Aminokiselinska sekvenca
uredi
Dužina polipeptidnog lanca je 1.159 aminokiselina , а molekulska težina Da . 134 286[8]
10 20 30 40 50 MLDFLAENNL CGQAILRIVS CGNAIIAELL RLSEFIPAVF RLKDRADQQK YGDIIFDFSY FKGPELWESK LDAKPELQDL DEEFRENNIE IVTRFYLAFQ SVHKYIVDLN RYLDDLNEGV YIQQTLETVL LNEDGKQLLC EALYLYGVML LVIDQKIEGE VRERMLVSYY RYSAARSSAD SNMDDICKLL RSTGYSSQPG AKRPSNYPES YFQRVPINES FISMVIGRLR SDDIYNQVSA YPLPEHRSTA LANQAAMLYV ILYFEPSILH THQAKMREIV DKYFPDNWVI SIYMGITVNL VDAWEPYKAA KTALNNTLDL SNVREQASRY ATVSERVHAQ VQQFLKEGYL REEMVLDNIP KLLNCLRDCN VAIRWLMLHT ADSACDPNNK RLRQIKDQIL TDSRYNPRIL FQLLLDTAQF EFILKEMFKQ MLSEKQTKWE HYKKEGSERM TELADVFSGV KPLTRVEKNE NLQAWFREIS KQILSLNYDD STAAGRKTVQ LIQALEEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI KEEVLITMQI VGDLSFAWQL IDSFTSIMQE SIRVNPSMVT KLRATFLKLA SALDLPLLRI NQANSPDLLS VSQYYSGELV SYVRKVLQII PESMFTSLLK IIKLQTHDII EVPTRLDKDK LRDYAQLGPR YEVAKLTHAI SIFTEGILMM KTTLVGIIKV DPKQLLEDGI RKELVKRVAF ALHRGLIFNP RAKPSELMPK LKELGATMDG FHRSFEYIQD YVNIYGLKIW QEEVSRIINY NVEQECNNFL RTKIQDWQSM YQSTHIPIPK FTPVDESVTF IGRLCREILR ITDPKMTCHI DQLNTWYDMK THQEVTSSRL FSEIQTTLGT FGLNGLDRLL CFMIVKELQN FLSMFQKIIL RDRTVQDTLK TLMNAVSPLK SIVANSNKIY FSAIAKTQKI WTAYLEAIMK VGQMQILRQQ IANELNYSCR FDSKHLAAAL ENLNKALLAD IEAHYQDPSL PYPKEDNTLL YEITAYLEAA GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ LPKLQYNKNL GMVCRKPTDP VDWPPLVLGL LTLLKQFHSR YTEQFLALIG QFICSTVEQC TSQKIPEIPA DVVGALLFLE DYVRYTKLPR RVAEAHVPNF IFDEFRTVL
^ a b c GRCh38: Ensembl release 89: ENSG00000164961 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022350 - 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 .^ "Entrez Gene: KIAA0196 KIAA0196" .^ Seaman, Matthew N. J.; Gautreau, Alexis; Billadeau, Daniel D. (1. 11. 2013). "Retromer-mediated endosomal protein sorting: all WASHed up!" . Trends in Cell Biology . 23 (11): 522–528. doi :10.1016/j.tcb.2013.04.010 . ISSN 1879-3088 . PMC 3924425 PMID 23721880 . ^ Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni (16. 11. 2015). "The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8" . Orphanet Journal of Rare Diseases (jezik: engleski). 10 (1): 147. doi :10.1186/s13023-015-0359-x . ISSN 1750-1172 . PMC 4647479 PMID 26572744 . ^ "UniProt, Q12768" (jezik: engleski). Pristupljeno 19. 9. 2021 .
Dopunska literatura
uredi
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–174. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 . Nagase T, Seki N, Ishikawa K, et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1" . DNA Res . 3 (1): 17–24. doi :10.1093/dnares/3.1.17 PMID 8724849 . Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–156. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 . Hedera P, Rainier S, Alvarado D, et al. (1999). "Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q" . Am. J. Hum. Genet . 64 (2): 563–569. doi :10.1086/302258 . PMC 1377766 PMID 9973294 . 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): 16899–16903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol . 21 (5): 566–569. doi :10.1038/nbt810 . PMID 12665801 . S2CID 23783563 . Porkka KP, Tammela TL, Vessella RL, Visakorpi T (2004). "RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer". Genes Chromosomes Cancer . 39 (1): 1–10. doi :10.1002/gcc.10289 . PMID 14603436 . S2CID 46570803 . 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): 2121–2127. 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 . Valdmanis PN, Meijer IA, Reynolds A, et al. (2007). "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia" . Am. J. Hum. Genet . 80 (1): 152–161. doi :10.1086/510782 . PMC 1785307 PMID 17160902 .
Vanjski linkovi
uredi
