LOCUS       NM_001317778             839 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens surfactant protein C (SFTPC), transcript variant 4,
            mRNA.
ACCESSION   NM_001317778 XM_006716379
VERSION     NM_001317778.2
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 839)
  AUTHORS   Diesler,R., Legendre,M., Si-Mohamed,S., Brillet,P.Y., Wemeau,L.,
            Manali,E.D., Gagnadoux,F., Hirschi,S., Lorillon,G.,
            Reynaud-Gaubert,M., Bironneau,V., Blanchard,E., Bourdin,A.,
            Dominique,S., Justet,A., Macey,J., Marchand-Adam,S.,
            Morisse-Pradier,H., Nunes,H., Papiris,S.A., Traclet,J., Traore,I.,
            Crestani,B., Amselem,S., Nathan,N., Borie,R. and Cottin,V.
  CONSRTM   OrphaLung network
  TITLE     Similarities and differences of interstitial lung disease
            associated with pathogenic variants in SFTPC and ABCA3 in adults
  JOURNAL   Respirology 29 (4), 312-323 (2024)
   PUBMED   38345107
  REMARK    GeneRIF: Similarities and differences of interstitial lung disease
            associated with pathogenic variants in SFTPC and ABCA3 in adults.
REFERENCE   2  (bases 1 to 839)
  AUTHORS   Ibanez,L.I., Martinez,V.P., Iglesias,A.A., Bellomo,C.M.,
            Alonso,D.O., Coelho,R.M., Martinez Peralta,L. and Periolo,N.
  TITLE     Decreased expression of surfactant Protein-C and CD74 in alveolar
            epithelial cells during influenza virus A(H1N1)pdm09 and H3N2
            infection
  JOURNAL   Microb Pathog 176, 106017 (2023)
   PUBMED   36736545
  REMARK    GeneRIF: Decreased expression of surfactant Protein-C and CD74 in
            alveolar epithelial cells during influenza virus A(H1N1)pdm09 and
            H3N2 infection.
REFERENCE   3  (bases 1 to 839)
  AUTHORS   Balinotti,J.E., Mallie,C., Maffey,A., Colom,A., Epaud,R., de
            Becdelievre,A., Fanen,P., Delestrain,C., Medin,M. and Teper,A.
  TITLE     Inherited pulmonary surfactant metabolism disorders in Argentina:
            Differences between patients with SFTPC and ABCA3 variants
  JOURNAL   Pediatr Pulmonol 58 (2), 540-549 (2023)
   PUBMED   36324278
  REMARK    GeneRIF: Inherited pulmonary surfactant metabolism disorders in
            Argentina: Differences between patients with SFTPC and ABCA3
            variants.
REFERENCE   4  (bases 1 to 839)
  AUTHORS   Otsubo,Y., Fujita,Y., Ando,Y., Imataka,G. and Yoshihara,S.
  TITLE     Elevated serum TARC/CCL17 levels associated with childhood
            interstitial lung disease with SFTPC gene mutation
  JOURNAL   Pediatr Pulmonol 57 (7), 1820-1822 (2022)
   PUBMED   35488463
  REMARK    GeneRIF: Elevated serum TARC/CCL17 levels associated with childhood
            interstitial lung disease with SFTPC gene mutation.
REFERENCE   5  (bases 1 to 839)
  AUTHORS   Fassan,M., Collesei,A., Angerilli,V., Sbaraglia,M., Fortarezza,F.,
            Pezzuto,F., De Gaspari,M., Businello,G., Moni,M., Rizzo,S.,
            Traverso,G., Colosso,V., Taschin,E., Lunardi,F., Valls,A.F.,
            Schiavi,F., Basso,C., Calabrese,F. and Dei Tos,A.P.
  TITLE     Multi-Design Differential Expression Profiling of COVID-19 Lung
            Autopsy Specimens Reveals Significantly Deregulated Inflammatory
            Pathways and SFTPC Impaired Transcription
  JOURNAL   Cells 11 (6), 1011 (2022)
   PUBMED   35326463
  REMARK    GeneRIF: Multi-Design Differential Expression Profiling of COVID-19
            Lung Autopsy Specimens Reveals Significantly Deregulated
            Inflammatory Pathways and SFTPC Impaired Transcription.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 839)
  AUTHORS   Garcia,C.K. and Talbert,J.L.
  TITLE     Pulmonary Fibrosis Predisposition Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301408
REFERENCE   7  (bases 1 to 839)
  AUTHORS   Keller,A., Eistetter,H.R., Voss,T. and Schafer,K.P.
  TITLE     The pulmonary surfactant protein C (SP-C) precursor is a type II
            transmembrane protein
  JOURNAL   Biochem J 277 (Pt 2) (Pt 2), 493-499 (1991)
   PUBMED   1859376
REFERENCE   8  (bases 1 to 839)
  AUTHORS   Simatos,G.A., Forward,K.B., Morrow,M.R. and Keough,K.M.
  TITLE     Interaction between perdeuterated dimyristoylphosphatidylcholine
            and low molecular weight pulmonary surfactant protein SP-C
  JOURNAL   Biochemistry 29 (24), 5807-5814 (1990)
   PUBMED   2383558
REFERENCE   9  (bases 1 to 839)
  AUTHORS   Curstedt,T., Johansson,J., Persson,P., Eklund,A., Robertson,B.,
            Lowenadler,B. and Jornvall,H.
  TITLE     Hydrophobic surfactant-associated polypeptides: SP-C is a
            lipopeptide with two palmitoylated cysteine residues, whereas SP-B
            lacks covalently linked fatty acyl groups
  JOURNAL   Proc Natl Acad Sci U S A 87 (8), 2985-2989 (1990)
   PUBMED   2326260
REFERENCE   10 (bases 1 to 839)
  AUTHORS   Glasser,S.W., Korfhagen,T.R., Perme,C.M., Pilot-Matias,T.J.,
            Kister,S.E. and Whitsett,J.A.
  TITLE     Two SP-C genes encoding human pulmonary surfactant proteolipid
  JOURNAL   J Biol Chem 263 (21), 10326-10331 (1988)
   PUBMED   2839484
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG569816.1, BF433929.1 and
            BQ027183.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001317778.1.
            
            Summary: This gene encodes the pulmonary-associated surfactant
            protein C (SPC), an extremely hydrophobic 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. Multiple mutations in this gene have been
            identified, which cause pulmonary surfactant metabolism dysfunction
            type 2, also called pulmonary alveolar proteinosis due to
            surfactant protein C deficiency, and are associated with
            interstitial lung disease in older infants, children, and adults.
            Alternatively spliced transcript variants encoding different
            protein isoforms 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 :: ERR279842.993.1, ERR279875.4712.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000679463.1/ ENSP00000505152.1
            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
            1-318               BG569816.1         5-322
            319-838             BF433929.1         3-522               c
            839-839             BQ027183.1         16-16               c
FEATURES             Location/Qualifiers
     source          1..839
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..839
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /note="surfactant protein C"
                     /db_xref="GeneID:6440"
                     /db_xref="HGNC:HGNC:10802"
                     /db_xref="MIM:178620"
     exon            1..73
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..607
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /note="isoform 2 is encoded by transcript variant 4;
                     pulmonary surfactant apoprotein-2 SP-C; pulmonary
                     surfactant-associated proteolipid SPL(Val); BRICHOS domain
                     containing 6"
                     /codon_start=1
                     /product="surfactant protein C isoform 2"
                     /protein_id="NP_001304707.1"
                     /db_xref="CCDS:CCDS55209.1"
                     /db_xref="GeneID:6440"
                     /db_xref="HGNC:HGNC:10802"
                     /db_xref="MIM:178620"
                     /translation="MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVV
                     LIVVVIVGALLMGLHMSQKHTEMVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLV
                     VYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEALTRKVHNFQAKPAVPTSKLGQAEG
                     RDAGSAPSGGDPAFLGMAVSTLCGEVPLYYI"
     exon            74..232
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /inference="alignment:Splign:2.1.0"
     exon            233..355
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /inference="alignment:Splign:2.1.0"
     exon            356..466
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /inference="alignment:Splign:2.1.0"
     exon            467..625
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /inference="alignment:Splign:2.1.0"
     exon            626..839
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      813..818
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /note="hexamer: AATAAA"
     polyA_site      839
                     /gene="SFTPC"
                     /gene_synonym="BRICD6; PSP-C; SFTP2; SMDP2; SP-C; SP5"
                     /note="major polyA site"
ORIGIN      
        1 gaggagagga gagcatagca cctgcagcaa gatggatgtg ggcagcaaag aggtcctgat
       61 ggagagcccg ccggactact ccgcagctcc ccggggccga tttggcattc cctgctgccc
      121 agtgcacctg aaacgccttc ttatcgtggt ggtggtggtg gtcctcatcg tcgtggtgat
      181 tgtgggagcc ctgctcatgg gtctccacat gagccagaaa cacacggaga tggttctgga
      241 gatgagcatt ggggcgccgg aagcccagca acgcctggcc ctgagtgagc acctggttac
      301 cactgccacc ttctccatcg gctccactgg cctcgtggtg tatgactacc agcagctgct
      361 gatcgcctac aagccagccc ctggcacctg ctgctacatc atgaagatag ctccagagag
      421 catccccagt cttgaggctc tcactagaaa agtccacaac ttccaggcca agcccgcagt
      481 gcctacgtct aagctgggcc aggcagaggg gcgagatgca ggctcagcac cctccggagg
      541 ggacccggcc ttcctgggca tggccgtgag caccctgtgt ggcgaggtgc cgctctacta
      601 catctaggac gcctccggtg agcagggtca gtggaagccc caacgggaaa ggaaacgccc
      661 cgggcaaagg gtcttttgca gcttttgcag acgggcaaga agctgcttct gcccacaccg
      721 cagggacaag ccctggagaa atgggagctt ggggagagga tgggagtggg cagaggtggc
      781 gcccaggggc ccgggaactc ctgccacaac agaataaagc agcctgattg aaaagcaaa
//
