Ninein
Pengidentifikasi
AliasNIN, SCKL7, ninein
ID EksternalOMIM: 608684; MGI: 105108; HomoloGene: 40632; GeneCards: NIN; OMA:NIN - orthologs
Ortologi
SpesiesManusiaTikus
Entrez

51199

18080

Ensembl

ENSG00000100503

ENSMUSG00000021068

UniProt

Q8N4C6

Q61043

RefSeq (mRNA)

NM_016350
NM_020921
NM_182944
NM_182945
NM_182946

NM_001081453
NM_001286079
NM_001286080
NM_008697

RefSeq (protein)

NP_057434
NP_065972
NP_891989
NP_891991

NP_001074922
NP_001273008
NP_001273009
NP_032723
NP_001390761

Location (UCSC)Chr 14: 50.72 – 50.83 Mbn/a
PubMed search[2][3]
Wikidata
Lihat/Sunting ManusiaLihat/Sunting Tikus

Ninein adalah protein yang pada manusia dikodekan oleh gen NIN.[4][5][6] Ninein, bersama-sama dengan ekspersi paralog protein seperti-Ninein adalah salah satu protein yang penting untuk fungsi sentrosomal. Protein ini penting untuk penentuan posisi dan penahan mikrotubulus minus berakhir di sel epitel. Lokalisasi protein ini untuk sentrosom membutuhkan tiga leucine zipper dalam domain melingkar-coil pusat.

Beberapa varian transkrip alternatif disambung yang menyandi isoform yang berbeda telah dilaporkan.[6] Pada dogma sentral biologi molekuler lama, gen ditranskripsi menjadi mRNA, lalu mengalami pematangan menjadi RNA matang. Namun kini diketahui, ekson pun bisa mengalami splicing, dikenal dengan eksitron (ekson yang bernasib sama seperti intron). Dalam hal ini, ninein full length (penuh) terekspresi di inti sel dan terlokalisasi di zona ventrikular sebagai sel punca saraf. Namun produk transkrip alternatifnya, yang ukurannya lebih pendek, dikirim ke sitoplasma, dan aksinya adalah memicu diferensiasi (tidak menjadi sel saraf). Keadaan ini dikaitkan dengan gangguan pada penderita autisme.[7]

Bacaan lebih lanjut

sunting
  • Nakajima D; Okazaki N; Yamakawa H; et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Mack GJ; Rees J; Sandblom O; et al. (1998). "Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome". Arthritis Rheum. 41 (3): 551–8. doi:10.1002/1529-0131(199803)41:3<551::AID-ART22>3.0.CO;2-X. PMID 9506584.
  • Nagase T; Kikuno R; Nakayama M; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
  • Ou YY, Mack GJ, Zhang M, Rattner JB (2002). "CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation". J. Cell. Sci. 115 (Pt 9): 1825–35. PMID 11956314.
  • Dammermann A, Merdes A (2002). "Assembly of centrosomal proteins and microtubule organization depends on PCM-1". J. Cell Biol. 159 (2): 255–66. doi:10.1083/jcb.200204023. PMC 2173044. PMID 12403812.
  • 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.
  • Chen CH; Howng SL; Cheng TS; et al. (2003). "Molecular characterization of human ninein protein: two distinct subdomains required for centrosomal targeting and regulating signals in cell cycle". Biochem. Biophys. Res. Commun. 308 (4): 975–83. doi:10.1016/S0006-291X(03)01510-9. PMID 12927815.
  • Fritzler MJ, Zhang M, Stinton LM, Rattner JB (2004). "Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia". BMC pediatrics. 3: 11. doi:10.1186/1471-2431-3-11. PMC 222907. PMID 14503922. Pemeliharaan CS1: DOI bebas tanpa ditandai (link)
  • 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.
  • Innocenti M; Zucconi A; Disanza A; et al. (2004). "Abi1 is essential for the formation and activation of a WAVE2 signalling complex". Nat. Cell Biol. 6 (4): 319–27. doi:10.1038/ncb1105. PMID 15048123.
  • Vizmanos JL; Novo FJ; Román JP; et al. (2004). "NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder". Cancer Res. 64 (8): 2673–6. doi:10.1158/0008-5472.CAN-04-0144. PMID 15087377.
  • Howng SL; Hsu HC; Cheng TS; et al. (2004). "A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors". FEBS Lett. 566 (1–3): 162–8. doi:10.1016/j.febslet.2004.04.024. PMID 15147888.
  • Stillwell EE, Zhou J, Joshi HC (2006). "Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation". Cell Cycle. 3 (7): 923–30. doi:10.4161/cc.3.7.947. PMID 15190203.
  • 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.
  • Delgehyr N, Sillibourne J, Bornens M (2005). "Microtubule nucleation and anchoring at the centrosome are independent processes linked by ninein function". J. Cell. Sci. 118 (Pt 8): 1565–75. doi:10.1242/jcs.02302. PMID 15784680.
  • Cheng TS; Chang LK; Howng SL; et al. (2006). "SUMO-1 modification of centrosomal protein hNinein promotes hNinein nuclear localization". Life Sci. 78 (10): 1114–20. doi:10.1016/j.lfs.2005.06.021. PMID 16154161.

Referensi

sunting
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100503 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Hong YR, Chen CH, Chang JH, Wang S, Sy WD, Chou CK, Howng SL (Oct 2000). "Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta". Biochim Biophys Acta. 1492 (2–3): 513–6. doi:10.1016/S0167-4781(00)00127-5. PMID 11004522.
  5. ^ Hong YR, Chen CH, Chuo MH, Liou SY, Howng SL (Feb 2001). "Genomic organization and molecular characterization of the human ninein gene". Biochem. Biophys. Res. Commun. 279 (3): 989–95. doi:10.1006/bbrc.2000.4050. PMID 11162463.
  6. ^ a b "Entrez Gene: NIN ninein (GSK3B interacting protein)".
  7. ^ Zhang X, Chen MH, Wu X, Kodani A, Fan J, Doan R, dkk (Aug 2016). "Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex". Cell. 166 (5): 1147–62. doi:10.1016/j.cell.2016.07.025. PMID 27565344.