Human Gene SFTPB (ENST00000409383.6) from GENCODE V44
  Description: Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter. (from UniProt P07988)
RefSeq Summary (NM_198843): This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. CCDS Note: The coding region has been updated to start at a downstream in-frame start codon that is supported by conservation data.
Gencode Transcript: ENST00000409383.6
Gencode Gene: ENSG00000168878.19
Transcript (Including UTRs)
   Position: hg38 chr2:85,658,290-85,668,741 Size: 10,452 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr2:85,661,473-85,668,183 Size: 6,711 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:85,658,290-85,668,741)mRNA (may differ from genome)Protein (381 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PSPB_HUMAN
DESCRIPTION: RecName: Full=Pulmonary surfactant-associated protein B; Short=SP-B; AltName: Full=18 kDa pulmonary-surfactant protein; AltName: Full=6 kDa protein; AltName: Full=Pulmonary surfactant-associated proteolipid SPL(Phe); Flags: Precursor;
FUNCTION: Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter.
SUBUNIT: Homodimer; disulfide-linked.
SUBCELLULAR LOCATION: Secreted, extracellular space, surface film.
DISEASE: Defects in SFTPB are the cause of pulmonary surfactant metabolism dysfunction type 1 (SMDP1) [MIM:265120]; also called pulmonary alveolar proteinosis due to surfactant protein B deficiency. A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid- Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
DISEASE: Genetic variations in SFTPB are a cause of susceptibility to respiratory distress syndrome in premature infants (RDS) [MIM:267450]. RDS is a lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'. Note=A variation Ile to Thr at position 131 influences the association between specific alleles of SFTPA1 and respiratory distress syndrome in premature infants.
MISCELLANEOUS: Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).
SIMILARITY: Contains 1 saposin A-type domain.
SIMILARITY: Contains 3 saposin B-type domains.
SEQUENCE CAUTION: Sequence=AAA88099.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SFTPB";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/sftpb/";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: SFTPB
Diseases sorted by gene-association score: surfactant metabolism dysfunction, pulmonary, 1* (1550), sftpb-related pulmonary surfactant metabolism dysfunction* (500), pulmonary surfactant metabolism dysfunction* (76), respiratory failure (48), respiratory distress syndrome in premature infants* (45), pulmonary alveolar proteinosis (33), lung disease (31), newborn respiratory distress syndrome (27), bronchopulmonary dysplasia (19), congenital pulmonary alveolar proteinosis (18), tracheal agenesis (18), pulmonary sclerosing hemangioma (17), acute respiratory distress syndrome (16), sclerosing hemangioma (14), interstitial lung disease (12), paraquat lung (12), pulmonary immaturity (11), toxic pneumonitis (11), surfactant dysfunction (10), neonatal respiratory failure (10), hemangioma of lung (9), meconium aspiration syndrome (8), hemangioma (7), respiratory syncytial virus infectious disease (7), congenital diaphragmatic hernia (7), patent ductus arteriosus (6), diaphragm disease (5), hermansky-pudlak syndrome 1 (4), pneumonia (4), lung cancer susceptibility 3 (2), pulmonary fibrosis, idiopathic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2214.77 RPKM in Lung
Total median expression: 2241.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.40136-0.290 Picture PostScript Text
3' UTR -175.90585-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003119 - SapA
IPR007856 - SapB_1
IPR008138 - SapB_2
IPR008373 - Saposin
IPR011001 - Saposin-like
IPR008139 - SaposinB

Pfam Domains:
PF02199 - Saposin A-type domain
PF05184 - Saposin-like type B, region 1
PF03489 - Saposin-like type B, region 2

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1DFW - IR 1KMR - NMR 1RG3 - NMR 1RG4 - NMR 1SSZ - IR 2DWF - NMR 2JOU - NMR


ModBase Predicted Comparative 3D Structure on P07988
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001664 G-protein coupled receptor binding
GO:0008047 enzyme activator activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0007585 respiratory gaseous exchange
GO:0009887 animal organ morphogenesis
GO:0043085 positive regulation of catalytic activity
GO:0044267 cellular protein metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005764 lysosome
GO:0005771 multivesicular body
GO:0005789 endoplasmic reticulum membrane
GO:0042599 lamellar body
GO:0045334 clathrin-coated endocytic vesicle
GO:0097208 alveolar lamellar body
GO:0097486 multivesicular body lumen


-  Descriptions from all associated GenBank mRNAs
  LQ270749 - Sequence 77 from Patent WO2016071350.
LQ270751 - Sequence 79 from Patent WO2016071350.
AB439563 - Homo sapiens SFTPB mRNA for surfactant pulmonary-associated protein B, partial sequence, clone: SFTPB_HU_transcript_1.
AB439564 - Homo sapiens SFTPB mRNA for surfactant pulmonary-associated protein B, partial sequence, clone: SFTPB_HU_new transcipt_1.
DQ317589 - Homo sapiens truncated surfactant pulmonary-associated protein B mRNA, partial cds, alternatively spliced.
AK303817 - Homo sapiens cDNA FLJ57475 complete cds, highly similar to Pulmonary surfactant-associated protein B precursor.
JD194629 - Sequence 175653 from Patent EP1572962.
JD537266 - Sequence 518290 from Patent EP1572962.
JD558251 - Sequence 539275 from Patent EP1572962.
JD564318 - Sequence 545342 from Patent EP1572962.
JD340818 - Sequence 321842 from Patent EP1572962.
J02761 - Human pulmonary surfactant-associated protein B (SP-B) mRNA, complete cds.
BC032785 - Homo sapiens surfactant protein B, mRNA (cDNA clone MGC:45314 IMAGE:5179408), complete cds.
M16764 - Human pulmonary surfactant-associated proteolipid (SPL(Phe)) mRNA, 3' end.
AB439565 - Homo sapiens SFTPB mRNA for surfactant pulmonary-associated protein B, partial sequence, clone: SFTPB_HU_transcript_2.
AB439566 - Homo sapiens SFTPB mRNA for surfactant pulmonary-associated protein B, partial sequence, clone: SFTPB_HU_new transcript_2.
M19097 - Human pulmonary surfactant apoprotein 18 (SP 18) mRNA, 3' end.
AK314947 - Homo sapiens cDNA, FLJ95859, highly similar to Homo sapiens surfactant, pulmonary-associated protein B (SFTPB), mRNA.
HQ447860 - Synthetic construct Homo sapiens clone IMAGE:100071207; CCSB009818_03 surfactant, pulmonary-associated protein B (SFTPB) gene, encodes complete protein.
KJ904557 - Synthetic construct Homo sapiens clone ccsbBroadEn_13951 SFTPB gene, encodes complete protein.
CU689538 - Synthetic construct Homo sapiens gateway clone IMAGE:100019163 5' read SFTPB mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P07988 (Reactome details) participates in the following event(s):

R-HSA-5684864 NAPSA, CTSH, PGA3-5 cleave pro-SFTPB
R-HSA-6791016 SFTPB binds itself
R-HSA-5686335 CSF2RA:CSF2RB binds SFTPs
R-HSA-5686359 SFTPs translocate from extracellular region to clathrin-coated vesicle
R-HSA-5683826 Surfactant metabolism
R-HSA-5688354 Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
R-HSA-392499 Metabolism of proteins
R-HSA-5687613 Diseases associated with surfactant metabolism
R-HSA-5668914 Diseases of metabolism
R-HSA-5688031 Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000409383.1, ENST00000409383.2, ENST00000409383.3, ENST00000409383.4, ENST00000409383.5, LQ270751, P07988, PSPB_HUMAN, Q96R04, SFTP3, uc002sqh.1, uc002sqh.2, uc002sqh.3, uc002sqh.4, uc002sqh.5
UCSC ID: ENST00000409383.6
RefSeq Accession: NM_198843
Protein: P07988 (aka PSPB_HUMAN)
CCDS: CCDS1983.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.