Gene Gene information from NCBI Gene database.
Entrez ID 653509
Gene name Surfactant protein A1
Gene symbol SFTPA1
Synonyms (NCBI Gene)
COLEC4ILD1PSAPPSP-APSPASFTP1SFTPA1BSP-ASP-A1SP-A1 betaSP-A1 deltaSP-A1 epsilonSP-A1 gammaSPASPA1
Chromosome 10
Chromosome location 10q22.3
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
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT546959 hsa-miR-19b-3p PAR-CLIP 21572407
MIRT546958 hsa-miR-19a-3p PAR-CLIP 21572407
MIRT546957 hsa-miR-301a-3p PAR-CLIP 21572407
MIRT546956 hsa-miR-454-3p PAR-CLIP 21572407
MIRT546955 hsa-miR-3666 PAR-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NFKB1 Unknown 12040027
NKX2-1 Unknown 12040027
RELA Unknown 12040027
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005319 Function Lipid transporter activity TAS 2995821
GO:0005515 Function Protein binding IPI 10101009, 15845487
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
178630 10798 ENSG00000122852
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWL2
Protein name Pulmonary surfactant-associated protein A1 (PSP-A) (PSPA) (SP-A) (SP-A1) (35 kDa pulmonary surfactant-associated protein) (Alveolar proteinosis protein) (Collectin-4)
Protein function In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00059 Lectin_C 144 248 Lectin C-type domain Domain
Sequence
MWLCPLALNLILMAASGAVCEVKDVCVGSPGIPGTPGSHGLPGRDGRDGLKGDPGPPGPM
GPPGEMPCPPGNDGLPGAPGIPGECGEKGEPGERGPPGLPAHLDEELQATLHDFRHQILQ
TRGALSLQGSIMTVGEKVFSSNGQSITFDAIQEACARAGGRIAVPRNPEENEAIASFVKK
YNTYAYVGLTEGPSPGDFRYSDGTPVNYTNWYRGEPAGRGKEQCVEMYTDGQWNDRNCLY
SRLTICEF
Sequence length 248
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phagosome
Pertussis
  Toll Like Receptor 4 (TLR4) Cascade
Toll Like Receptor TLR1:TLR2 Cascade
Signal regulatory protein family interactions
Surfactant metabolism
Regulation of TLR by endogenous ligand
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Interstitial lung disease 1 Pathogenic rs2132140058, rs2132140607, rs1215316727, rs2132139965 RCV001780090
RCV001780091
RCV001784078
RCV001784079
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRONCHOPULMONARY DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHROMOSOME 16P11.2 DELETION SYNDROME, 593-KB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15996209, 17237283, 25514367
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26792177, 28089356, 29956575, 9375708
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 23406594
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 30076539
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 12892713
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 2346784 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28130491
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 16489709 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 16489709 Stimulate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 16884531, 21784968
★☆☆☆☆
Found in Text Mining only