CBX1
Hromoboksni proteinski homolog 1 je protein koji je kod ljudi kodiran genom CBX1.[5][6]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 185 aminokiselina, a molekulska težina 21.418 Da.[7]
- Simboli
C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MGKKQNKKKV | EEVLEEEEEE | YVVEKVLDRR | VVKGKVEYLL | KWKGFSDEDN | ||||
| TWEPEENLDC | PDLIAEFLQS | QKTAHETDKS | EGGKRKADSD | SEDKGEESKP | ||||
| KKKKEESEKP | RGFARGLEPE | RIIGATDSSG | ELMFLMKWKN | SDEADLVPAK | ||||
| EANVKCPQVV | ISFYEERLTW | HSYPSEDDDK | KDDKN |
Funkcija
urediProtein je lokaliziran na heterohromatinskim mjestima, gdje posreduje utišavanje gena.[6]
Modelni organizmi
uredi| Svojstvo | Fenotip |
|---|---|
| Vijabilnost homozigota | Nenormalno |
| Studija recesivne letalnosti | Normalno |
| Plodnost | Normalno |
| Tjelesna težina | Normalno |
| Test otvorenog polja: anksioznost | Normalno |
| Neurološka procjena | Normalno |
| Snaga stiska | Normalno |
| Test vruće ploče | Normalno |
| Dismorfologija | Normalno |
| Indirektna kalorimetrija | Nenormalno |
| Test tolerancije glukoze | Normalno |
| Slušni odgovor moždanog stabla | Normalno |
| DEXA | Normalno |
| Radiografija | Normalno |
| Tjelesna temperatura | Normalno |
| Morfologija ika | Normalno |
| Klinička hemija (nalaz) | Normalno |
| Plazmatski imunoglobulini | Normalno |
| Hematologija | Normalno |
| Leukociti periferne krvi | Normalno |
| Mikronukleus test | Normalno |
| Težina srca | Normalno |
| Histopatologija oka | Normalno |
| Salmonella infekcija | Normal[8] |
| Citrobacter infekcija | Normal[9] |
| Svi testovi i analize su iz [10][11] |
U proučavanju PNPO funkcije, korišteni su modelni organizmi. Uvjetna linija nokaut-miševa, zvana Pnpotm1a (KOMP) Wtsi,[12][13] generirana je kao dio programa Međunarodnog konzorcija za miševe – visokopropusnog projekta mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.[14][15][16]
Muške i ženske životinje prolazile su standardizirani fenotipski skrining, kako bi se utvrdili efekti delecije.[10][17] Od 24 izvedena testa ina mutantnim miševima, uočene su dvije značajne abnormalnosti.[10] Tokom gestacije, nije utvrđen homozigotni mutantni embrion, pa tako nijedan nije preživio do odvikavanja. Preostali testovi su izvedeni na mutiranim heterozigotnim odraslim miševima; nisu opažene nikakve dodatne značajne abnormalnosti kod ovih životinja.[10]
Interakcije
urediPokazano je da CBX1 komunicira sa:
Također pogledajte
urediReference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000108468 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018666 - 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.
- ^ Furuta K, Chan EK, Kiyosawa K, Reimer G, Luderschmidt C, Tan EM (Jun 1997). "Heterochromatin protein HP1Hsbeta (p25beta) and its localization with centromeres in mitosis". Chromosoma. 106 (1): 11–9. doi:10.1007/s004120050219. PMID 9169582. S2CID 33460511.
- ^ a b "Entrez Gene: CBX1 chromobox homolog 1 (HP1 beta homolog Drosophila )".
- ^ "UniProt, P83916". Pristupljeno 24. 6. 2021.
- ^ "Salmonella infection data for Pnpo". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Pnpo". Wellcome Trust Sanger Institute.
- ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium". Arhivirano s originala, 3. 4. 2012. Pristupljeno 24. 6. 2021.
- ^ "Mouse Genome Informatics".
- ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
- ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
- ^ Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T (Nov 2003). "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523–35. doi:10.1016/s0092-8674(03)00930-9. PMID 14651845. S2CID 18911371.
- ^ a b Nielsen AL, Oulad-Abdelghani M, Ortiz JA, Remboutsika E, Chambon P, Losson R (Apr 2001). "Heterochromatin formation in mammalian cells: interaction between histones and HP1 proteins". Molecular Cell. 7 (4): 729–39. doi:10.1016/S1097-2765(01)00218-0. PMID 11336697.
- ^ Aagaard L, Laible G, Selenko P, Schmid M, Dorn R, Schotta G, Kuhfittig S, Wolf A, Lebersorger A, Singh PB, Reuter G, Jenuwein T (Apr 1999). "Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31". The EMBO Journal. 18 (7): 1923–38. doi:10.1093/emboj/18.7.1923. PMC 1171278. PMID 10202156.
Dopunska literatura
uredi- Lessard J, Baban S, Sauvageau G (Feb 1998). "Stage-specific expression of polycomb group genes in human bone marrow cells". Blood. 91 (4): 1216–24. doi:10.1182/blood.V91.4.1216. PMID 9454751.
- Aagaard L, Laible G, Selenko P, Schmid M, Dorn R, Schotta G, Kuhfittig S, Wolf A, Lebersorger A, Singh PB, Reuter G, Jenuwein T (Apr 1999). "Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31". The EMBO Journal. 18 (7): 1923–38. doi:10.1093/emboj/18.7.1923. PMC 1171278. PMID 10202156.
- Minc E, Allory Y, Worman HJ, Courvalin JC, Buendia B (Aug 1999). "Localization and phosphorylation of HP1 proteins during the cell cycle in mammalian cells". Chromosoma. 108 (4): 220–34. doi:10.1007/s004120050372. PMID 10460410. S2CID 12381860.
- Murzina N, Verreault A, Laue E, Stillman B (Oct 1999). "Heterochromatin dynamics in mouse cells: interaction between chromatin assembly factor 1 and HP1 proteins". Molecular Cell. 4 (4): 529–40. doi:10.1016/S1097-2765(00)80204-X. PMID 10549285.
- Nielsen AL, Ortiz JA, You J, Oulad-Abdelghani M, Khechumian R, Gansmuller A, Chambon P, Losson R (Nov 1999). "Interaction with members of the heterochromatin protein 1 (HP1) family and histone deacetylation are differentially involved in transcriptional silencing by members of the TIF1 family". The EMBO Journal. 18 (22): 6385–95. doi:10.1093/emboj/18.22.6385. PMC 1171701. PMID 10562550.
- Brasher SV, Smith BO, Fogh RH, Nietlispach D, Thiru A, Nielsen PR, Broadhurst RW, Ball LJ, Murzina NV, Laue ED (Apr 2000). "The structure of mouse HP1 suggests a unique mode of single peptide recognition by the shadow chromo domain dimer". The EMBO Journal. 19 (7): 1587–97. doi:10.1093/emboj/19.7.1587. PMC 310228. PMID 10747027.
- Zhao T, Heyduk T, Allis CD, Eissenberg JC (Sep 2000). "Heterochromatin protein 1 binds to nucleosomes and DNA in vitro". The Journal of Biological Chemistry. 275 (36): 28332–8. doi:10.1074/jbc.M003493200. PMID 10882726.
- Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T (Mar 2001). "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins". Nature. 410 (6824): 116–20. doi:10.1038/35065132. PMID 11242053. S2CID 4331863.
- Bannister AJ, Zegerman P, Partridge JF, Miska EA, Thomas JO, Allshire RC, Kouzarides T (Mar 2001). "Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain". Nature. 410 (6824): 120–4. doi:10.1038/35065138. PMID 11242054. S2CID 4334447.
- Nielsen AL, Oulad-Abdelghani M, Ortiz JA, Remboutsika E, Chambon P, Losson R (Apr 2001). "Heterochromatin formation in mammalian cells: interaction between histones and HP1 proteins". Molecular Cell. 7 (4): 729–39. doi:10.1016/S1097-2765(01)00218-0. PMID 11336697.
- Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M, Lamond AI (Jan 2002). "Directed proteomic analysis of the human nucleolus". Current Biology. 12 (1): 1–11. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298. S2CID 14132033.
- Scholzen T, Endl E, Wohlenberg C, van der Sar S, Cowell IG, Gerdes J, Singh PB (Feb 2002). "The Ki-67 protein interacts with members of the heterochromatin protein 1 (HP1) family: a potential role in the regulation of higher-order chromatin structure". The Journal of Pathology. 196 (2): 135–44. doi:10.1002/path.1016. PMID 11793364. S2CID 36130549.
- Nielsen PR, Nietlispach D, Mott HR, Callaghan J, Bannister A, Kouzarides T, Murzin AG, Murzina NV, Laue ED (Mar 2002). "Structure of the HP1 chromodomain bound to histone H3 methylated at lysine 9". Nature. 416 (6876): 103–7. doi:10.1038/nature722. PMID 11882902. S2CID 4423019.
- Vassallo MF, Tanese N (Apr 2002). "Isoform-specific interaction of HP1 with human TAFII130". Proceedings of the National Academy of Sciences of the United States of America. 99 (9): 5919–24. doi:10.1073/pnas.092025499. PMC 122877. PMID 11959914.
- Hwang KK, Worman HJ (maj 2002). "Gene regulation by human orthologs of Drosophila heterochromatin protein 1". Biochemical and Biophysical Research Communications. 293 (4): 1217–22. doi:10.1016/S0006-291X(02)00377-7. PMID 12054505.
- Bhattacharya N, Wang Z, Davitt C, McKenzie IF, Xing PX, Magnuson NS (Jul 2002). "Pim-1 associates with protein complexes necessary for mitosis". Chromosoma. 111 (2): 80–95. doi:10.1007/s00412-002-0192-6. PMID 12111331. S2CID 26016943.
- Lin CY, Li CC, Huang PH, Lee FJ (Dec 2002). "A developmentally regulated ARF-like 5 protein (ARL5), localized to nuclei and nucleoli, interacts with heterochromatin protein 1". Journal of Cell Science. 115 (Pt 23): 4433–45. doi:10.1242/jcs.00123. PMID 12414990. S2CID 16851984.
- Festenstein R, Pagakis SN, Hiragami K, Lyon D, Verreault A, Sekkali B, Kioussis D (Jan 2003). "Modulation of heterochromatin protein 1 dynamics in primary Mammalian cells". Science. 299 (5607): 719–21. doi:10.1126/science.1078694. PMID 12560554. S2CID 26661977.
Vanjski linkovi
uredi- CBX1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
- Lokacija ljudskog genoma CBX1 i stranica sa detaljima o genu CBX1 u UCSC Genome Browseru.