NHLRC1
Protein 1 sa NHL-ponavljanjem jest protein koji je kod ljudi kodiran genom NHLRC1.[5][6]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 395 aminokiselina, а molekulska težina 42.293 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAAEASESGP | ALHELMREAE | ISLLECKVCF | EKFGHRQQRR | PRNLSCGHVV | ||||
| CLACVAALAH | PRTLALECPF | CRRACRGCDT | SDCLPVLHLI | ELLGSALRQS | ||||
| PAAHRAAPSA | PGALTCHHTF | GGWGTLVNPT | GLALCPKTGR | VVVVHDGRRR | ||||
| VKIFDSGGGC | AHQFGEKGDA | AQDIRYPVDV | TITNDCHVVV | TDAGDRSIKV | ||||
| FDFFGQIKLV | IGGQFSLPWG | VETTPQNGIV | VTDAEAGSLH | LLDVDFAEGV | ||||
| LRRTERLQAH | LCNPRGVAVS | WLTGAIAVLE | HPLALGTGVC | STRVKVFSSS | ||||
| MQLVGQVDTF | GLSLYFPSKI | TASAVTFDHQ | GNVIVADTSG | PAILCLGKPE | ||||
| EFPVPKPMVT | HGLSHPVALT | FTKENSLLVL | DTASHSIKVY | KVDWG |
Također pogledajte
[uredi | uredi izvor]Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000187566 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044231 - 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.
- ^ Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW (Sep 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nat Genet. 35 (2): 125–7. doi:10.1038/ng1238. PMID 12958597. S2CID 32590557.
- ^ "Entrez Gene: NHLRC1 NHL repeat containing 1".
- ^ "UniProt, Q6VVB1" (jezik: engleski). Pristupljeno 3. 10. 2021.
Dopunska literatura
[uredi | uredi izvor]- 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.
- Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
- 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.
- Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, et al. (2006). "Lafora disease due to EPM2B mutations: a clinical and genetic study". Neurology. 64 (6): 982–6. doi:10.1212/01.WNL.0000154519.10805.F7. hdl:10261/71541. PMID 15781812. S2CID 22318884.
- Gentry MS, Worby CA, Dixon JE (2005). "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin". Proc. Natl. Acad. Sci. U.S.A. 102 (24): 8501–6. doi:10.1073/pnas.0503285102. PMC 1150849. PMID 15930137.
- Lohi H, Ianzano L, Zhao XC, et al. (2006). "Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy". Hum. Mol. Genet. 14 (18): 2727–36. doi:10.1093/hmg/ddi306. PMID 16115820.
- Singh S, Sethi I, Francheschetti S, et al. (2007). "Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy". J. Med. Genet. 43 (9): e48. doi:10.1136/jmg.2005.039479. PMC 2564581. PMID 16950819.
- Mittal S, Dubey D, Yamakawa K, Ganesh S (2007). "Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment". Hum. Mol. Genet. 16 (7): 753–62. doi:10.1093/hmg/ddm006. PMID 17337485.