ADAMTS2
| ADAMTS2 | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | ADAMTS2 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 604539 MGI: 1347356 HomoloGene: 8597 GeneCards: ADAMTS2 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
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| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | n/a | Chr 11: 50.49 – 50.7 Mb | |||||||||||||||||||||||
| PubMed pretraga | [2] | [3] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Disintegrin i metaloproteinaza sa trombospondinskim motivom 2 (ADAM-TS2), znana i kao prokolagenska I N-proteinaza (PC I-NP) je enzim[4] koji je kod ljudi kodiran genom ADAMTS2.[5][6]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 1.211 aminokiselina, а molekulska težina 134.755 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MDPPAGAARR | LLCPALLLLL | LLLPPPLLPP | PPPPANARLA | AAADPPGGPL | ||||
| GHGAERILAV | PVRTDAQGRL | VSHVVSAATS | RAGVRARRAA | PVRTPSFPGG | ||||
| NEEEPGSHLF | YNVTVFGRDL | HLRLRPNARL | VAPGATMEWQ | GEKGTTRVEP | ||||
| LLGSCLYVGD | VAGLAEASSV | ALSNCDGLAG | LIRMEEEEFF | IEPLEKGLAA | ||||
| QEAEQGRVHV | VYRRPPTSPP | LGGPQALDTG | ASLDSLDSLS | RALGVLEEHA | ||||
| NSSRRRARRH | AADDDYNIEV | LLGVDDSVVQ | FHGKEHVQKY | LLTLMNIVNE | ||||
| IYHDESLGAH | INVVLVRIIL | LSYGKSMSLI | EIGNPSQSLE | NVCRWAYLQQ | ||||
| KPDTGHDEYH | DHAIFLTRQD | FGPSGMQGYA | PVTGMCHPVR | SCTLNHEDGF | ||||
| SSAFVVAHET | GHVLGMEHDG | QGNRCGDEVR | LGSIMAPLVQ | AAFHRFHWSR | ||||
| CSQQELSRYL | HSYDCLLDDP | FAHDWPALPQ | LPGLHYSMNE | QCRFDFGLGY | ||||
| MMCTAFRTFD | PCKQLWCSHP | DNPYFCKTKK | GPPLDGTMCA | PGKHCFKGHC | ||||
| IWLTPDILKR | DGSWGAWSPF | GSCSRTCGTG | VKFRTRQCDN | PHPANGGRTC | ||||
| SGLAYDFQLC | SRQDCPDSLA | DFREEQCRQW | DLYFEHGDAQ | HHWLPHEHRD | ||||
| AKERCHLYCE | SRETGEVVSM | KRMVHDGTRC | SYKDAFSLCV | RGDCRKVGCD | ||||
| GVIGSSKQED | KCGVCGGDNS | HCKVVKGTFT | RSPKKHGYIK | MFEIPAGARH | ||||
| LLIQEVDATS | HHLAVKNLET | GKFILNEEND | VDASSKTFIA | MGVEWEYRDE | ||||
| DGRETLQTMG | PLHGTITVLV | IPVGDTRVSL | TYKYMIHEDS | LNVDDNNVLE | ||||
| EDSVVYEWAL | KKWSPCSKPC | GGGSQFTKYG | CRRRLDHKMV | HRGFCAALSK | ||||
| PKAIRRACNP | QECSQPVWVT | GEWEPCSQTC | GRTGMQVRSV | RCIQPLHDNT | ||||
| TRSVHAKHCN | DARPESRRAC | SRELCPGRWR | AGPWSQCSVT | CGNGTQERPV | ||||
| LCRTADDSFG | ICQEERPETA | RTCRLGPCPR | NISDPSKKSY | VVQWLSRPDP | ||||
| DSPIRKISSK | GHCQGDKSIF | CRMEVLSRYC | SIPGYNKLCC | KSCNLYNNLT | ||||
| NVEGRIEPPP | GKHNDIDVFM | PTLPVPTVAM | EVRPSPSTPL | EVPLNASSTN | ||||
| ATEDHPETNA | VDEPYKIHGL | EDEVQPPNLI | PRRPSPYEKT | RNQRIQELID | ||||
| EMRKKEMLGK | F |
Gen
[uredi | uredi izvor]Gen ADAMTS2 nalazi se na dugom (q) kraku hromosoma 5 na kraju kraka, između baznih parova 178,473.473 i 178,704.934.
Funkcija
[uredi | uredi izvor]ADAMTS2 je odgovoran za obradu nekoliko tipova prokolagenskih proteina. Prokolageni su prekursori kolagena, proteina koji dodaju snagu i podršku mnogim tjelesnim tkivima. Konkretno, ovaj enzim uklanja kratki lanac aminokiselina s jednog kraja prokolagena. Ovaj korak skraćivanja neophodan je za molekule kolagena za normalno funkcioniranje i sastavljanje u vlakna izvan ćelija.
Klinički značaj
[uredi | uredi izvor]Mutacijama u genu ADAMTS2 uzrokovan je Ehlers-Danlosov sindrom, dermatosparaksni tip.[6] Nekoliko mutacija u genu ADAMTS2 identificirano je kod ljudi s ovim sindromom. Ove mutacije uveliko smanjuju proizvodnju enzima kojeg kodira gen ADAMTS2. Prokolagen se ne može pravilno preraditi bez ovog enzima. Kao rezultat toga, kolagenske fibrile nisu pravilno sastavljene; pod mikroskopom izgledaju poput vrpci i neorganizirano. Uspješne veze ili hemijske interakcije između kolagenih vlakana također su pogođene. Ovi nedostaci slabe vezivno tkivo (tkivo koje veže i podržava tjelesne mišiće, ligamente, organe i kožu), što uzrokuje znakove i simptome poremećaja.
Također pogledajte
[uredi | uredi izvor]Reference
[uredi | uredi izvor]- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036545 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Tang BL, Hong W (februar 1999). "ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats". FEBS Lett. 445 (2–3): 223–5. doi:10.1016/S0014-5793(99)00119-2. PMID 10094461. S2CID 37955930.
- ^ "Entrez Gene: ADAM metallopeptidase with thrombospondin type 1 motif".
- ^ a b Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV (oktobar 2004). "Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene". J. Invest. Dermatol. 123 (4): 656–63. doi:10.1111/j.0022-202X.2004.23406.x. PMID 15373769.[mrtav link]
- ^ "UniProt, O95450" (jezik: engleski). Pristupljeno 12. 10. 2021.
Dopunska literatura
[uredi | uredi izvor]- Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS (maj 2003). "Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase". J. Biol. Chem. 278 (21): 19549–57. doi:10.1074/jbc.M300767200. PMID 12646579.
- Reardon W, Winter RM, Smith LT, et al. (1995). "The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)". Clin. Dysmorphol. 4 (1): 1–11. doi:10.1097/00019605-199501000-00001. PMID 7735500. S2CID 2412884.
- Colige A, Vandenberghe I, Thiry M, et al. (2002). "Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3". J. Biol. Chem. 277 (8): 5756–66. doi:10.1074/jbc.M105601200. PMID 11741898.
- Kevorkian L, Young DA, Darrah C, et al. (2004). "Expression profiling of metalloproteinases and their inhibitors in cartilage". Arthritis Rheum. 50 (1): 131–41. doi:10.1002/art.11433. PMID 14730609.
- Hurskainen TL, Hirohata S, Seldin MF, Apte SS (1999). "ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family". J. Biol. Chem. 274 (36): 25555–63. doi:10.1074/jbc.274.36.25555. PMID 10464288.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Dubail J, Kesteloot F, Deroanne C, et al. (2010). "ADAMTS-2 functions as anti-angiogenic and anti-tumoral molecule independently of its catalytic activity" (PDF). Cellular and Molecular Life Sciences. 67 (24): 4213–32. doi:10.1007/s00018-010-0431-6. PMID 20574651. S2CID 20047628. Arhivirano s originala (PDF), 26. 2. 2022. Pristupljeno 12. 10. 2021.
- Colige A, Sieron AL, Li SW, et al. (1999). "Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene". Am. J. Hum. Genet. 65 (2): 308–17. doi:10.1086/302504. PMC 1377929. PMID 10417273.
- Hartley JL, Temple GF, Brasch MA (2000). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Tang BL (2001). "ADAMTS: a novel family of extracellular matrix proteases". Int. J. Biochem. Cell Biol. 33 (1): 33–44. doi:10.1016/S1357-2725(00)00061-3. PMID 11167130.
- Lasky-Su J, Anney RJ, Neale BM, et al. (2008). "Genome-wide association scan of the time to onset of Attention Deficit Hyperactivity Disorder". Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (8): 1355–8. doi:10.1002/ajmg.b.30869. PMC 2605611. PMID 18937294.
- Colige A, Ruggiero F, Vandenberghe I, et al. (2005). "Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V". J. Biol. Chem. 280 (41): 34397–408. doi:10.1074/jbc.M506458200. PMID 16046392.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Brandenberger R, Wei H, Zhang S, et al. (2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
- Tomii Y, Kamochi J, Yamazaki H, et al. (2002). "Human thrombospondin 2 inhibits proliferation of microvascular endothelial cells". Int. J. Oncol. 20 (2): 339–42. doi:10.3892/ijo.20.2.339. PMID 11788898.
Vanjski linkovi
[uredi | uredi izvor]- GeneCard
- The MEROPS online database for peptidases and their inhibitors: M12.301[mrtav link]
- Lokacija ljudskog genoma ADAMTS2 i stranica sa detaljima o genu ADAMTS2 u UCSC Genome Browseru.
