ENSG00000122852


Homo sapiens

Features
Gene ID: ENSG00000122852
  
Biological name :SFTPA1
  
Synonyms : Q8IWL2 / SFTPA1 / surfactant protein A1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q22.3
Gene start: 79610939
Gene end: 79615455
  
Corresponding Affymetrix probe sets: 223678_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411102
Ensembl peptide - ENSP00000395527
Ensembl peptide - ENSP00000397082
Ensembl peptide - ENSP00000401649
Ensembl peptide - ENSP00000381633
NCBI entrez gene - 653509     See in Manteia.
OMIM - 178630
RefSeq - XM_006717953
RefSeq - NM_001093770
RefSeq - NM_001164644
RefSeq - NM_001164645
RefSeq - NM_001164646
RefSeq - NM_001164647
RefSeq - NM_005411
RefSeq - XM_005270062
RefSeq Peptide - NP_001087239
RefSeq Peptide - NP_001158116
RefSeq Peptide - NP_001158118
RefSeq Peptide - NP_001158119
RefSeq Peptide - NP_005402
RefSeq Peptide - NP_001158117
swissprot - A0A0C4DG36
swissprot - Q8IWL2
swissprot - A0A024QZP2
Ensembl - ENSG00000122852
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hbl1ENSDARG00000068221Danio rerio
 hbl2ENSDARG00000094681Danio rerio
 hbl4ENSDARG00000054202Danio rerio
 mbl2ENSDARG00000068220Danio rerio
 SFTPA1ENSGALG00000002496Gallus gallus
 SFTPA2ENSGALG00000002503Gallus gallus
 Sftpa1ENSMUSG00000021789Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IWL1 / SFTPA2 / surfactant protein A2ENSG0000018530391
SFTPD / P35247 / surfactant protein DENSG0000013366139
MBL2 / P11226 / mannose binding lectin 2ENSG0000016547133
Q9Y6Z7 / COLEC10 / collectin subfamily member 10ENSG0000018437428
Q9BWP8 / COLEC11 / collectin subfamily member 11ENSG0000011800426


Protein motifs (from Interpro)
Interpro ID Name
 IPR001304  C-type lectin-like
 IPR008160  Collagen triple helix repeat
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR018378  C-type lectin, conserved site
 IPR033990  Collectin, C-type lectin-like domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002224 toll-like receptor signaling pathway TAS
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007585 respiratory gaseous exchange IEA
 biological_processGO:0008228 opsonization IMP
 biological_processGO:0044267 cellular protein metabolic process TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0042599 lamellar body TAS
 cellular_componentGO:0045334 clathrin-coated endocytic vesicle TAS
 molecular_functionGO:0005319 lipid transporter activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030246 carbohydrate binding IEA


Pathways (from Reactome)
Pathway description
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)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002020 Gastroesophageal reflux 
Show

 HP:0002110 Bronchiectasis 
Show

 HP:0002206 Pulmonary fibrosis 
Show

 HP:0002875 Exertional dyspnea 
Show

 HP:0010444 Pulmonary insufficiency "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators]
Show

 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
Show

 HP:0025175 Honeycomb lung "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." []
Show

 HP:0025179 Ground-glass opacification "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." []
Show

 HP:0025390 Reticular pattern on pulmonary HRCT "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773]
Show

 HP:0030830 Rales "Abnormal breath sounds characterized by discontinuous clicking or rattling." [UToronto:chum]
Show

 HP:0100759 Clubbing of fingers "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000154589 LY96 / Q9Y6Y9 / lymphocyte antigen 96  / reaction / complex
 ENSG00000136869 TLR4 / O00206 / toll like receptor 4  / reaction / complex
 ENSG00000136026 CKAP4 / Q07065 / cytoskeleton associated protein 4  / complex / reaction
 ENSG00000198053 SIRPA / P78324 / signal regulatory protein alpha  / reaction / complex
 ENSG00000185303 Q8IWL1 / SFTPA2 / surfactant protein A2  / - / complex
 ENSG00000122852 Q8IWL2 / SFTPA1 / surfactant protein A1  / - / complex
 ENSG00000187908 DMBT1 / Q9UGM3 / deleted in malignant brain tumors 1  / reaction / complex
 ENSG00000174125 TLR1 / Q15399 / toll like receptor 1  / reaction / complex
 ENSG00000137462 TLR2 / O60603 / toll like receptor 2  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr