| Tag | Content |
|---|---|
| Uniprot ID | P59510; A6NNC9; J3QT00; |
| Entrez ID | 80070 |
| Genbank protein ID | EAW57861.1; CAD56159.3; AAO15766.1; CAD56160.2; |
| Genbank nucleotide ID | NM_025003.4 |
| Ensembl protein ID | ENSP00000374071 |
| Ensembl nucleotide ID | ENSG00000173157 |
| Gene name | A disintegrin and metalloproteinase with thrombospondin motifs 20 |
| Gene symbol | ADAMTS20 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 25798845 |
| Functional description | May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease-independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain. |
| Sequence | MWVAKWLTGL LYHLSLFITR SWEVDFHPRQ EALVRTLTSY EVVIPERVNE FGEVFPQSHH 60 FSRQKRSSEA LEPMPFRTHY RFTAYGQLFQ LNLTADASFL AAGYTEVHLG TPERGAWESD 120 AGPSDLRHCF YRGQVNSQED YKAVVSLCGG LTGTFKGQNG EYFLEPIMKA DGNEYEDGHN 180 KPHLIYRQDL NNSFLQTLKY CSVSESQIKE TSLPFHTYSN MNEDLNVMKE RVLGHTSKNV 240 PLKDERRHSR KKRLISYPRY IEIMVTADAK VVSAHGSNLQ NYILTLMSIV ATIYKDPSIG 300 NLIHIVVVKL VMIHREEEGP VINFDGATTL KNFCSWQQTQ NDLDDVHPSH HDTAVLITRE 360 DICSSKEKCN MLGLSYLGTI CDPLQSCFIN EEKGLISAFT IAHELGHTLG VQHDDNPRCK 420 EMKVTKYHVM APALSFHMSP WSWSNCSRKY VTEFLDTGYG ECLLDKPDEE IYNLPSELPG 480 SRYDGNKQCE LAFGPGSQMC PHINICMHLW CTSTEKLHKG CFTQHVPPAD GTDCGPGMHC 540 RHGLCVNKET ETRPVNGEWG PWEPYSSCSR TCGGGIESAT RRCNRPEPRN GGNYCVGRRM 600 KFRSCNTDSC PKGTQDFREK QCSDFNGKHL DISGIPSNVR WLPRYSGIGT KDRCKLYCQV 660 AGTNYFYLLK DMVEDGTPCG TETHDICVQG QCMAAGCDHV LNSSAKIDKC GVCGGDNSSC 720 KTITGVFNSS HYGYNVVVKI PAGATNVDIR QYSYSGQPDD SYLALSDAEG NFLFNGNFLL 780 STSKKEINVQ GTRTVIEYSG SNNAVERINS TNRQEKEILI EVLCVGNLYN PDVHYSFNIP 840 LEERSDMFTW DPYGPWEGCT KMCQGLQRRN ITCIHKSDHS VVSDKECDHL PLPSFVTQSC 900 NTDCELRWHV IGKSECSSQC GQGYRTLDIH CMKYSIHEGQ TVQVDDHYCG DQLKPPTQEL 960 CHGNCVFTRW HYSEWSQCSR SCGGGERSRE SYCMNNFGHR LADNECQELS RVTRENCNEF 1020 SCPSWAASEW SECLVTCGKG TKQRQVWCQL NVDHLSDGFC NSSTKPESLS PCELHTCASW 1080 QVGPWGPCTT TCGHGYQMRD VKCVNELASA VLEDTECHEA SRPSDRQSCV LTPCSFISKL 1140 ETALLPTVLI KKMAQWRHGS WTPCSVSCGR GTQARYVSCR DALDRIADES YCAHLPRPAE 1200 IWDCFTPCGE WQAGDWSPCS ASCGHGKTTR QVLCMNYHQP IDENYCDPEV RPLMEQECSL 1260 AACPPAHSHF PSSPVQPSYY LSTNLPLTQK LEDNENQVVH PSVRGNQWRT GPWGSCSSSC 1320 SGGLQHRAVV CQDENGQSAS YCDAASKPPE LQQCGPGPCP QWNYGNWGEC SQTCGGGIKS 1380 RLVICQFPNG QILEDHNCEI VNKPPSVIQC HMHACPADVS WHQEPWTSCS ASCGKGRKYR 1440 EVFCIDQFQR KLEDTNCSQV QKPPTHKACR SVRCPSWKAN SWNECSVTCG SGVQQRDVYC 1500 RLKGVGQVVE EMCDQSTRPC SQRRCWSQDC VQHKGMERGR LNCSTSCERK DSHQRMECTD 1560 NQIRQVNEIV YNSSTISLTS KNCRNPPCNY IVVTADSSQC ANNCGFSYRQ RITYCTEIPS 1620 TKKHKLHRLR PIVYQECPVV PSSQVYQCIN SCLHLATWKV GKWSKCSVTC GIGIMKRQVK 1680 CITKHGLSSD LCLNHLKPGA QKKCYANDCK SFTTCKEIQV KNHIRKDGDY YLNIKGRIIK 1740 IYCADMYLEN PKEYLTLVQG EENFSEVYGF RLKNPYQCPF NGSRREDCEC DNGHLAAGYT 1800 VFSKIRIDLT SMQIKTTDLL FSKTIFGNAV PFATAGDCYS AFRCPQGQFS INLSGTGMKI 1860 SSTAKWLTQG SYTSVSIRRS EDGTRFFGKC GGYCGKCLPH MTTGLPIQVI |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | ADAMTS20 | 536137 | E1B900 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | ADAMTS20 | A0A452GAZ8 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | ADAMTS20 | 100054665 | F6PZV0 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | ADAMTS20 | 80070 | P59510 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Adamts20 | 223838 | P59511 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | ADAMTS20 | A0A2I3SSY2 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | Adamts20 | D3ZN23 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| ADAMTS20 | rs10785430 | GWAS | 25798845 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004222 | metalloendopeptidase activity | IEA |
| GO:0008270 | zinc ion binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006508 | proteolysis | IEA |
| GO:0009967 | positive regulation of signal transduction | IEA |
| GO:0030198 | extracellular matrix organization | IEA |
| GO:0043066 | negative regulation of apoptotic process | IEA |
| GO:0045636 | positive regulation of melanocyte differentiation | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005615 | extracellular space | IEA |
| GO:0062023 | collagen-containing extracellular matrix | TAS |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-HSA-1643685 | Disease | TAS |
| R-HSA-3781865 | Diseases of glycosylation | TAS |
| R-HSA-3906995 | Diseases associated with O-glycosylation of proteins | TAS |
| R-HSA-392499 | Metabolism of proteins | TAS |
| R-HSA-5083635 | Defective B3GALTL causes Peters-plus syndrome (PpS) | TAS |
| R-HSA-5173105 | O-linked glycosylation | TAS |
| R-HSA-5173214 | O-glycosylation of TSR domain-containing proteins | TAS |
| R-HSA-597592 | Post-translational protein modification | TAS |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0165 | Cleavage on pair of basic residues |
| KW-1015 | Disulfide bond |
| KW-0272 | Extracellular matrix |
| KW-0325 | Glycoprotein |
| KW-0378 | Hydrolase |
| KW-0479 | Metal-binding |
| KW-0482 | Metalloprotease |
| KW-0621 | Polymorphism |
| KW-0645 | Protease |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0964 | Secreted |
| KW-0732 | Signal |
| KW-0862 | Zinc |
| KW-0865 | Zymogen |