| Tag | Content |
|---|---|
| Uniprot ID | Q04592; E9QPB7; Q62040; |
| Entrez ID | 18552 |
| Genbank protein ID | BAA02143.1; BAA04507.1; AAA74636.1; |
| Genbank nucleotide ID | NM_001190483.2 |
| Ensembl protein ID | ENSMUSP00000050272; ENSMUSP00000025618; |
| Ensembl nucleotide ID | ENSMUSG00000024713 |
| Gene name | Proprotein convertase subtilisin/kexin type 5 |
| Gene symbol | Pcsk5 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 18519639 |
| Functional description | Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins. May be responsible for the maturation of gastrointestinal peptides. May be involved in the cellular proliferation of adrenal cortex via the activation of growth factors. |
| Sequence | MDWDWGNRCS RPGRRDLLCV LALLAGCLLP VCRTRVYTNH WAVKIAGGFA EADRIASKYG 60 FINVGQIGAL KDYYHFYHSR TIKRSVLSSR GTHSFISMEP KVEWIQQQVV KKRTKRDYDL 120 SHAQSTYFND PKWPSMWYMH CSDNTHPCQS DMNIEGAWKR GYTGKNIVVT ILDDGIERTH 180 PDLMQNYDAL ASCDVNGNDL DPMPRYDASN ENKHGTRCAG EVAATANNSH CTVGIAFNAK 240 IGGVRMLDGD VTDMVEAKSV SYNPQHVHIY SASWGPDDDG KTVDGPAPLT RQAFENGVRM 300 GRRGLGSVFV WASGNGGRSK DHCSCDGYTN SIYTISISST AESGKKPWYL EECSSTLATT 360 YSSGESYDKK IITTDLRQRC TDNHTGTSAS APMAAGIIAL ALEANPFLTW RDVQHVIVRT 420 SRAGHLNAND WKTNAAGFKV SHLYGFGLMD AEAMVMEAEK WTTVPQQHVC VESTDRQIKT 480 IRPNSAVRSI YKASGCSDNP NHHVNYLEHV VVRITITHPR RGDLAIYLTS PSGTRSQLLA 540 NRLFDHSMEG FKNWEFMTIH CWGERAAGDW VLEVYDTPSQ LRNFKTPGKL KEWSLVLYGT 600 SVQPYSPTNE FPKVERFRYS RVEDPTDDYG AEDYAGPCDP ECSEVGCDGP GPDHCSDCLH 660 YYYKLKNNTR ICVSSCPPGH YHADKKRCRK CAPNCESCFG SHGNQCLSCK YGYFLNEETS 720 SCVTQCPDGS YEDIKKNVCG KCSENCKACI GFHNCTECKG GLSLQGSRCS VTCEDGQFFN 780 GHDCQPCHRF CATCSGAGAD GCINCTEGYV MEEGRCVQSC SVSYYLDHSS EGGYKSCKRC 840 DNSCLTCNGP GFKNCSSCPS GYLLDLGTCQ MGAICKDGEY IDDQGHCQTC EASCAKCWGP 900 TQEDCISCPV TRVLDDGRCV MNCPSWKFEF KKQCHPCHYT CQGCQGSGPS NCTSCRADKH 960 GQERFLYHGE CLENCPVGHY PAKGHACLPC PDNCELCYNP HVCSRCMSGY VIIPPNHTCQ 1020 KLECRQGEFQ DSEYEECMPC EEGCLGCTED DPGACTSCAT GYYMFERHCY KACPEKTFGV 1080 KWECRACGTN CGSCDQHECY WCEEGFFLSG GSCVQDCGPG FHGDQELGEC KPCHRACENC 1140 TGSGYNQCSS CQEGLQLWHG TCLWSTWPQV EGKDWNEAVP TEKPSLVRSL LQDRRKWKVQ 1200 IKRDATSQNQ PCHSSCKTCN GSLCASCPTG MYLWLQACVP SCPQGTWPSV TSGSCEKCSE 1260 DCVSCSGADL CQQCLSQPDN TLLLHEGRCY HSCPEGFYAK DGVCEHCSSP CKTCEGNATS 1320 CNSCEGDFVL DHGVCWKTCP EKHVAVEGVC KHCPERCQDC IHEKTCKECM PDFFLYNDMC 1380 HRSCPKSFYP DMRQCVPCHK NCLECNGPKE DDCKVCADTS KALHNGLCLD ECPEGTYKEE 1440 ENDECRDCPE SCLICSSAWT CLACREGFTV VHDVCTAPKE CAAVEYWDEG SHRCQPCHKK 1500 CSRCSGPSED QCYTCPRETF LLNTTCVKEC PEGYHTDKDS QQCVLCHSSC RTCEGPHSMQ 1560 CLSCRPGWFQ LGKECLLQCR DGYYGESTSG RCEKCDKSCK SCRGPRPTDC QSCDTFFFLL 1620 RSKGQCHRAC PEHYYADQHA QTCERCHPTC DKCSGKEAWS CLSCVWSYHL LKGICIPECI 1680 VGEYREGKGE NFNCKKCHES CMECKGPGSK NCTGCSAGLL LDMDDNRCLH CCNASHSRRS 1740 QDCCDCQSST DECILPAREA EFYEHTKTAL LVTSGAMLLL LLGAAAVVWR KSRSRPVAKG 1800 RYEKLAEPTV SYSSYRSSYL DEDQVIEYRD RDYDEDDEDD IVYMGQDGTV YRKFKYGLLD 1860 ETEDDELEYD DESYSYQ 1877 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004175 | endopeptidase activity | ISO |
| GO:0004175 | endopeptidase activity | IDA |
| GO:0004252 | serine-type endopeptidase activity | ISO |
| GO:0004252 | serine-type endopeptidase activity | IBA |
| GO:0004252 | serine-type endopeptidase activity | IDA |
| GO:0008233 | peptidase activity | ISO |
| GO:0042277 | peptide binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001822 | kidney development | ISO |
| GO:0001822 | kidney development | IMP |
| GO:0002001 | renin secretion into blood stream | IEA |
| GO:0003279 | cardiac septum development | IMP |
| GO:0006465 | signal peptide processing | ISO |
| GO:0007368 | determination of left/right symmetry | IMP |
| GO:0007507 | heart development | IMP |
| GO:0007566 | embryo implantation | IMP |
| GO:0009952 | anterior/posterior pattern specification | ISO |
| GO:0009952 | anterior/posterior pattern specification | IMP |
| GO:0016485 | protein processing | ISO |
| GO:0016485 | protein processing | IDA |
| GO:0016485 | protein processing | IBA |
| GO:0016486 | peptide hormone processing | ISO |
| GO:0016486 | peptide hormone processing | IDA |
| GO:0016486 | peptide hormone processing | IBA |
| GO:0019058 | viral life cycle | IDA |
| GO:0030323 | respiratory tube development | IMP |
| GO:0033625 | positive regulation of integrin activation | ISO |
| GO:0035108 | limb morphogenesis | IMP |
| GO:0042089 | cytokine biosynthetic process | IDA |
| GO:0043043 | peptide biosynthetic process | ISO |
| GO:0043043 | peptide biosynthetic process | IDA |
| GO:0048566 | embryonic digestive tract development | ISO |
| GO:0048566 | embryonic digestive tract development | IMP |
| GO:0048706 | embryonic skeletal system development | ISO |
| GO:0048706 | embryonic skeletal system development | IMP |
| GO:0060976 | coronary vasculature development | IMP |
| GO:1904754 | positive regulation of vascular associated smooth muscle cell migration | ISO |
| GO:1905609 | positive regulation of smooth muscle cell-matrix adhesion | ISO |
| GO:2001046 | positive regulation of integrin-mediated signaling pathway | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005615 | extracellular space | HDA |
| GO:0005615 | extracellular space | IDA |
| GO:0005788 | endoplasmic reticulum lumen | TAS |
| GO:0005794 | Golgi apparatus | ISO |
| GO:0005797 | Golgi medial cisterna | ISO |
| GO:0005802 | trans-Golgi network | ISO |
| GO:0005802 | trans-Golgi network | IBA |
| GO:0005886 | plasma membrane | ISO |
| GO:0016020 | membrane | IBA |
| GO:0030173 | integral component of Golgi membrane | IBA |
| GO:0043204 | perikaryon | ISO |
| GO:1990635 | proximal dendrite | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-166520 | Signaling by NTRKs | IEA |
| R-MMU-167060 | NGF processing | IEA |
| R-MMU-174824 | Plasma lipoprotein assembly, remodeling, and clearance | IEA |
| R-MMU-382551 | Transport of small molecules | IEA |
| R-MMU-8963889 | Assembly of active LPL and LIPC lipase complexes | IEA |
| R-MMU-8963899 | Plasma lipoprotein remodeling | IEA |
| R-MMU-9006934 | Signaling by Receptor Tyrosine Kinases | IEA |
| R-MMU-9036866 | Expression and Processing of Neurotrophins | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0165 | Cleavage on pair of basic residues |
| KW-0903 | Direct protein sequencing |
| KW-0325 | Glycoprotein |
| KW-0378 | Hydrolase |
| KW-0472 | Membrane |
| KW-0635 | Pregnancy |
| KW-0645 | Protease |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0964 | Secreted |
| KW-0720 | Serine protease |
| KW-0732 | Signal |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0865 | Zymogen |
| InterPro ID | InterPro Term |
|---|---|
| IPR000742 | EGF-like_dom |
| IPR006212 | Furin_repeat |
| IPR008979 | Galactose-bd-like_sf |
| IPR032778 | GF_recep_IV |
| IPR009030 | Growth_fac_rcpt_cys_sf |
| IPR034182 | Kexin/furin |
| IPR002884 | P_dom |
| IPR000209 | Peptidase_S8/S53_dom |
| IPR036852 | Peptidase_S8/S53_dom_sf |
| IPR023827 | Peptidase_S8_Asp-AS |
| IPR022398 | Peptidase_S8_His-AS |
| IPR023828 | Peptidase_S8_Ser-AS |
| IPR015500 | Peptidase_S8_subtilisin-rel |
| IPR032815 | S8_pro-domain |
| IPR038466 | S8_pro-domain_sf |