SFTPA1 (surfactant protein A1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
178630 10798 ENSG00000122852
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Interstitial lung disease 1 Pathogenic rs2132140058, rs2132140607, rs1215316727, rs2132139965 RCV001780090
RCV001780091
RCV001784078
RCV001784079
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Interstitial lung disease 2 Uncertain significance rs372941810 RCV002284275
Proximal 16p11.2 microdeletion syndrome Uncertain significance rs1589239722 RCV002254435
Pulmonary fibrosis, idiopathic, susceptibility to Benign rs4253527 RCV000014093
Respiratory distress associated with prematurity Uncertain significance rs4253528 RCV000853224
Show/Hide Text Mining Associations (68)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 14742308
Adenocarcinoma Associate 24168624, 25514367, 9060993
Adenocarcinoma of Lung Associate 12698189, 32855221
Allergic Fungal Sinusitis Associate 26521790
Anemia Hemolytic Associate 2346784
Arthritis Psoriatic Associate 16489709
Arthritis Rheumatoid Stimulate 16489709
Asthma Associate 16884531, 17407567
Asthma Stimulate 23794464
Autoimmune Diseases Associate 24098648, 33267857