CCDC57
| CCDC57 | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||||||||||||||||
| Aliasi | CCDC57 | ||||||||||||||||||||||||
| Vanjski ID-jevi | MGI: 1918526 HomoloGene: 52351 GeneCards: CCDC57 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) |
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| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 17: 82.1 – 82.21 Mb | Chr 11: 120.72 – 120.82 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Domen upredene zavojnice sa proteinom 57 je protein koji je kod ljudi kodiran genom CCDC57.[5]
Dužina polipeptidnog lanca je 916 aminokiselina, sa molekulskom težinom od 103.167.[6]
Aminokiselinska sekvenca
- 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 | ||||
|---|---|---|---|---|---|---|---|---|
| MLPLGSEPAL | NELLLRKEEE | WRALQAHRTQ | LQEAALQDTR | SQLEEAQGKL | ||||
| RCLQEDFVYN | LQVLEERDLE | LERYDAAFAQ | AREWEEARRA | EVSELKIEAA | ||||
| KLRQALAREA | RKVEELQQQQ | QLAFQEHRLE | LERVHSDKNG | EIDHHREQYE | ||||
| NLKWTLERKL | EELDGELALQ | RQELLLEFES | KMRKREHEFR | LQADNMSNTA | ||||
| LSRELKVKLL | HKELEALKEA | GAKAAESLQR | AEATNAELER | KLQSRAGELQ | ||||
| DLEAMSRARV | KDLEDKLHSV | QLTRKKEEET | FKRKHEELDR | LAREKDAVLV | ||||
| AVKGAHVEQL | QELQTRVLEL | QAHCETLEAQ | LRRAEWRQAD | TAKEKDAAID | ||||
| QLREDASTVK | SAWDAQIAQL | SKEMVSRDLQ | IQTLQEEEVK | LKAQVARSQQ | ||||
| DIERYKQQLS | LAVERERSLE | RDQVQLGLDW | QRRCDDIERD | QIQKSEALIQ | ||||
| GLSMAKSQVA | AKLQETEQAL | QEQEVVLKAV | TLERDQAVQA | LRMHGLPRPG | ||||
| AQMLLRQHEE | EISKDFPSSE | IQRLREQNTS | LRNAIAQMRK | EMEALSHQIP | ||||
| PPIQTAAEST | DANQPDPEAG | GDAATPDYVL | ALEAEIRTLK | HKFKTLEKHL | ||||
| EDVLDPLKMS | SPHAESQPSV | RTSTETTGGS | AQAGQAGGSV | QAGQAGGSVQ | ||||
| AGPVSSGLAL | RKLGDRVQLL | NLLVTRLRQK | VLREPLEPAA | LQRELPREVD | ||||
| QVHLEVLELR | KQVAELGKHL | RIAQHGGAEP | SGRKQPPASD | AVALGREQDA | ||||
| KSAEDEAPSR | HLGKHQPRSA | QVGSRLDALQ | GPKTQHSIHT | VTCKSPRQKE | ||||
| DRSPKPPQAP | QHPEEHGRQS | HSSSSFASGT | LQDMWRLLDL | GSSPSGVTSQ | ||||
| GDSTPELPAP | PAADRRPVKM | QAGIATPGMK | TAAQAKAKTT | GASRSHPAKA | ||||
| KGCQRPPKIR | NYNIMD |
Model organizmi
| Svojstvo | Fenotip |
|---|---|
| Vijabilnost homozigota | Normalni |
| Plodnost | Normalni |
| Opća posmatranja | Nenormali |
| Tjelesna težina | Normalni |
| Test otvorenog poilja: Anksioznost | Normalni |
| Neurološka procjena | Normalni |
| Snaga stiska | Normalni |
| Test vruće ploče | Normalni |
| Dismorfologija | Normalni |
| Indirektna kalorimetrija | Normalni |
| Test tolerancije glukoze | Normalni |
| Slušni odgovor moždanog debla | Normalni |
| DEXA | Normalni |
| Radiografija | Normalni |
| Tjelesna temperatura | Normalni |
| Morfologija oka | Normalni |
| Klinička hemija (nalaz) | Normalni |
| Plazmatski imunoglobulini | Normalni |
| Hematologija | Normalni |
| Limfociti periferne krvi | Normalni |
| Mikronukleus test | Normalni |
| Težina srca | Normalni |
| Histopatologija kože | Nenormalni |
| Histopatologija oka | Normalni |
| Salmonella infekcija | Normalni[7] |
| Citrobacter infekcija | Normalni[8] |
| Svi testovi i analize su iz[9][10] |
U proučavanju funkcije CCDC57 korišteni su modelni organizmi. Uslovna linija nokaut-miša, nazvana Ccdc57tm1a(EUCOMM)Wtsi[11][12] generiran je kao dio programa Međunarodnog konzorcija za miševe – visokopropusnog projekta mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.[13][14][15]
Muške i ženske životinje prolazile su standardizirani fenotipski skrining, kako bi se utvrdili učinci delecije.[9][16] Izvršeno je dvadeset šest testova na mutantnim miševima i uočene su dvije značajne abnormalnosti.[9] Životinje su pokazale hidrocefaliju i imale su abnormalnu morfologiju hipodermnog masnog sloja.[9]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000176155 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048445 - 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.
- ^ Šablon:Citweb
- ^ "UniProt, Q2TAC2". Pristupljeno 12. 9. 2017.
- ^ "Salmonella infection data for Ccdc57". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Ccdc57". 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, 20. 3. 2012. Pristupljeno 7. 2. 2012.
- ^ "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.
Vanjski linkovi
- Lokacija ljudskog genoma CCDC57 i stranica sa detaljima o genu CCDC57 u UCSC Genome Browseru.
Dopunska literatura
- Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
- Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- Ozyildirim AM, Wistow GJ, Gao J, et al. (2005). "The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts". Invest. Ophthalmol. Vis. Sci. 46 (5): 1572–80. CiteSeerX 10.1.1.123.3574. doi:10.1167/iovs.04-1380. PMID 15851553.
- 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.
- Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
- Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.
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