CNTN4

CNTN4
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3JXA, 3KLD
Identifikatori
Aliasi	CNTN4
Vanjski ID-jevi	OMIM: 607280 MGI: 1095737 HomoloGene: 14257 GeneCards: CNTN4
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	3,057,959 bp
Lokacija gena (miš)
Hrom.	Hromosom 6 (miš)
Kraj	106,699,310 bp
Ontologija gena
Molekularna funkcija	• cell-cell adhesion mediator activity;
Ćelijska komponenta	• anchored component of membrane; • Akson; • membrana; • extracellular region; • ćelijska membrana;
Biološki proces	• neuron cell-cell adhesion; • Ćelijska adhezija; • axonal fasciculation; • negative regulation of neuron differentiation; • axonogenesis; • nervous system development; • regulation of synaptic plasticity; • axon guidance; • brain development; • neuron projection development; • homophilic cell adhesion via plasma membrane adhesion molecules; • dendrite self-avoidance;
	Izvori:Amigo / QuickGO
Ortolozi
	152330
	269784
	ENSG00000144619
	ENSMUSG00000064293
	Q8IWV2
	Q69Z26
NM_001206955; NM_001206956; NM_175607; NM_175612; NM_175613;
	NM_001350095
	NM_001109749; NM_001109751; NM_173004; NM_001364565; NM_001364566
	NP_001193884; NP_001193885; NP_783200; NP_783302; NP_001337024
	NP_001103219; NP_001103221; NP_766592; NP_001351494; NP_001351495
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kontaktin-4 jest protein koji je kod ljudi kodiran genom CNTN4 sa hromosoma 3.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.026 aminokiselina, а molekulska težina 113.454 Da.^[8].

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
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

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

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

Abnormalna ekspresija ovog gena je implicirana u nekim slučajevima autizma.^[9] Također je povezan sa degeneracijom malog mozga kod spinocerebelarne ataksije tipa 16.

Reference

^ ^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

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

Lokacija ljudskog genoma CNTN4 i stranica sa detaljima o genu CNTN4 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000144619 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000064293 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8586965-5] 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.

[pmid12202991-6] 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.

[entrez-7] "Entrez Gene: CNTN4 contactin 4".

[UniProt-8] "UniProt, Q8IWV2" (jezik: engleski). Pristupljeno 2. 11. 2021.

[9] "Arhivirana kopija". Arhivirano s originala, 19. 3. 2008. Pristupljeno 2. 11. 2021.CS1 održavanje: arhivirana kopija u naslovu (link)

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