SFTPA1 (surfactant protein A1)

2010-01-01  

Identity

HGNC
LOCATION
10q22.3
LOCUSID
ALIAS
COLEC4,PSAP,PSP-A,PSPA,SFTP1,SFTPA1B,SP-A,SP-A1,SP-A1

Other Information

Locus ID:

NCBI: 653509
MIM: 178630
HGNC: 10798
Ensembl: ENSG00000122852

Variants:

dbSNP: 653509
ClinVar: 653509
TCGA: ENSG00000122852
COSMIC: SFTPA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122852ENST00000398636Q8IWL2
ENSG00000122852ENST00000398636A0A024QZP2
ENSG00000122852ENST00000419470Q8IWL2
ENSG00000122852ENST00000428376Q8IWL2
ENSG00000122852ENST00000428376A0A024QZP2
ENSG00000122852ENST00000429958A0A0C4DG36

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
PertussisKEGGko05133
PertussisKEGGhsa05133
Metabolism of proteinsREACTOMER-HSA-392499
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Diseases of metabolismREACTOMER-HSA-5668914
Diseases associated with surfactant metabolismREACTOMER-HSA-5687613
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)REACTOMER-HSA-5688890
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)REACTOMER-HSA-5688849
Surfactant metabolismREACTOMER-HSA-5683826
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)REACTOMER-HSA-5683678

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
122441992002Role of surfactant proteins A, D, and C1q in the clearance of apoptotic cells in vivo and in vitro: calreticulin and CD91 as a common collectin receptor complex.129
128170252003Direct binding of Toll-like receptor 2 to zymosan, and zymosan-induced NF-kappa B activation and TNF-alpha secretion are down-regulated by lung collectin surfactant protein A.95
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
136803612003Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.61
136803612003Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.61
117247722002Surfactant protein A inhibits peptidoglycan-induced tumor necrosis factor-alpha secretion in U937 cells and alveolar macrophages by direct interaction with toll-like receptor 2.51
167546822006Surfactant protein A directly interacts with TLR4 and MD-2 and regulates inflammatory cellular response. Importance of supratrimeric oligomerization.49
122441462002Pulmonary surfactant protein A up-regulates activity of the mannose receptor, a pattern recognition receptor expressed on human macrophages.48
158945572005Differences in the translation efficiency and mRNA stability mediated by 5'-UTR splice variants of human SP-A1 and SP-A2 genes.48
172203082007Surfactant protein A2 (SP-A2) variants expressed in CHO cells stimulate phagocytosis of Pseudomonas aeruginosa more than do SP-A1 variants.44

Citation

Dessen P

SFTPA1 (surfactant protein A1)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51251/sftpa1