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FLASH GENE

Symbol

SFTPA1

contributors: mct - updated : 07-05-2019

HGNC name	surfactant, pulmonary-associated protein A1
HGNC id	10798

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q22.3      Physical location : 81.370.694 - 81.375.198
Synonym name	pulmonary surfactant apoprotein
	35 kDa pulmonary surfactant-associated protein
	alveolar proteinosis protein
	collectin-4
Synonym symbol(s)	SFTP1@, SP-A, SP-A1, PSAP, COLEC4, SFTPA1B, FLJ50593, FLJ51913, FLJ61144, FLJ77898, FLJ79095, FLJ99559, MGC133365, MGC198590

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	4.52 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	four different classes of transcripts alternatively spliced at their 5' end (McCormick)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001164646 6 - 2080 NP_001158118 - 199 - 2018 29621540 NM_001164644 6 - 2186 NP_001158116 - 248 - 2018 29621540 NM_001164645 6 - 2072 NP_001158117 - 214 - 2018 29621540 NM_005411 6 - 2215 NP_005402 - 248 - 2018 29621540 NM_001093770 6 - 2216 NP_001087239 - 263 - 2018 29621540 NM_001164647 5 - 2159 NP_001158119 - 248 - 2018 29621540

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system prostate       Respiratory lung         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Respiratory alveolar cell type 1 Homo sapiens Respiratory alveolar cell type II Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains

N terminal segment required for the association of trimeric subunits into higher oligomers, phospholipid aggregation and specific inhibition of surfactant secretion, collagen like lectin

secondary structure

SPA2 and SPA1

conjugated

GlycoP

mono polymer

homomer , trimer

HOMOLOGY

interspecies

homolog to murine Sftpa

Homologene

FAMILY

collectin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	playing an important role in innate immunity
	involved in host defense and inflammatory processes of the lung
	also involved in the surface tension lowering ability of pulmonary surfactant
	plays an important role in the lung during bacterial infection regulating protease and antiprotease activity
	stimulates the release of neutrophil chemotactic factor by alveolar type II cells, and this effect is mediated by the receptor for SFTPA1 specifically expressed by these cells
	most abundant pulmonary soluble collectin, that modulates innate and adaptive immunity of the lung, partially via its direct effects on alveolar macrophages (AM)
	novel role for SFTPA1 in modulating endolysosomal trafficking via RAB7A in primary alveolar macrophages (AM)
	SFTPA1, SFTPA2 plays a key role in innate lung host defense, in surfactant-related functions, and in parturition
	plays critical roles in the innate immune system and surfactant homeostasis of the lung
	SFTPA1 levels may be important to maintain surfactant function in the presence of high cholesterol within surfactant
	fetal lungs produce signals to initiate labor when mature and NCOA1/NCOA2-dependent production of SFTPA1B and platelet-activating factor (PAF) is crucial for this process
	associated with host defense in the lung, and contributes to the pathogenesis of chronic obstructive pulmonary disease (COPD)
	innate host defense molecules, surfactant protein A1 (SFTPA1), and SFTPA2 differentially affect the function and proteome of the alveolar macrophages

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

inflammation

PATHWAY

metabolism

signaling

a component

component of a complex with SFTPA2 and SFTPD

INTERACTION

DNA

RNA

small molecule

protein	SFTPB
	in human fetal lung epithelial cells, SUV39H1 and SUV39H2 mRNA levels declined with cAMP induction of SFTPA1
	SFTPA1 protects lung epithelium from tissue injury caused by DEF103B
	LEP promotes fetal lung maturity and upregulates SFPTA1 expression in pulmonary alveoli type-II epithelial cells involving TTF1 activation

cell & other

surfactant-associated glycoprotein

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in idiopathic pulmonary fibrosis (IPF)

Susceptibility

to idiopathic pulmonary fibrosis to tuberculosis idiopathic interstitial pneumonia (IIP)

Variant & Polymorphism SNP	307A and 776T, increasing the risk of tuberculosis, in Ethiopia
	heterozygous single nucleotide variant Val178Met in the SFTPA1 gene is associated with IIP

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sftpa1 knock-in (Sftpa1-KI) mice that harbored the same mutation as patients spontaneously developed pulmonary fibrosis that was accelerated by influenza virus infection