EXTL1
Egzostozinoliki protein 1 jest protein koji je kod ljudi kodiran genom EXTL1 sa hromosoma 1.[5][6]
Amiokiselininska sekvenca uredi
Dužina polipeptidnog lanca je 676 aminokiselina, a molekulska težina 74.697 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MQSWRRRKSL | WLALSASWLL | LVLLGGFSLL | RLALPPRPRP | GASQGWPRWL | ||||
| DAELLQSFSQ | PGELPEDAVS | PPQAPHGGSC | NWESCFDTSK | CRGDGLKVFV | ||||
| YPAVGTISET | HRRILASIEG | SRFYTFSPAG | ACLLLLLSLD | AQTGECSSMP | ||||
| LQWNRGRNHL | VLRLHPAPCP | RTFQLGQAMV | AEASPTVDSF | RPGFDVALPF | ||||
| LPEAHPLRGG | APGQLRQHSP | QPGVALLALE | EERGGWRTAD | TGSSACPWDG | ||||
| RCEQDPGPGQ | TQRQETLPNA | TFCLISGHRP | EAASRFLQAL | QAGCIPVLLS | ||||
| PRWELPFSEV | IDWTKAAIVA | DERLPLQVLA | ALQEMSPARV | LALRQQTQFL | ||||
| WDAYFSSVEK | VIHTTLEVIQ | DRIFGTSAHP | SLLWNSPPGA | LLALSTFSTS | ||||
| PQDFPFYYLQ | QGSRPEGRFS | ALIWVGPPGQ | PPLKLIQAVA | GSQHCAQILV | ||||
| LWSNERPLPS | RWPETAVPLT | VIDGHRKVSD | RFYPYSTIRT | DAILSLDARS | ||||
| SLSTSEVDFA | FLVWQSFPER | MVGFLTSSHF | WDEAHGGWGY | TAERTNEFSM | ||||
| VLTTAAFYHR | YYHTLFTHSL | PKALRTLADE | APTCVDVLMN | FIVAAVTKLP | ||||
| PIKVPYGKQR | QEAAPLAPGG | PGPRPKPPAP | APDCINQIAA | AFGHMPLLSS | ||||
| RLRLDPVLFK | DPVSVQRKKY | RSLEKP |
Funkcija uredi
Ovaj gen je član porodice višestrukih egzostozinskih (EXT) glikoziltransferaza, koje funkcionišu u lančanoj polimerizaciji heparan-sulfata i heparina. Kodirani protein ima aktivnost alfa 1,4-N-acetilglukozaminiltransferaze i uključen je u elongaciju lanca heparan-sulfata i možda heparina.[6]
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000158008 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028838 - 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.
- ^ Wise CA, Clines GA, Massa H, Trask BJ, Lovett M (maj 1997). "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family". Genome Res. 7 (1): 10–6. doi:10.1101/gr.7.1.10. PMID 9037597.
- ^ a b "Entrez Gene: EXTL1 exostoses (multiple)-like 1".
- ^ "UniProt, Q92935" (jezik: engleski). Pristupljeno 25. 11. 2021.
Dopunska literatura uredi
- Zak BM, Crawford BE, Esko JD (2003). "Hereditary multiple exostoses and heparan sulfate polymerization". Biochim. Biophys. Acta. 1573 (3): 346–55. doi:10.1016/S0304-4165(02)00402-6. PMID 12417417.
- Xu L, Xia J, Jiang H, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50. doi:10.1007/s004390051062. PMID 10480354.
- Wuyts W, Spieker N, Van Roy N, et al. (2000). "Refined physical mapping and genomic structure of the EXTL1 gene". Cytogenet. Cell Genet. 86 (3–4): 267–70. doi:10.1159/000015317. PMID 10575224. S2CID 43018785.
- Kim BT, Kitagawa H, Tamura J, et al. (2001). "Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode α1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7176–81. Bibcode:2001PNAS...98.7176K. doi:10.1073/pnas.131188498. PMC 34642. PMID 11390981.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Mathysen D, Van Roy N, Van Hul W, et al. (2004). "Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines". Eur. J. Cancer. 40 (8): 1255–61. doi:10.1016/j.ejca.2004.01.013. PMID 15110891.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- 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.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.