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SFTPA1 surfactant protein A1 [ Homo sapiens (human) ]

Gene ID: 653509, updated on 21-Dec-2019

Summary

Official Symbol
SFTPA1provided by HGNC
Official Full Name
surfactant protein A1provided by HGNC
Primary source
HGNC:HGNC:10798
See related
Ensembl:ENSG00000122852 MIM:178630
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; 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

Genomic context

See SFTPA1 in Genome Data Viewer
Location:
10q22.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (79610939..79615455)
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 long intergenic non-protein coding RNA 2679 Neighboring gene uncharacterized LOC101929506

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid transporter activity TAS
Traceable Author Statement
more info
PubMed 
monosaccharide binding IBA
Inferred from Biological aspect of Ancestor
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
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lamellar body TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001093770.3NP_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, ENST00000419470.6
    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_001164644.2NP_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_001164645.2NP_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_001164646.2NP_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_005411.5NP_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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    79610939..79615455
    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_005270062.5XP_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)
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