Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1049 |
| RareLSD_Id | 1049 |
| ENZYME | Natriuretic Peptide Receptor B/Guanylate Cyclase B |
| GENE | NPR2 |
| E.C.NUMBER | 4.6.1.2 |
| FAMILY | adenylyl cyclase class-4/guanylyl cyclase |
| CYTOGENETICS | 9p13.3 |
| DISEASE | Acromesomelic Dysplasia-Maroteaux Type |
| SNP | rs28931581,rs28931582,rs28929479,rs587777596 |
| DEPOSIT | NA |
| REF | 15146390, 17652215, 26980729 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 7.4 |
| Catalytic Nucleophile | NA |
| Catalytic Acid/Base | NA |
| Substrate | GTP |
| Product | 3',5'-cyclic GMP + diphosphate |
| Structure(PDB/Phyre2_ID) | 6CES |
| kM | 0.0498-0.887 |
| DRUG | NA |
| SEQ LENGTH | 1,047 |
| AA SEQ | MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRALPVDLRFVSSELEGACSEYLAPLSAVDLKLYHDPDLLLGPGCVYPAASVARFASHWRLPLLTAGAVASGFSAKNDHYRTLVRTGPSAPKLGEFVVTLHGHFNWTARAALLYLDARTDDRPHYFTIEGVFEALQGSNLSVQHQVYAREPGGPEQATHFIRANGRIVYICGPLEMLHEILLQAQRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTREQAQALREAFQTVLVITYREPPNPEYQEFQNRLLIRAREDFGVELGPSLMNLIAGCFYDGILLYAEVLNETIQEGGTREDGLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDLDSGDFQPAAHYSGAEKQIWWTGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRKLMLEKELASMLWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANTGHFKGNVVAIKHVNKKRIELTRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCPRGSLQDILENDSINLDWMFRYSLINDLVKGMAFLHNSIISSHGSLKSSNCVVDSRFVLKITDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTTGMQKADVYSFGIILQEIALRSGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWAQDPAERPDFGQIKGFIRRFNKEGGTSILDNLLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPHSVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDVYKVETIGDAYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLRIGVHTGPVCAGVVGLKMPRYCLFGDTVNTASRMESNGQALKIH |
| MODIFICATION | N-LINKED Glycosylation:Asn24,Asn35,Asn161,Asn195,Asn244,Asn277,Asn349,Phosphorylation:Ser513,Thr516,Ser518,Ser522,Ser523,Ser526,Thr529 |
| INHIBITOR | 1H-[1,2,4]oxadiazolo[4,3-a]-quinoxalin-1-one;1H-[1,2,4]oxadiazolo[4.3a]quinoxalin-1-one;Go6976;sGC alpha1 splice variant;thrombospondin-1 |
| ACTIVE SITE RESIDUE | Ser/Thr |
| DISULPHIDE BRIDGES | *75-101,*439,*448 |
| PSEUDOGENES | PGOHUM00000289992 |
| MISCELLANEOUS | Receptor for the C-type natriuretic peptide NPPC/CNP hormone |
| PARALOGS | NPR1,GUCY2F,GUCY2D,GUCY2C,GUCY1A2,GUCY1B1,GUCY1A1 |
| MECHANISM | Two-ion Mechanism |
| INHERITANCE PATTERN | Autosomal Recessive |
| ORGAN AFFECTED | Head,Bones & Joints |
| ENZYME LOCATION | NMBH |
| UniProt ID | P20594 |