CNTN4
Kontaktin-4 jest protein koji je kod ljudi kodiran genom CNTN4 sa hromosoma 3.[5][6][7]
Aminokiselinska sekvenca uredi
Dužina polipeptidnog lanca je 1.026 aminokiselina, а molekulska težina 113.454 Da.[8].
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MRLPWELLVL | QSFILCLADD | STLHGPIFIQ | EPSPVMFPLD | SEEKKVKLNC | ||||
| EVKGNPKPHI | RWKLNGTDVD | TGMDFRYSVV | EGSLLINNPN | KTQDAGTYQC | ||||
| TATNSFGTIV | SREAKLQFAY | LDNFKTRTRS | TVSVRRGQGM | VLLCGPPPHS | ||||
| GELSYAWIFN | EYPSYQDNRR | FVSQETGNLY | IAKVEKSDVG | NYTCVVTNTV | ||||
| TNHKVLGPPT | PLILRNDGVM | GEYEPKIEVQ | FPETVPTAKG | ATVKLECFAL | ||||
| GNPVPTIIWR | RADGKPIARK | ARRHKSNGIL | EIPNFQQEDA | GLYECVAENS | ||||
| RGKNVARGQL | TFYAQPNWIQ | KINDIHVAME | ENVFWECKAN | GRPKPTYKWL | ||||
| KNGEPLLTRD | RIQIEQGTLN | ITIVNLSDAG | MYQCLAENKH | GVIFSNAELS | ||||
| VIAVGPDFSR | TLLKRVTLVK | VGGEVVIECK | PKASPKPVYT | WKKGRDILKE | ||||
| NERITISEDG | NLRIINVTKS | DAGSYTCIAT | NHFGTASSTG | NLVVKDPTRV | ||||
| MVPPSSMDVT | VGESIVLPCQ | VTHDHSLDIV | FTWSFNGHLI | DFDRDGDHFE | ||||
| RVGGQDSAGD | LMIRNIQLKH | AGKYVCMVQT | SVDRLSAAAD | LIVRGPPGPP | ||||
| EAVTIDEITD | TTAQLSWRPG | PDNHSPITMY | VIQARTPFSV | GWQAVSTVPE | ||||
| LIDGKTFTAT | VVGLNPWVEY | EFRTVAANVI | GIGEPSRPSE | KRRTEEALPE | ||||
| VTPANVSGGG | GSKSELVITW | ETVPEELQNG | RGFGYVVAFR | PYGKMIWMLT | ||||
| VLASADASRY | VFRNESVHPF | SPFEVKVGVF | NNKGEGPFSP | TTVVYSAEEE | ||||
| PTKPPASIFA | RSLSATDIEV | FWASPLEKNR | GRIQGYEVKY | WRHEDKEENA | ||||
| RKIRTVGNQT | STKITNLKGS | VLYHLAVKAY | NSAGTGPSSA | TVNVTTRKPP | ||||
| PSQPPGNIIW | NSSDSKIILN | WDQVKALDNE | SEVKGYKVLY | RWNRQSSTSV | ||||
| IETNKTSVEL | SLPFDEDYII | EIKPFSDGGD | GSSSEQIRIP | KISNAYARGS | ||||
| GASTSNACTL | SAISTIMISL | TARSSL |
Funkcija uredi
Protein kodiran ovim genom je član natporodice imunoglobulina. To je protein neuronske membrane usidren glikozilfosfatidilinozitolom (GPI) koji funkcionira kao molekula ćelijske adhezije. Može imati ulogu u formiranju aksonskih veza u nervnom sistemu u razvoju. Opisano je nekoliko alternativno prerađenih varijanti transkripta ovog gena, ali priroda nekih od ovih varijanti u punoj dužini nije utvrđena.[7]
Genomika uredi
Gen se nalazi na kratkom kraku hromosoma 3, pozicija 3p26.3. To je jedna kopija gena unutar Watson (plus) lanca, dužine 957.399 baza i kodira protein od 1.026 aminokiselina (molekulska težina 113.454 kDa)
Klinički značaj uredi
Abnormalna ekspresija ovog gena je implicirana u nekim slučajevima autizma.[9] Također je povezan sa degeneracijom malog mozga kod spinocerebelarne ataksije tipa 16.
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000144619 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064293 - 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.
- ^ Yoshihara Y, Kawasaki M, Tamada A, Nagata S, Kagamiyama H, Mori K (Mar 1996). "Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily". J Neurobiol. 28 (1): 51–69. doi:10.1002/neu.480280106. PMID 8586965.
- ^ Zeng L, Zhang C, Xu J, Ye X, Wu Q, Dai J, Ji C, Gu S, Xie Y, Mao Y (Aug 2002). "A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain". J Hum Genet. 47 (9): 497–9. doi:10.1007/s100380200073. PMID 12202991.
- ^ a b "Entrez Gene: CNTN4 contactin 4".
- ^ "UniProt, Q8IWV2" (jezik: engleski). Pristupljeno 2. 11. 2021.
- ^ "Arhivirana kopija". Arhivirano s originala, 19. 3. 2008. Pristupljeno 2. 11. 2021.CS1 održavanje: arhivirana kopija u naslovu (link)
Dopunska literatura uredi
- Walsh FS, Doherty P (1992). "Glycosylphosphatidylinositol anchored recognition molecules that function in axonal fasciculation, growth and guidance in the nervous system". Cell Biol. Int. Rep. 15 (11): 1151–66. doi:10.1016/0309-1651(91)90061-M. PMID 1838307.
- Miura S, Shibata H, Furuya H, et al. (2006). "The contactin 4 gene locus at 3p26 is a candidate gene of SCA16". Neurology. 67 (7): 1236–41. doi:10.1212/01.wnl.0000238510.84932.82. PMID 17030759. S2CID 34201347.
- Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
- 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.
- Fernandez T, Morgan T, Davis N, et al. (2004). "Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome". Am. J. Hum. Genet. 74 (6): 1286–93. doi:10.1086/421474. PMC 1182094. PMID 15106122.
- 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.
- Hansford LM, Smith SA, Haber M, et al. (2004). "Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2)". Cytogenet. Genome Res. 101 (1): 17–23. doi:10.1159/000073412. PMID 14571131. S2CID 41391308.
- 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.
- Kamei Y, Takeda Y, Teramoto K, et al. (2001). "Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members". Genomics. 69 (1): 113–9. doi:10.1006/geno.2000.6310. PMID 11013081.
- Mimmack ML, Saito H, Evans G, et al. (1997). "A novel splice variant of the cell adhesion molecule BIG-2 is expressed in the olfactory and vomeronasal neuroepithelia". Brain Res. Mol. Brain Res. 47 (1–2): 345–50. doi:10.1016/S0169-328X(97)00104-6. PMID 9221934.
Vanjski linkovi uredi
- Lokacija ljudskog genoma CNTN4 i stranica sa detaljima o genu CNTN4 u UCSC Genome Browseru.