SBF2
Miotubularinu srodni protein 13 je protein koji je kod ljudi kodiran genom SBF2.[5][6]
Porodica proteina povezanih s miotubularinom uključuje lipidne fosfataze, poput MTM1 (MIM 600415), i pseudofosfataze, poput SBF1 (MIM 603560) i SBF2. Pseudofosfataze sadrže inaktivirajuće supstitucije na katalitičkom cisteinu (prema OMIM).[6]
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 1.840 aminokiselina, а molekulska težina 208.464 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MARLADYFIV | VGYDHEKPGS | GEGLGKIIQR | FPQKDWDDTP | FPQGIELFCQ | ||||
| PGGWQLSRER | KQPTFFVVVL | TDIDSDRHYC | SCLTFYEAEI | NLQGTKKEEI | ||||
| EGEAKVSGLI | QPAEVFAPKS | LVLVSRLYYP | EIFRACLGLI | YTVYVDSLNV | ||||
| SLESLIANLC | ACLVPAAGGS | QKLFSLGAGD | RQLIQTPLHD | SLPITGTSVA | ||||
| LLFQQLGIQN | VLSLFCAVLT | ENKVLFHSAS | FQRLSDACRA | LESLMFPLKY | ||||
| SYPYIPILPA | QLLEVLSSPT | PFIIGVHSVF | KTDVHELLDV | IIADLDGGTI | ||||
| KIPECIHLSS | LPEPLLHQTQ | SALSLILHPD | LEVADHAFPP | PRTALSHSKM | ||||
| LDKEVRAVFL | RLFAQLFQGY | RSCLQLIRIH | AEPVIHFHKT | AFLGQRGLVE | ||||
| NDFLTKVLSG | MAFAGFVSER | GPPYRSCDLF | DELVAFEVER | IKVEENNPVK | ||||
| MIKHVRELAE | QLFKNENPNP | HMAFQKVPRP | TEGSHLRVHI | LPFPEINEAR | ||||
| VQELIQENVA | KNQNAPPATR | IEKKCVVPAG | PPVVSIMDKV | TTVFNSAQRL | ||||
| EVVRNCISFI | FENKILETEK | TLPAALRALK | GKAARQCLTD | ELGLHVQQNR | ||||
| AILDHQQFDY | IIRMMNCTLQ | DCSSLEEYNI | AAALLPLTSA | FYRKLAPGVS | ||||
| QFAYTCVQDH | PIWTNQQFWE | TTFYNAVQEQ | VRSLYLSAKE | DNHAPHLKQK | ||||
| DKLPDDHYQE | KTAMDLAAEQ | LRLWPTLSKS | TQQELVQHEE | STVFSQAIHF | ||||
| ANLMVNLLVP | LDTSKNKLLR | TSAPGDWESG | SNSIVTNSIA | GSVAESYDTE | ||||
| SGFEDSENTD | IANSVVRFIT | RFIDKVCTES | GVTQDHIKSL | HCMIPGIVAM | ||||
| HIETLEAVHR | ESRRLPPIQK | PKILRPALLP | GEEIVCEGLR | VLLDPDGREE | ||||
| ATGGLLGGPQ | LLPAEGALFL | TTYRILFRGT | PHDQLVGEQT | VVRSFPIASI | ||||
| TKEKKITMQN | QLQQNMQEGL | QITSASFQLI | KVAFDEEVSP | EVVEIFKKQL | ||||
| MKFRYPQSIF | STFAFAAGQT | TPQIILPKQK | EKNTSFRTFS | KTIVKGAKRA | ||||
| GKMTIGRQYL | LKKKTGTIVE | ERVNRPGWNE | DDDVSVSDES | ELPTSTTLKA | ||||
| SEKSTMEQLV | EKACFRDYQR | LGLGTISGSS | SRSRPEYFRI | TASNRMYSLC | ||||
| RSYPGLLVVP | QAVQDSSLPR | VARCYRHNRL | PVVCWKNSRS | GTLLLRSGGF | ||||
| HGKGVVGLFK | SQNSPQAAPT | SSLESSSSIE | QEKYLQALLN | AVSVHQKLRG | ||||
| NSTLTVRPAF | ALSPGVWASL | RSSTRLISSP | TSFIDVGARL | AGKDHSASFS | ||||
| NSSYLQNQLL | KRQAALYIFG | EKSQLRNFKV | EFALNCEFVP | VEFHEIRQVK | ||||
| ASFKKLMRAC | IPSTIPTDSE | VTFLKALGDS | EWFPQLHRIM | QLAVVVSEVL | ||||
| ENGSSVLVCL | EEGWDITAQV | TSLVQLLSDP | FYRTLEGFQM | LVEKEWLSFG | ||||
| HKFSQRSSLT | LNCQGSGFAP | VFLQFLDCVH | QVHNQYPTEF | EFNLYYLKFL | ||||
| AFHYVSNRFK | TFLLDSDYER | LEHGTLFDDK | GEKHAKKGVC | IWECIDRMHK | ||||
| RSPIFFNYLY | SPLEIEALKP | NVNVSSLKKW | DYYIEETLST | GPSYDWMMLT | ||||
| PKHFPSEDSD | LAGEAGPRSQ | RRTVWPCYDD | VSCTQPDALT | SLFSEIEKLE | ||||
| HKLNQAPEKW | QQLWERVTVD | LKEEPRTDRS | QRHLSRSPGI | VSTNLPSYQK | ||||
| RSLLHLPDSS | MGEEQNSSIS | PSNGVERRAA | TLYSQYTSKN | DENRSFEGTL | ||||
| YKRGALLKGW | KPRWFVLDVT | KHQLRYYDSG | EDTSCKGHID | LAEVEMVIPA | ||||
| GPSMGAPKHT | SDKAFFDLKT | SKRVYNFCAQ | DGQSAQQWMD | KIQSCISDA |
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000133812 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038371 - 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.
- ^ Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM (Mar 2000). "Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15". Genomics. 62 (3): 344–9. doi:10.1006/geno.1999.6028. PMID 10644431.
- ^ a b "Entrez Gene: SBF2 SET binding factor 2".
- ^ "UniProt, Q86WG5". Pristupljeno 27. 8. 2021.
Dopunska literatura
uredi- Gambardella A, Bolino A, Muglia M, et al. (1998). "Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)". Neurology. 50 (3): 799–801. doi:10.1212/wnl.50.3.799. PMID 9521281. S2CID 27056666.
- Nagase T, Kikuno R, Hattori A, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (6): 347–55. doi:10.1093/dnares/7.6.347. PMID 11214970.
- 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.
- Senderek J, Bergmann C, Weber S, et al. (2003). "Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15". Hum. Mol. Genet. 12 (3): 349–56. doi:10.1093/hmg/ddg030. PMID 12554688.
- Azzedine H, Bolino A, Taïeb T, et al. (2003). "Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma". Am. J. Hum. Genet. 72 (5): 1141–53. doi:10.1086/375034. PMC 1180267. PMID 12687498.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Hirano R, Takashima H, Umehara F, et al. (2005). "SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma". Neurology. 63 (3): 577–80. doi:10.1212/01.wnl.0000133211.40288.9a. PMID 15304601. S2CID 34376413.
- Conforti FL, Muglia M, Mazzei R, et al. (2005). "A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)". Neurology. 63 (7): 1327–8. doi:10.1212/01.wnl.0000140617.02312.80. PMID 15477569. S2CID 11800190.
- 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.
- Robinson FL, Dixon JE (2005). "The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease". J. Biol. Chem. 280 (36): 31699–707. doi:10.1074/jbc.M505159200. PMID 15998640.
- 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.