SFTPA1 (surfactant protein A1)

Gene

• Entrez ID: 653509
• Gene name: Surfactant protein A1
• Gene symbol: SFTPA1
• Synonyms: COLEC4, PSAP, PSP-A, PSPA, SFTP1, SFTPA1B, SP-A, SP-A1, SP-A1 beta, SP-A1 delta, SP-A1 epsilon, SP-A1 gamma, SPA, SPA1
• 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 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT546941	hsa-miR-3591-5p	PAR-CLIP	21572407
MIRT546942	hsa-miR-4473	PAR-CLIP	21572407
MIRT546943	hsa-miR-548aw	PAR-CLIP	21572407
MIRT546944	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT546945	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT546946	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT546947	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT546948	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT546949	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT546950	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT546951	hsa-miR-4295	PAR-CLIP	21572407
MIRT546952	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT546953	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT546954	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT546955	hsa-miR-3666	PAR-CLIP	21572407
MIRT546956	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT546957	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT546958	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546959	hsa-miR-19b-3p	PAR-CLIP	21572407

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	12040027
NKX2-1	Unknown	12040027
RELA	Unknown	12040027

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002224	Process	Toll-like receptor signaling pathway	TAS
GO:0005319	Function	Lipid transporter activity	TAS	2995821
GO:0005515	Function	Protein binding	IPI	10101009, 15845487
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005771	Component	Multivesicular body	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005791	Component	Rough endoplasmic reticulum	IBA	21873635
GO:0006869	Process	Lipid transport	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0008228	Process	Opsonization	IMP	21123169
GO:0030246	Function	Carbohydrate binding	IEA
GO:0042599	Component	Lamellar body	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045334	Component	Clathrin-coated endocytic vesicle	TAS

Other IDs

• MIM: 178630
• HGNC: 10798
• e!Ensembl: ENSG00000122852

Protein

• UniProt ID: 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 MYO18A/SP-R210 on alveolar macrophages (By similarity). ; (Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169).
• 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

Pathways

KEGG:

Phagosome
Pertussis

Reactome:

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 name	Disease term	References
	Bronchiectasis
	Gastroesophageal reflux disease
	Honeycomb lung
	Pulmonary Fibrosis
	Idiopathic Pulmonary Fibrosis	22884059, 13680361
	Familial Idiopathic Pulmonary Fibrosis	22884059
	Hamman-Rich syndrome	13680361