PRS48_HUMAN
ID PRS48_HUMAN Reviewed; 328 AA.
AC Q7RTY5; Q08E82; Q0VAD4;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-AUG-2010, sequence version 2.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Serine protease 48;
DE EC=3.4.21.-;
DE AltName: Full=Epidermis-specific serine protease-like protein;
DE Flags: Precursor;
GN Name=PRSS48; Synonyms=ESSPL;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP TYR-53 AND CYS-290.
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 [3]
RP IDENTIFICATION.
RX PubMed=12838346; DOI=10.1038/nrg1111;
RA Puente X.S., Sanchez L.M., Overall C.M., Lopez-Otin C.;
RT "Human and mouse proteases: a comparative genomic approach.";
RL Nat. Rev. Genet. 4:544-558(2003).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7RTY5-2; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7RTY5-3; Sequence=VSP_033287;
CC -!- SIMILARITY: Belongs to the peptidase S1 family. {ECO:0000255|PROSITE-
CC ProRule:PRU00274}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD67963.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
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DR EMBL; AC104819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC121109; AAI21110.1; -; mRNA.
DR EMBL; BC121110; AAI21111.1; -; mRNA.
DR EMBL; BN000134; CAD67963.1; ALT_SEQ; mRNA.
DR CCDS; CCDS47145.1; -. [Q7RTY5-2]
DR RefSeq; NP_899231.2; NM_183375.2. [Q7RTY5-2]
DR RefSeq; XP_011530224.1; XM_011531922.2. [Q7RTY5-3]
DR AlphaFoldDB; Q7RTY5; -.
DR SMR; Q7RTY5; -.
DR BioGRID; 131340; 4.
DR IntAct; Q7RTY5; 1.
DR STRING; 9606.ENSP00000401328; -.
DR MEROPS; S01.325; -.
DR GlyGen; Q7RTY5; 1 site.
DR BioMuta; PRSS48; -.
DR DMDM; 302393737; -.
DR MassIVE; Q7RTY5; -.
DR PaxDb; Q7RTY5; -.
DR PeptideAtlas; Q7RTY5; -.
DR PRIDE; Q7RTY5; -.
DR Antibodypedia; 53070; 85 antibodies from 17 providers.
DR DNASU; 345062; -.
DR Ensembl; ENST00000441586.2; ENSP00000401420.2; ENSG00000189099.11. [Q7RTY5-3]
DR Ensembl; ENST00000455694.6; ENSP00000401328.2; ENSG00000189099.11. [Q7RTY5-2]
DR GeneID; 345062; -.
DR KEGG; hsa:345062; -.
DR MANE-Select; ENST00000455694.7; ENSP00000401328.2; NM_183375.5; NP_899231.4.
DR UCSC; uc011cif.3; human. [Q7RTY5-2]
DR CTD; 345062; -.
DR GeneCards; PRSS48; -.
DR HGNC; HGNC:24635; PRSS48.
DR HPA; ENSG00000189099; Tissue enriched (choroid).
DR neXtProt; NX_Q7RTY5; -.
DR OpenTargets; ENSG00000189099; -.
DR PharmGKB; PA165664477; -.
DR VEuPathDB; HostDB:ENSG00000189099; -.
DR eggNOG; KOG3627; Eukaryota.
DR GeneTree; ENSGT00940000160791; -.
DR HOGENOM; CLU_006842_0_4_1; -.
DR InParanoid; Q7RTY5; -.
DR OMA; GQTHICG; -.
DR OrthoDB; 1314811at2759; -.
DR PhylomeDB; Q7RTY5; -.
DR TreeFam; TF351676; -.
DR PathwayCommons; Q7RTY5; -.
DR SignaLink; Q7RTY5; -.
DR BioGRID-ORCS; 345062; 9 hits in 1065 CRISPR screens.
DR ChiTaRS; PRSS48; human.
DR GenomeRNAi; 345062; -.
DR Pharos; Q7RTY5; Tdark.
DR PRO; PR:Q7RTY5; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q7RTY5; protein.
DR Bgee; ENSG00000189099; Expressed in sural nerve and 65 other tissues.
DR ExpressionAtlas; Q7RTY5; baseline and differential.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0004252; F:serine-type endopeptidase activity; IBA:GO_Central.
DR GO; GO:0006508; P:proteolysis; IBA:GO_Central.
DR CDD; cd00190; Tryp_SPc; 1.
DR Gene3D; 2.40.10.10; -; 1.
DR InterPro; IPR009003; Peptidase_S1_PA.
DR InterPro; IPR043504; Peptidase_S1_PA_chymotrypsin.
DR InterPro; IPR001314; Peptidase_S1A.
DR InterPro; IPR001254; Trypsin_dom.
DR InterPro; IPR018114; TRYPSIN_HIS.
DR InterPro; IPR033116; TRYPSIN_SER.
DR Pfam; PF00089; Trypsin; 1.
DR PRINTS; PR00722; CHYMOTRYPSIN.
DR SMART; SM00020; Tryp_SPc; 1.
DR SUPFAM; SSF50494; SSF50494; 1.
DR PROSITE; PS50240; TRYPSIN_DOM; 1.
DR PROSITE; PS00134; TRYPSIN_HIS; 1.
DR PROSITE; PS00135; TRYPSIN_SER; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Hydrolase; Protease;
KW Reference proteome; Secreted; Serine protease; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..328
FT /note="Serine protease 48"
FT /id="PRO_5000095975"
FT DOMAIN 28..267
FT /note="Peptidase S1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00274"
FT ACT_SITE 68
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT ACT_SITE 114
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT ACT_SITE 220
FT /note="Charge relay system"
FT /evidence="ECO:0000250"
FT CARBOHYD 263
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 53..69
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00274"
FT DISULFID 148..226
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00274"
FT DISULFID 181..205
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00274"
FT DISULFID 216..244
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00274"
FT VAR_SEQ 18..160
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033287"
FT VARIANT 53
FT /note="C -> Y (in dbSNP:rs36097019)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042920"
FT VARIANT 118
FT /note="L -> S (in dbSNP:rs17027505)"
FT /id="VAR_042921"
FT VARIANT 290
FT /note="R -> C (in dbSNP:rs13126069)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042922"
SQ SEQUENCE 328 AA; 35970 MW; 835A76E917947351 CRC64;
MGPAGCAFTL LLLLGISVCG QPVYSSRVVG GQDAAAGRWP WQVSLHFDHN FICGGSLVSE
RLILTAAHCI QPTWTTFSYT VWLGSITVGD SRKRVKYYVS KIVIHPKYQD TTADVALLKL
SSQVTFTSAI LPICLPSVTK QLAIPPFCWV TGWGKVKESS DRDYHSALQE AEVPIIDRQA
CEQLYNPIGI FLPALEPVIK EDKICAGDTQ NMKDSCKGDS GGPLSCHIDG VWIQTGVVSW
GLECGKSLPG VYTNVIYYQK WINATISRAN NLDFSDFLFP IVLLSLALLR PSCAFGPNTI
HRVGTVAEAV ACIQGWEENA WRFSPRGR
