PSPC_HUMAN
ID PSPC_HUMAN Reviewed; 197 AA.
AC P11686; A6XNE4; B2RE00; E9PGX3; P11687; Q12793; Q7Z5D0;
DT 01-OCT-1989, integrated into UniProtKB/Swiss-Prot.
DT 01-APR-1990, sequence version 2.
DT 03-AUG-2022, entry version 212.
DE RecName: Full=Pulmonary surfactant-associated protein C;
DE Short=SP-C;
DE AltName: Full=Pulmonary surfactant-associated proteolipid SPL(Val);
DE AltName: Full=SP5;
DE Flags: Precursor;
GN Name=SFTPC; Synonyms=SFTP2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=3479771; DOI=10.1073/pnas.84.22.7915;
RA Warr R.G., Hawgood S., Buckley D.I., Crisp T.M., Schilling J., Benson B.J.,
RA Ballard P.L., Clements J.A., White R.T.;
RT "Low molecular weight human pulmonary surfactant protein (SP5): isolation,
RT characterization, and cDNA and amino acid sequences.";
RL Proc. Natl. Acad. Sci. U.S.A. 84:7915-7919(1987).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND PROTEIN SEQUENCE OF 26-42.
RX PubMed=3335510; DOI=10.1016/s0021-9258(19)57347-1;
RA Glasser S.W., Korfhagen T.R., Weaver T.E., Clark J.C., Pilot-Matias T.,
RA Meuth J., Fox J.L., Whitsett J.A.;
RT "cDNA, deduced polypeptide structure and chromosomal assignment of human
RT pulmonary surfactant proteolipid, SPL(pVal).";
RL J. Biol. Chem. 263:9-12(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, AND VARIANT
RP THR-138.
RX PubMed=2839484; DOI=10.1016/s0021-9258(19)81519-3;
RA Glasser S.W., Korfhagen T.R., Perme C.M., Pilot-Matias T.J., Kister S.E.,
RA Whitsett J.A.;
RT "Two SP-C genes encoding human pulmonary surfactant proteolipid.";
RL J. Biol. Chem. 263:10326-10331(1988).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANTS THR-138 AND
RP SER-186.
RX PubMed=8181452; DOI=10.3109/01902149409064373;
RA Hatzis D., Deiter G., deMello D.E., Floros J.;
RT "Human surfactant protein-C: genetic homogeneity and expression in RDS;
RT comparison with other species.";
RL Exp. Lung Res. 20:57-72(1994).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANTS THR-138 AND
RP SER-186.
RA Frerking I., Stevens P., Pison U., Witt H.;
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-138
RP AND SER-186.
RC TISSUE=Lung;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Yu Z., Zheng Z., Tang T., Fu Y.;
RT "A computer system platform used to predict novel genes.";
RL Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-138 AND SER-186.
RG SeattleSNPs variation discovery resource;
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS THR-138 AND
RP SER-186.
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS THR-138 AND
RP SER-186.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [12]
RP PROTEIN SEQUENCE OF 24-58.
RX PubMed=3366248; DOI=10.1016/0014-5793(88)80386-7;
RA Johansson J., Joernvall H., Eklund A., Christensen N., Robertson B.,
RA Curstedt T.;
RT "Hydrophobic 3.7 kDa surfactant polypeptide: structural characterization of
RT the human and bovine forms.";
RL FEBS Lett. 232:61-64(1988).
RN [13]
RP PALMITOYLATION AT CYS-28 AND CYS-29.
RX PubMed=2326260; DOI=10.1073/pnas.87.8.2985;
RA Curstedt T., Johansson J., Persson P., Eklund A., Robertson B.,
RA Loewenadler B., Joernvall H.;
RT "Hydrophobic surfactant-associated polypeptides: SP-C is a lipopeptide with
RT two palmitoylated cysteine residues, whereas SP-B lacks covalently linked
RT fatty acyl groups.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:2985-2989(1990).
RN [14]
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 59-197, AND DISULFIDE BONDS.
RX PubMed=22308375; DOI=10.1073/pnas.1114740109;
RA Willander H., Askarieh G., Landreh M., Westermark P., Nordling K.,
RA Keranen H., Hermansson E., Hamvas A., Nogee L.M., Bergman T., Saenz A.,
RA Casals C., Aqvistg J., Jornvall H., Berglund H., Presto J., Knight S.D.,
RA Johansson J.;
RT "High-resolution structure of a BRICHOS domain and its implications for
RT anti-amyloid chaperone activity on lung surfactant protein C.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:2325-2329(2012).
RN [15]
RP VARIANT SMDP2 GLN-188.
RX PubMed=11991887; DOI=10.1164/rccm.200112-123oc;
RA Thomas A.Q., Lane K., Phillips J.A. III, Prince M., Markin C., Speer M.,
RA Schwartz D.A., Gaddipati R., Marney A., Johnson J., Roberts R., Haines J.,
RA Stahlman M., Loyd J.E.;
RT "Heterozygosity for a surfactant protein C gene mutation associated with
RT usual interstitial pneumonitis and cellular nonspecific interstitial
RT pneumonitis in one kindred.";
RL Am. J. Respir. Crit. Care Med. 165:1322-1328(2002).
RN [16]
RP VARIANTS SMDP2 THR-73 AND GLN-167.
RX PubMed=15039969; DOI=10.1002/ajmg.a.20670;
RA Tredano M., Griese M., Brasch F., Schumacher S., de Blic J., Marque S.,
RA Houdayer C., Elion J., Couderc R., Bahuau M.;
RT "Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or
RT without fibrosing lung disease.";
RL Am. J. Med. Genet. A 126:18-26(2004).
RN [17]
RP VARIANTS THR-138 AND SER-186, AND INVOLVEMENT IN RDS.
RX PubMed=14735158; DOI=10.1038/sj.ejhg.5201137;
RA Lahti M., Marttila R., Hallman M.;
RT "Surfactant protein C gene variation in the Finnish population -association
RT with perinatal respiratory disease.";
RL Eur. J. Hum. Genet. 12:312-320(2004).
RN [18]
RP VARIANT SMDP2 THR-73, AND CHARACTERIZATION OF VARIANT SMDP2 THR-73.
RX PubMed=15293602; DOI=10.1183/09031936.04.00000104;
RA Brasch F., Griese M., Tredano M., Johnen G., Ochs M., Rieger C.,
RA Mulugeta S., Mueller K.M., Bahuau M., Beers M.F.;
RT "Interstitial lung disease in a baby with a de novo mutation in the SFTPC
RT gene.";
RL Eur. Respir. J. 24:30-39(2004).
RN [19]
RP VARIANT SMDP2 THR-73.
RX PubMed=15572558; DOI=10.1183/09031936.04.00092304;
RA Percopo S., Cameron H.S., Nogee L.M., Pettinato G., Montella S.,
RA Santamaria F.;
RT "Variable phenotype associated with SP-C gene mutations: fatal case with
RT the I73T mutation.";
RL Eur. Respir. J. 24:1072-1073(2004).
RN [20]
RP VARIANT SURFACTANT PROTEIN C DEFICIENCY ASP-116.
RX PubMed=15647591; DOI=10.1056/nejm200501133520223;
RA Rosen D.M., Waltz D.A.;
RT "Hydroxychloroquine and surfactant protein C deficiency.";
RL N. Engl. J. Med. 352:207-208(2005).
RN [21]
RP VARIANT SMDP2 LYS-66, AND CHARACTERIZATION OF VARIANT SMDP2 LYS-66.
RX PubMed=15557112; DOI=10.1203/01.pdr.0000147567.02473.5a;
RA Stevens P.A., Pettenazzo A., Brasch F., Mulugeta S., Baritussio A.,
RA Ochs M., Morrison L., Russo S.J., Beers M.F.;
RT "Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal
RT proprotein trafficking resulting from a spontaneous mutation in the
RT surfactant protein C gene.";
RL Pediatr. Res. 57:89-98(2005).
CC -!- FUNCTION: Pulmonary surfactant associated proteins promote alveolar
CC stability by lowering the surface tension at the air-liquid interface
CC in the peripheral air spaces.
CC -!- INTERACTION:
CC P11686; J3KQ12: BSCL2; NbExp=3; IntAct=EBI-10197617, EBI-11532900;
CC P11686; Q8TD46-4: CD200R1; NbExp=3; IntAct=EBI-10197617, EBI-12824513;
CC P11686; P11912: CD79A; NbExp=3; IntAct=EBI-10197617, EBI-7797864;
CC P11686; O00501: CLDN5; NbExp=3; IntAct=EBI-10197617, EBI-18400628;
CC P11686; Q7Z7G2: CPLX4; NbExp=3; IntAct=EBI-10197617, EBI-18013275;
CC P11686; O43889-2: CREB3; NbExp=3; IntAct=EBI-10197617, EBI-625022;
CC P11686; Q07325: CXCL9; NbExp=7; IntAct=EBI-10197617, EBI-3911467;
CC P11686; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-10197617, EBI-18304435;
CC P11686; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-10197617, EBI-12142257;
CC P11686; P48165: GJA8; NbExp=3; IntAct=EBI-10197617, EBI-17458373;
CC P11686; Q8NBJ4: GOLM1; NbExp=3; IntAct=EBI-10197617, EBI-712073;
CC P11686; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-10197617, EBI-13345167;
CC P11686; Q8TED1: GPX8; NbExp=3; IntAct=EBI-10197617, EBI-11721746;
CC P11686; P05981: HPN; NbExp=3; IntAct=EBI-10197617, EBI-12816745;
CC P11686; P32942: ICAM3; NbExp=3; IntAct=EBI-10197617, EBI-725421;
CC P11686; P38484: IFNGR2; NbExp=3; IntAct=EBI-10197617, EBI-3905457;
CC P11686; P26715: KLRC1; NbExp=3; IntAct=EBI-10197617, EBI-9018187;
CC P11686; Q8N112: LSMEM2; NbExp=3; IntAct=EBI-10197617, EBI-10264855;
CC P11686; P15941-11: MUC1; NbExp=3; IntAct=EBI-10197617, EBI-17263240;
CC P11686; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-10197617, EBI-716063;
CC P11686; P15151: PVR; NbExp=3; IntAct=EBI-10197617, EBI-3919694;
CC P11686; Q96IW7: SEC22A; NbExp=6; IntAct=EBI-10197617, EBI-8652744;
CC P11686; P60059: SEC61G; NbExp=3; IntAct=EBI-10197617, EBI-4402709;
CC P11686; P11686: SFTPC; NbExp=8; IntAct=EBI-10197617, EBI-10197617;
CC P11686; Q9Y336: SIGLEC9; NbExp=3; IntAct=EBI-10197617, EBI-12857926;
CC P11686; Q9BZL3: SMIM3; NbExp=4; IntAct=EBI-10197617, EBI-741850;
CC P11686; Q8N205: SYNE4; NbExp=3; IntAct=EBI-10197617, EBI-7131783;
CC P11686; Q8N205-2: SYNE4; NbExp=4; IntAct=EBI-10197617, EBI-12099160;
CC P11686; Q9BVX2: TMEM106C; NbExp=3; IntAct=EBI-10197617, EBI-2821497;
CC P11686; Q8IV31: TMEM139; NbExp=3; IntAct=EBI-10197617, EBI-7238458;
CC P11686; Q3MIR4: TMEM30B; NbExp=3; IntAct=EBI-10197617, EBI-9527107;
CC P11686; Q9BSE2: TMEM79; NbExp=15; IntAct=EBI-10197617, EBI-8649725;
CC P11686; O15393-2: TMPRSS2; NbExp=3; IntAct=EBI-10197617, EBI-12345267;
CC P11686-1; PRO_0000000092 [P05067]: APP; NbExp=5; IntAct=EBI-16143688, EBI-821758;
CC P11686-2; Q9BSE2: TMEM79; NbExp=3; IntAct=EBI-16435005, EBI-8649725;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, surface film.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P11686-1; Sequence=Displayed;
CC Name=2; Synonyms=C1;
CC IsoId=P11686-2; Sequence=VSP_006311;
CC -!- DISEASE: Pulmonary surfactant metabolism dysfunction 2 (SMDP2)
CC [MIM:610913]: A rare disease associated with progressive respiratory
CC insufficiency and lung disease with a variable clinical course, due to
CC impaired surfactant homeostasis. It is characterized by alveolar
CC filling with floccular material that stains positive using the periodic
CC acid-Schiff method and is derived from surfactant phospholipids and
CC protein components. Excessive lipoproteins accumulation in the alveoli
CC results in severe respiratory distress. {ECO:0000269|PubMed:11991887,
CC ECO:0000269|PubMed:15039969, ECO:0000269|PubMed:15293602,
CC ECO:0000269|PubMed:15557112, ECO:0000269|PubMed:15572558}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Respiratory distress syndrome in premature infants (RDS)
CC [MIM:267450]: A lung disease affecting usually premature newborn
CC infants. It is characterized by deficient gas exchange, diffuse
CC atelectasis, high-permeability lung edema and fibrin-rich alveolar
CC deposits called 'hyaline membranes'. {ECO:0000269|PubMed:14735158}.
CC Note=Disease susceptibility may be associated with variants affecting
CC the gene represented in this entry.
CC -!- MISCELLANEOUS: Pulmonary surfactant consists of 90% lipid and 10%
CC protein. There are 4 surfactant-associated proteins: 2 collagenous,
CC carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small
CC hydrophobic proteins (SP-B and SP-C).
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/sftpc/";
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DR EMBL; J03553; AAA36631.1; -; mRNA.
DR EMBL; J03517; AAA36634.1; -; mRNA.
DR EMBL; J03890; AAC32022.1; -; Genomic_DNA.
DR EMBL; J03890; AAC32023.1; -; Genomic_DNA.
DR EMBL; U02948; AAB60332.1; -; Genomic_DNA.
DR EMBL; AY357924; AAQ67734.1; -; Genomic_DNA.
DR EMBL; AK315742; BAG38097.1; -; mRNA.
DR EMBL; DQ884411; ABI63378.1; -; mRNA.
DR EMBL; AY337315; AAP88034.1; -; Genomic_DNA.
DR EMBL; AC105206; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471080; EAW63707.1; -; Genomic_DNA.
DR EMBL; BC005913; AAH05913.1; -; mRNA.
DR CCDS; CCDS43722.1; -. [P11686-1]
DR CCDS; CCDS55209.1; -. [P11686-2]
DR PIR; A28801; LNHUC.
DR RefSeq; NP_001165828.1; NM_001172357.1.
DR RefSeq; NP_001165881.1; NM_001172410.1.
DR RefSeq; NP_001304707.1; NM_001317778.1.
DR RefSeq; NP_001304708.1; NM_001317779.1.
DR RefSeq; NP_001304709.1; NM_001317780.1.
DR RefSeq; NP_003009.2; NM_003018.3.
DR PDB; 2YAD; X-ray; 2.20 A; A/B/C/D/E/F=59-197.
DR PDBsum; 2YAD; -.
DR AlphaFoldDB; P11686; -.
DR SMR; P11686; -.
DR BioGRID; 112338; 242.
DR DIP; DIP-61551N; -.
DR IntAct; P11686; 43.
DR STRING; 9606.ENSP00000316152; -.
DR iPTMnet; P11686; -.
DR PhosphoSitePlus; P11686; -.
DR SwissPalm; P11686; -.
DR BioMuta; SFTPC; -.
DR DMDM; 131425; -.
DR MassIVE; P11686; -.
DR PaxDb; P11686; -.
DR PeptideAtlas; P11686; -.
DR PRIDE; P11686; -.
DR ProteomicsDB; 20411; -.
DR ProteomicsDB; 52799; -. [P11686-1]
DR ProteomicsDB; 52800; -. [P11686-2]
DR Antibodypedia; 3986; 435 antibodies from 34 providers.
DR DNASU; 6440; -.
DR Ensembl; ENST00000318561.7; ENSP00000316152.3; ENSG00000168484.13.
DR GeneID; 6440; -.
DR KEGG; hsa:6440; -.
DR UCSC; uc003xax.5; human. [P11686-1]
DR CTD; 6440; -.
DR DisGeNET; 6440; -.
DR GeneCards; SFTPC; -.
DR GeneReviews; SFTPC; -.
DR HGNC; HGNC:10802; SFTPC.
DR HPA; ENSG00000168484; Tissue enriched (lung).
DR MalaCards; SFTPC; -.
DR MIM; 178620; gene.
DR MIM; 267450; phenotype.
DR MIM; 610913; phenotype.
DR neXtProt; NX_P11686; -.
DR Orphanet; 217566; Chronic respiratory distress with surfactant metabolism deficiency.
DR Orphanet; 2032; Idiopathic pulmonary fibrosis.
DR Orphanet; 70587; Infant acute respiratory distress syndrome.
DR Orphanet; 440392; Interstitial lung disease due to SP-C deficiency.
DR PharmGKB; PA35714; -.
DR VEuPathDB; HostDB:ENSG00000168484; -.
DR eggNOG; ENOG502S6QH; Eukaryota.
DR InParanoid; P11686; -.
DR OrthoDB; 1323673at2759; -.
DR PhylomeDB; P11686; -.
DR TreeFam; TF337317; -.
DR PathwayCommons; P11686; -.
DR Reactome; R-HSA-5683826; Surfactant metabolism.
DR Reactome; R-HSA-5688354; Defective pro-SFTPC causes SMDP2 and RDS.
DR Reactome; R-HSA-5688849; Defective CSF2RB causes SMDP5.
DR Reactome; R-HSA-5688890; Defective CSF2RA causes SMDP4.
DR SignaLink; P11686; -.
DR SIGNOR; P11686; -.
DR BioGRID-ORCS; 6440; 6 hits in 1063 CRISPR screens.
DR ChiTaRS; SFTPC; human.
DR GeneWiki; Pulmonary_surfactant-associated_protein_C; -.
DR GenomeRNAi; 6440; -.
DR Pharos; P11686; Tbio.
DR PRO; PR:P11686; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; P11686; protein.
DR Bgee; ENSG00000168484; Expressed in lower lobe of lung and 160 other tissues.
DR ExpressionAtlas; P11686; baseline and differential.
DR Genevisible; P11686; HS.
DR GO; GO:0097208; C:alveolar lamellar body; IBA:GO_Central.
DR GO; GO:0045334; C:clathrin-coated endocytic vesicle; TAS:Reactome.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0042599; C:lamellar body; TAS:Reactome.
DR GO; GO:0097486; C:multivesicular body lumen; TAS:Reactome.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0007585; P:respiratory gaseous exchange by respiratory system; IEA:UniProtKB-KW.
DR InterPro; IPR007084; BRICHOS_dom.
DR InterPro; IPR001729; SP-C.
DR InterPro; IPR018051; SP-C_palmitoylation_site.
DR InterPro; IPR015091; Surfactant_protein_propep.
DR PANTHER; PTHR10800; PTHR10800; 1.
DR Pfam; PF04089; BRICHOS; 1.
DR Pfam; PF08999; SP_C-Propep; 1.
DR SMART; SM01039; BRICHOS; 1.
DR SMART; SM00019; SF_P; 1.
DR PROSITE; PS50869; BRICHOS; 1.
DR PROSITE; PS00341; SURFACT_PALMITOYL; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Direct protein sequencing;
KW Disease variant; Disulfide bond; Gaseous exchange; Lipoprotein; Palmitate;
KW Reference proteome; Secreted; Surface film.
FT PROPEP 1..23
FT /evidence="ECO:0000269|PubMed:3366248"
FT /id="PRO_0000033477"
FT CHAIN 24..58
FT /note="Pulmonary surfactant-associated protein C"
FT /id="PRO_0000033478"
FT PROPEP 59..197
FT /id="PRO_0000033479"
FT DOMAIN 94..197
FT /note="BRICHOS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00255"
FT LIPID 28
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000269|PubMed:2326260"
FT LIPID 29
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000269|PubMed:2326260"
FT DISULFID 120..148
FT /evidence="ECO:0000269|PubMed:22308375"
FT DISULFID 121..189
FT /evidence="ECO:0000269|PubMed:22308375"
FT VAR_SEQ 146..151
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_006311"
FT VARIANT 66
FT /note="E -> K (in SMDP2; targeted abnormally to early
FT endosomes and likely to result in a toxic gain of function;
FT dbSNP:rs121917836)"
FT /evidence="ECO:0000269|PubMed:15557112"
FT /id="VAR_036855"
FT VARIANT 73
FT /note="I -> T (in SMDP2; abnormal trafficking and
FT accumulation of aberrantly processed proSPC within alveoli;
FT dbSNP:rs121917834)"
FT /evidence="ECO:0000269|PubMed:15039969,
FT ECO:0000269|PubMed:15293602, ECO:0000269|PubMed:15572558"
FT /id="VAR_026753"
FT VARIANT 116
FT /note="A -> D (in SMDP2; dbSNP:rs121918559)"
FT /evidence="ECO:0000269|PubMed:15647591"
FT /id="VAR_026754"
FT VARIANT 138
FT /note="N -> T (influences susceptibility to RDS in
FT premature infants; dbSNP:rs4715)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:14735158, ECO:0000269|PubMed:16421571,
FT ECO:0000269|PubMed:2839484, ECO:0000269|PubMed:8181452,
FT ECO:0000269|Ref.10, ECO:0000269|Ref.5, ECO:0000269|Ref.8"
FT /id="VAR_007453"
FT VARIANT 167
FT /note="R -> Q (in SMDP2; dbSNP:rs34957318)"
FT /evidence="ECO:0000269|PubMed:15039969"
FT /id="VAR_026755"
FT VARIANT 186
FT /note="N -> S (influences susceptibility to RDS in
FT premature infants; dbSNP:rs1124)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:14735158, ECO:0000269|PubMed:16421571,
FT ECO:0000269|PubMed:8181452, ECO:0000269|Ref.10,
FT ECO:0000269|Ref.5, ECO:0000269|Ref.8"
FT /id="VAR_016175"
FT VARIANT 188
FT /note="L -> Q (in SMDP2; dbSNP:rs121917835)"
FT /evidence="ECO:0000269|PubMed:11991887"
FT /id="VAR_026756"
FT CONFLICT 14
FT /note="P -> PPCQ (in Ref. 4; AAB60332)"
FT /evidence="ECO:0000305"
FT CONFLICT 45
FT /note="L -> S (in Ref. 4; AAB60332)"
FT /evidence="ECO:0000305"
FT CONFLICT 65..67
FT /note="TEM -> FPQ (in Ref. 4; AAB60332)"
FT /evidence="ECO:0000305"
FT STRAND 91..96
FT /evidence="ECO:0007829|PDB:2YAD"
FT TURN 97..99
FT /evidence="ECO:0007829|PDB:2YAD"
FT STRAND 100..105
FT /evidence="ECO:0007829|PDB:2YAD"
FT TURN 106..109
FT /evidence="ECO:0007829|PDB:2YAD"
FT STRAND 110..116
FT /evidence="ECO:0007829|PDB:2YAD"
FT STRAND 121..125
FT /evidence="ECO:0007829|PDB:2YAD"
FT HELIX 134..143
FT /evidence="ECO:0007829|PDB:2YAD"
FT HELIX 183..189
FT /evidence="ECO:0007829|PDB:2YAD"
FT STRAND 194..197
FT /evidence="ECO:0007829|PDB:2YAD"
SQ SEQUENCE 197 AA; 21053 MW; C26A21E33C60AA78 CRC64;
MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM
SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC
CYIMKIAPES IPSLEALNRK VHNFQMECSL QAKPAVPTSK LGQAEGRDAG SAPSGGDPAF
LGMAVNTLCG EVPLYYI
