LOCUS       NM_000542               3550 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens surfactant protein B (SFTPB), transcript variant 1,
            mRNA.
ACCESSION   NM_000542
VERSION     NM_000542.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3550)
  AUTHORS   Fishchuk,L., Rossokha,Z., Pokhylko,V., Cherniavska,Y., Popova,O.,
            Vershyhora,V., Kovtun,S. and Gorovenko,N.
  TITLE     SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as
            potential clinical biomarkers for personalized treatment strategy
            selection in patients with severe COVID-19 pneumonia
  JOURNAL   Respir Investig 61 (1), 103-109 (2023)
   PUBMED   36460583
  REMARK    GeneRIF: SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as
            potential clinical biomarkers for personalized treatment strategy
            selection in patients with severe COVID-19 pneumonia.
REFERENCE   2  (bases 1 to 3550)
  AUTHORS   Yang,X., Yang,P., Zhang,J., Yang,Y., Xiong,M., Shi,F., Li,N. and
            Jin,Y.
  TITLE     Silica nanoparticle exposure inhibits surfactant protein A and B in
            A549 cells through ROS-mediated JNK/c-Jun signaling pathway
  JOURNAL   Environ Toxicol 37 (9), 2291-2301 (2022)
   PUBMED   35689653
  REMARK    GeneRIF: Silica nanoparticle exposure inhibits surfactant protein A
            and B in A549 cells through ROS-mediated JNK/c-Jun signaling
            pathway.
REFERENCE   3  (bases 1 to 3550)
  AUTHORS   Shao,B., Snell-Bergeon,J.K., Pyle,L.L., Thomas,K.E., de Boer,I.H.,
            Kothari,V., Segrest,J., Davidson,W.S., Bornfeldt,K.E. and
            Heinecke,J.W.
  TITLE     Pulmonary surfactant protein B carried by HDL predicts incident CVD
            in patients with type 1 diabetes
  JOURNAL   J Lipid Res 63 (4), 100196 (2022)
   PUBMED   35300983
  REMARK    GeneRIF: Pulmonary surfactant protein B carried by HDL predicts
            incident CVD in patients with type 1 diabetes.
REFERENCE   4  (bases 1 to 3550)
  AUTHORS   Huang,H., Pan,J., Spielberg,D.R., Hanchard,N.A., Scott,D.A.,
            Burrage,L.C., Dai,H., Murdock,D., Rosenfeld,J.A., Mohammad,A.,
            Huang,T., Lindsey,A.G., Kim,H., Chen,J., Ramu,A., Morrison,S.A.,
            Dawson,Z.D., Hu,A.Z., Tycksen,E., Silverman,G.A., Baldridge,D.,
            Wambach,J.A., Pak,S.C., Brody,S.L. and Schedl,T.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     A dominant negative variant of RAB5B disrupts maturation of
            surfactant protein B and surfactant protein C
  JOURNAL   Proc Natl Acad Sci U S A 119 (6) (2022)
   PUBMED   35121658
  REMARK    GeneRIF: A dominant negative variant of RAB5B disrupts maturation
            of surfactant protein B and surfactant protein C.
REFERENCE   5  (bases 1 to 3550)
  AUTHORS   Chaiworapongsa,T., Hong,J.S., Hull,W.M., Romero,R. and
            Whitsett,J.A.
  TITLE     Amniotic fluid concentration of surfactant proteins in
            intra-amniotic infection
  JOURNAL   J Matern Fetal Neonatal Med 21 (9), 663-670 (2008)
   PUBMED   18828060
  REMARK    GeneRIF: Intra-amniotic infection was associated with an increased
            amniotic fluid concentration of SP-B in patients who received
            antenatal corticosteroids within 7 days prior to amniocentesis.
REFERENCE   6  (bases 1 to 3550)
  AUTHORS   Woodworth,B.A., Wood,R., Bhargave,G., Cohen,N.A., Baatz,J.E. and
            Schlosser,R.J.
  TITLE     Surfactant protein B detection and gene expression in chronic
            rhinosinusitis
  JOURNAL   Laryngoscope 117 (7), 1296-1301 (2007)
   PUBMED   17507829
  REMARK    GeneRIF: This is the first study to detect and characterize SP-B in
            human sinus mucosa. Furthermore, SP-B is significantly up-regulated
            in cystic fibrosis chronic rhinosinusitis.
REFERENCE   7  (bases 1 to 3550)
  AUTHORS   Voorhout,W.F., Veenendaal,T., Haagsman,H.P., Weaver,T.E.,
            Whitsett,J.A., van Golde,L.M. and Geuze,H.J.
  TITLE     Intracellular processing of pulmonary surfactant protein B in an
            endosomal/lysosomal compartment
  JOURNAL   Am J Physiol 263 (4 Pt 1), L479-L486 (1992)
   PUBMED   1415726
REFERENCE   8  (bases 1 to 3550)
  AUTHORS   Yu,S.H. and Possmayer,F.
  TITLE     Effect of pulmonary surfactant protein B (SP-B) and calcium on
            phospholipid adsorption and squeeze-out of phosphatidylglycerol
            from binary phospholipid monolayers containing
            dipalmitoylphosphatidylcholine
  JOURNAL   Biochim Biophys Acta 1126 (1), 26-34 (1992)
   PUBMED   1606172
REFERENCE   9  (bases 1 to 3550)
  AUTHORS   Johansson,J., Jornvall,H. and Curstedt,T.
  TITLE     Human surfactant polypeptide SP-B. Disulfide bridges, C-terminal
            end, and peptide analysis of the airway form
  JOURNAL   FEBS Lett 301 (2), 165-167 (1992)
   PUBMED   1568474
REFERENCE   10 (bases 1 to 3550)
  AUTHORS   Moore,K.J., D'Amore-Bruno,M.A., Korfhagen,T.R., Glasser,S.W.,
            Whitsett,J.A., Jenkins,N.A. and Copeland,N.G.
  TITLE     Chromosomal localization of three pulmonary surfactant protein
            genes in the mouse
  JOURNAL   Genomics 12 (2), 388-393 (1992)
   PUBMED   1346779
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012454.8 and J02761.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000542.4.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.205295.1,
                                           DRR138524.23628.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000519937.7/ ENSP00000428719.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC012454.8         60359-60368         c
            11-1307             J02761.1           8-1304
            1308-1859           AC012454.8         51174-51725         c
            1860-2000           J02761.1           1857-1997
            2001-3550           AC012454.8         49483-51032         c
FEATURES             Location/Qualifiers
     source          1..3550
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..3550
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="surfactant protein B"
                     /db_xref="GeneID:6439"
                     /db_xref="HGNC:HGNC:10801"
                     /db_xref="MIM:178640"
     exon            1..83
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1162
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 6 kDa protein; 18 kDa pulmonary-surfactant
                     protein; pulmonary surfactant-associated proteolipid
                     SPL(Phe)"
                     /codon_start=1
                     /product="pulmonary surfactant-associated protein B
                     isoform 1 precursor"
                     /protein_id="NP_000533.4"
                     /db_xref="CCDS:CCDS1983.3"
                     /db_xref="GeneID:6439"
                     /db_xref="HGNC:HGNC:10801"
                     /db_xref="MIM:178640"
                     /translation="MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLE
                     QALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQDTMRKFLEQECNV
                     LPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPL
                     PKPLRDPLPDPLLDKLVLPVLPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRI
                     QAMIPKGALAVAVAQVCRVVPLVAGGICQCLAERYSVILLDTLLGRMLPQLVCRLVLR
                     CSMDDSAGPRSPTGEWLPRDSECHLCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREK
                     CKQFVEQHTPQLLTLVPRGWDAHTTCQALGVCGTMSSPLQCIHSPDL"
     exon            84..211
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            212..283
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            284..409
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            410..598
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            599..688
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            689..872
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1018
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1099
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1181
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..3550
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2579..2584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="hexamer: AACAAG"
     polyA_site      2609
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="major polyA site"
     regulatory      3159..3164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="hexamer: ATTAAA"
     polyA_site      3185
                     /gene="SFTPB"
                     /gene_synonym="PSP-B; SFTB3; SFTP3; SMDP1; SP-B"
                     /note="major polyA site"
ORIGIN      
        1 aggctgcaga ggtgccatgg ctgagtcaca cctgctgcag tggctgctgc tgctgctgcc
       61 cacgctctgt ggcccaggca ctgctgcctg gaccacctca tccttggcct gtgcccaggg
      121 ccctgagttc tggtgccaaa gcctggagca agcattgcag tgcagagccc tagggcattg
      181 cctacaggaa gtctggggac atgtgggagc cgatgaccta tgccaagagt gtgaggacat
      241 cgtccacatc cttaacaaga tggccaagga ggccattttc caggacacga tgaggaagtt
      301 cctggagcag gagtgcaacg tcctcccctt gaagctgctc atgccccagt gcaaccaagt
      361 gcttgacgac tacttccccc tggtcatcga ctacttccag aaccagactg actcaaacgg
      421 catctgtatg cacctgggcc tgtgcaaatc ccggcagcca gagccagagc aggagccagg
      481 gatgtcagac cccctgccca aacctctgcg ggaccctctg ccagaccctc tgctggacaa
      541 gctcgtcctc cctgtgctgc ccggggccct ccaggcgagg cctgggcctc acacacagga
      601 tctctccgag cagcaattcc ccattcctct cccctattgc tggctctgca gggctctgat
      661 caagcggatc caagccatga ttcccaaggg tgcgctagct gtggcagtgg cccaggtgtg
      721 ccgcgtggta cctctggtgg cgggcggcat ctgccagtgc ctggctgagc gctactccgt
      781 catcctgctc gacacgctgc tgggccgcat gctgccccag ctggtctgcc gcctcgtcct
      841 ccggtgctcc atggatgaca gcgctggccc aaggtcgccg acaggagaat ggctgccgcg
      901 agactctgag tgccacctct gcatgtccgt gaccacccag gccgggaaca gcagcgagca
      961 ggccatacca caggcaatgc tccaggcctg tgttggctcc tggctggaca gggaaaagtg
     1021 caagcaattt gtggagcagc acacgcccca gctgctgacc ctggtgccca ggggctggga
     1081 tgcccacacc acctgccagg ccctcggggt gtgtgggacc atgtccagcc ctctccagtg
     1141 tatccacagc cccgaccttt gatgagaact cagctgtcca gctgcaaagg aaaagccaag
     1201 tgagacgggc tctgggacca tggtgaccag gctcttcccc tgctccctgg ccctcgccag
     1261 ctgccaggct gaaaagaagc ctcagctccc acaccgccct cctcaccgcc cttcctcggc
     1321 agtcacttcc actggtggac cacgggcccc cagccctgtg tcggccttgt ctgtctcagc
     1381 tcaaccacag tctgacacca gagcccactt ccatcctctc tggtgtgagg cacagcgagg
     1441 gcagcatctg gaggagctct gcagcctcca cacctaccac gacctcccag ggctgggctc
     1501 aggaaaaacc agccactgct ttacaggaca gggggttgaa gctgagcccc gcctcacacc
     1561 cacccccatg cactcaaaga ttggatttta cagctacttg caattcaaaa ttcagaagaa
     1621 taaaaaatgg gaacatacag aactctaaaa gatagacatc agaaattgtt aagttaagct
     1681 ttttcaaaaa atcagcaatt ccccagcgta gtcaagggtg gacactgcac gctctggcat
     1741 gatgggatgg cgaccgggca agctttcttc ctcgagatgc tctgctgctt gagagctatt
     1801 gctttgttaa gatataaaaa ggggtttctt tttgtctttc tgtaaggtgg acttccagct
     1861 tttgattgaa agtcctaggg tgattctatt tctgctgtga tttatctgct gaaagctcag
     1921 ctggggttgt gcaagctagg gacccattcc tgtgtaatac aatgtctgca ccaatgctaa
     1981 taaagtccta ttctctttta tgagaaagaa aaagacaccg tcctttaaag tgctgcagta
     2041 tggccagacg tggtggctca cacctgcaat cccagcacct taggaggccg aggcaggagg
     2101 atccttgagg tcaggagttc gagaccagcc tcgccaacat ggtgaaaccc catttctact
     2161 aaaaatacaa aaaattagcc aagtgtggtg gcatatgcct gtaatcccaa ctactcagaa
     2221 ggccgaggca ggagaattac ttgaacgcag gagaatcact gcagcccagg aggcagaggt
     2281 tgcagtgagc cgagattgca ccactgcact ccagcctggg tgacagagca agactccatc
     2341 tcagtaaata aataaataaa taaaaagcgc tgcagtagct gtggcctcac cctgaagtca
     2401 gcgggcccag gcctacctca ctctctccct tggcagagaa gcagacgtcc atagctcctc
     2461 tccctcacaa gcgctcccag cctgccctcc agctgctgct ctcccctccc agtctctact
     2521 cactgggatg aggttaggtc atgaggacac caaaaaccta aaaataaaca aaaagccaaa
     2581 caagccttag cttttcttaa agactgaaat gcctggaagt gtccctttat ttataaaata
     2641 acttttgtca tatttcttat acatgtttct tgtaagaaat tcagaaacta cagacaaaga
     2701 gagtggaaat tacccactgt caggcctctg agcccaagct aagccatcat atcccctgtg
     2761 ccctgcacgt atacacccag atggcctgaa gcaactgaag atccacaaaa gaagtgaaaa
     2821 tagccagttc ctgccttaac tgatgacatt ccaccattgt gatttgttcc tgccccaccc
     2881 taactgatca attgaccttg tgacaataca ccttccccac ccttgagaag gtgctttgta
     2941 atattctccc cacccacccc acgcccgcac ccccgcaccc ttaagaaggt attttgtaat
     3001 attctctccg ccattgagaa tgtgctttgt aagatccacc ccctgcccac aaaaaattgc
     3061 tcctaactcc accgcctatc ccaaacctac aagaactaat gataatccca ccaccctttg
     3121 ctgactcttt ttggactcag cccacctgca cccaggtgat taaaaagctt tattgttcac
     3181 acaaagcctg tttggtagtc tcttcacagg gaagcatgtg acacccacaa tcccacctag
     3241 cccaggagag agctacggca gggtgtgtgt tttgacactg agcttggggc tttttccatc
     3301 ttctccccac agcctctggc tccacacctc caccgttcaa gcgccagaaa gagctgtcta
     3361 tgcagcctgc tcttgggcct ggggatgaga cacacaattc attggctcct ggattttaag
     3421 tagacatttg taaatctata gctaactact gtccttaaag ccattgtttc cattacaaaa
     3481 tccaactctc tgagagaaaa gggtgtttta aatttaaaaa aataaaaaca aaaaagtttg
     3541 attgagacaa
//
