biosystemThe alveolar region of the lung creates an extensive epithelial surface that mediates the transfer of oxygen and carbon dioxide required for respiration after birth. Type I epithelial cells form the ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
lipid transporter activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
opsonization IMP
Inferred from Mutant Phenotype
more info
PubMed 
respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
clathrin-coated endocytic vesicle TAS
Traceable Author Statement
more info
 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
lamellar body TAS
Traceable Author Statement
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pulmonary surfactant-associated protein A1
Names
35 kDa pulmonary surfactant-associated protein
SP-A1 beta
SP-A1 delta
SP-A1 epsilon
SP-A1 gamma
alveolar proteinosis protein
collectin-4
surfactant protein A1 variant AB'D' 6A
surfactant protein A1 variant AB'D' 6A2
surfactant protein A1 variant AB'D' 6A3
surfactant protein A1 variant AB'D' 6A4
surfactant protein A1 variant ACD' 6A
surfactant protein A1 variant ACD' 6A2
surfactant protein A1 variant ACD' 6A3
surfactant protein A1 variant ACD' 6A4
surfactant protein A1 variant AD' 6A
surfactant protein A1 variant AD' 6A2
surfactant protein A1 variant AD' 6A3
surfactant protein A1 variant AD' 6A4
surfactant protein A1B
surfactant, pulmonary-associated protein A1A
surfactant, pulmonary-associated protein A1B

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_001093770.2NP_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/Swiss-Prot
    Q8IWL2
    Related
    ENSP00000397082.2, OTTHUMP00000019930, ENST00000419470.6, OTTHUMT00000048958
    Conserved Domains (2) summary
    cd03591
    Location:151263
    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:43115
    Collagen; Collagen triple helix repeat (20 copies)
  2. NM_001164644.1NP_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
    Q8IWL2
    UniProtKB/TrEMBL
    A0A024QZP2
    Conserved Domains (2) summary
    cd03591
    Location:136248
    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:28100
    Collagen; Collagen triple helix repeat (20 copies)
  3. NM_001164645.1NP_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:102214
    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:4366
    Collagen; Collagen triple helix repeat (20 copies)
  4. NM_001164646.1NP_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
    Conserved Domains (2) summary
    cd03591
    Location:87199
    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:2851
    Collagen; Collagen triple helix repeat (20 copies)
  5. NM_001164647.1NP_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
    Q8IWL2
    UniProtKB/TrEMBL
    A0A024QZP2
    Related
    ENSP00000411102.2, ENST00000428376.6
    Conserved Domains (2) summary
    cd03591
    Location:136248
    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:28100
    Collagen; Collagen triple helix repeat (20 copies)
  6. NM_005411.4NP_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
    Q8IWL2
    UniProtKB/TrEMBL
    A0A024QZP2
    Related
    ENSP00000381633.3, ENST00000398636.7
    Conserved Domains (2) summary
    cd03591
    Location:136248
    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:28100
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

    Range
    79610939..79615443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717953.2XP_006718016.1  pulmonary surfactant-associated protein A1 isoform X1

    See identical proteins and their annotated locations for XP_006718016.1

    UniProtKB/Swiss-Prot
    Q8IWL2
    Conserved Domains (2) summary
    cd03591
    Location:151263
    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:43115
    Collagen; Collagen triple helix repeat (20 copies)
  2. XM_005270062.4XP_005270119.1  pulmonary surfactant-associated protein A1 isoform X2

    See identical proteins and their annotated locations for XP_005270119.1

    UniProtKB/Swiss-Prot
    Q8IWL2
    UniProtKB/TrEMBL
    A0A024QZP2
    Conserved Domains (2) summary
    cd03591
    Location:136248
    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:28100
    Collagen; Collagen triple helix repeat (20 copies)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    81653316..81657819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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