ID PSPC_HUMAN Reviewed; 197 AA. AC P11686; A0A0A0MTC9; A6XNE4; B2RE00; E9PGX3; P11687; Q12793; Q7Z5D0; DT 01-OCT-1989, integrated into UniProtKB/Swiss-Prot. DT 24-JAN-2024, sequence version 3. DT 27-MAR-2024, entry version 220. 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), AND VARIANTS ASN-138 AND ASN-186. 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), PROTEIN SEQUENCE OF 26-42, AND RP VARIANTS ASN-138 AND ASN-186. 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 ASN-186. 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). 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). 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). 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), AND VARIANTS ASN-138 RP AND ASN-186. 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 [LARGE SCALE MRNA] (ISOFORM 2). RX PubMed=26871637; DOI=10.1016/j.cell.2016.01.029; RA Yang X., Coulombe-Huntington J., Kang S., Sheynkman G.M., Hao T., RA Richardson A., Sun S., Yang F., Shen Y.A., Murray R., Spirohn K., RA Begg B.E., Duran-Frigola M., MacWilliams A., Pevzner S.J., Zhong Q., RA Trigg S.A., Tam S., Ghamsari L., Sahni N., Yi S., Rodriguez M.D., RA Balcha D., Tan G., Costanzo M., Andrews B., Boone C., Zhou X.J., RA Salehi-Ashtiani K., Charloteaux B., Chen A., Calderwood M.A., Aloy P., RA Roth F.P., Hill D.E., Iakoucheva L.M., Xia Y., Vidal M.; RT "Widespread Expansion of Protein Interaction Capabilities by Alternative RT Splicing."; RL Cell 164:805-817(2016). RN [9] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RG SeattleSNPs variation discovery resource; RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases. RN [10] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. 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 [11] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. 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 [12] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASN-138 RP AND ASN-186. 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 [13] 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 [14] 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 [15] 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 [16] 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 [17] 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 [18] RP VARIANTS ASN-138 AND ASN-186. 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 [19] 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 [20] 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 [21] RP VARIANT SMDP2 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 [22] 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, CC ECO:0000269|PubMed:15647591}. Note=The disease is caused by variants CC affecting 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/"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; KU178330; ALQ33788.1; -; 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. [P11686-2] DR RefSeq; NP_001165881.1; NM_001172410.1. [P11686-1] DR RefSeq; NP_001304707.1; NM_001317778.1. [P11686-2] DR RefSeq; NP_001304708.1; NM_001317779.1. DR RefSeq; NP_001304709.1; NM_001317780.1. [P11686-2] DR RefSeq; NP_003009.2; NM_003018.3. [P11686-1] 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; 9606-ENSP00000316152; -. DR PeptideAtlas; P11686; -. DR ProteomicsDB; 20411; -. DR ProteomicsDB; 52799; -. [P11686-1] DR ProteomicsDB; 52800; -. [P11686-2] DR Antibodypedia; 3986; 485 antibodies from 34 providers. DR DNASU; 6440; -. DR Ensembl; ENST00000318561.7; ENSP00000316152.3; ENSG00000168484.13. [P11686-1] DR Ensembl; ENST00000521315.5; ENSP00000430410.1; ENSG00000168484.13. [P11686-2] DR Ensembl; ENST00000679463.1; ENSP00000505152.1; ENSG00000168484.13. [P11686-2] DR GeneID; 6440; -. DR KEGG; hsa:6440; -. DR MANE-Select; ENST00000679463.1; ENSP00000505152.1; NM_001317778.2; NP_001304707.1. [P11686-2] DR UCSC; uc003xax.5; human. [P11686-1] DR AGR; HGNC:10802; -. 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; 610913; phenotype. DR neXtProt; NX_P11686; -. DR OpenTargets; ENSG00000168484; -. 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 GeneTree; ENSGT00390000017162; -. DR InParanoid; P11686; -. DR OrthoDB; 5319594at2759; -. 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 1141 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 cell types or tissues. DR ExpressionAtlas; P11686; baseline and differential. 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 Gene3D; 3.30.390.150; -; 1. 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; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; 1. DR PANTHER; PTHR10800:SF4; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; 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. DR Genevisible; P11686; HS. 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="T -> N (in dbSNP:rs4715)" FT /evidence="ECO:0000269|PubMed:14735158, FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3335510, FT ECO:0000269|PubMed:3479771, ECO:0000269|Ref.7" 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="S -> N (in dbSNP:rs1124)" FT /evidence="ECO:0000269|PubMed:14735158, FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2839484, FT ECO:0000269|PubMed:3335510, ECO:0000269|PubMed:3479771, FT ECO:0000269|Ref.7" 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; 21013 MW; C26A21E30F60B062 CRC64; MDVGSKEVLM ESPPDYSAAP RGRFGIPCCP VHLKRLLIVV VVVVLIVVVI VGALLMGLHM SQKHTEMVLE MSIGAPEAQQ RLALSEHLVT TATFSIGSTG LVVYDYQQLL IAYKPAPGTC CYIMKIAPES IPSLEALTRK VHNFQMECSL QAKPAVPTSK LGQAEGRDAG SAPSGGDPAF LGMAVSTLCG EVPLYYI //