KCNC3

KCNC3
Identifikatori
Aliasi	KCNC3
Vanjski ID-jevi	OMIM: 176264 MGI: 96669 HomoloGene: 3650 GeneCards: KCNC3
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	50,333,515 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	44,604,754 bp
Ontologija gena
Molekularna funkcija	• voltage-gated potassium channel activity; • ion channel activity; • potassium channel activity; • voltage-gated ion channel activity; • delayed rectifier potassium channel activity;
Ćelijska komponenta	• integral component of membrane; • voltage-gated potassium channel complex; • ćelijska membrana; • membrana; • citoplazma; • citoskelet; • cell cortex; • međućelijske veze; • Akson; • dendrit; • dendritic spine membrane; • presynaptic membrane; • projekcija ćelije; • perikaryon; • sinapsa; • dendrite membrane; • neuronal cell body membrane; • soma;
Biološki proces	• potassium ion transport; • regulation of ion transmembrane transport; • protein homooligomerization; • ion transport; • protein tetramerization; • transmembrane transport; • potassium ion transmembrane transport;
	Izvori:Amigo / QuickGO
Ortolozi
	3748
	16504
	ENSG00000131398
	ENSMUSG00000062785
	Q14003
	Q63959
	NM_004977; NM_001372305
	NM_001290682; NM_008422
	NP_004968; NP_001359234
NP_001277611; NP_001372554; NP_001372555; NP_001372556; NP_001372557;
	NP_001372558; NP_001372559; NP_001372560; NP_001372561; NP_001372562; NP_001372563; NP_001372564; NP_001372565; NP_001372566; NP_032448
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kalijski naponski kanal, član 3 potporodice srodna šou, također poznat kao KCNC3 ili K_v3.3 jest protein koji je kod ljudi kodiran genom KCNC3 sa hromosoma 19.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 757 aminokiselina, a molekulska težina 80.578 Da.^[5]^[6]

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
MLSSVCVSSF	RGRQGASKQQ	PAPPPQPPES	PPPPPLPPQQ	QQPAQPGPAA
SPAGPPAPRG	PGDRRAEPCP	GLPAAAMGRH	GGGGGDSGKI	VINVGGVRHE
TYRSTLRTLP	GTRLAGLTEP	EAAARFDYDP	GADEFFFDRH	PGVFAYVLNY
YRTGKLHCPA	DVCGPLFEEE	LGFWGIDETD	VEACCWMTYR	QHRDAEEALD
SFEAPDPAGA	ANAANAAGAH	DGGLDDEAGA	GGGGLDGAGG	ELKRLCFQDA
GGGAGGPPGG	AGGAGGTWWR	RWQPRVWALF	EDPYSSRAAR	YVAFASLFFI
LISITTFCLE	THEGFIHISN	KTVTQASPIP	GAPPENITNV	EVETEPFLTY
VEGVCVVWFT	FEFLMRITFC	PDKVEFLKSS	LNIIDCVAIL	PFYLEVGLSG
LSSKAAKDVL	GFLRVVRFVR	ILRIFKLTRH	FVGLRVLGHT	LRASTNEFLL
LIIFLALGVL	IFATMIYYAE	RIGADPDDIL	GSNHTYFKNI	PIGFWWAVVT
MTTLGYGDMY	PKTWSGMLVG	ALCALAGVLT	IAMPVPVIVN	NFGMYYSLAM
AKQKLPKKKN	KHIPRPPQPG	SPNYCKPDPP	PPPPPHPHHG	SGGISPPPPI
TPPSMGVTVA	GAYPAGPHTH	PGLLRGGAGG	LGIMGLPPLP	APGEPCPLAQ
EEVIEINRAD	PRPNGDPAAA	ALAHEDCPAI	DQPAMSPEDK	SPITPGSRGR
YSRDRACFLL	TDYAPSPDGS	IRKATGAPPL	PPQDWRKPGP	PSFLPDLNAN
AAAWISP

Funkcija

Porodica šejker gena u Drosophila kodira komponente naponski-vođeni kalijski kanal i sastoji se od četiri potporodice. Na osnovu sličnosti sekvenci, ovaj gen je sličan jednoj od ovih potporodica, odnosno podporodici šou. Protein kodiran ovim genom pripada klasi kanalnih proteina sa odloženim ispravljačem i integralni je membranski protein koji posreduje u naponsko zavisnoj permeabilnosti kalijevih jona ekscitabilnih membrana.^[6]^[7]^[8]

Klinički značaj

KCNC3 je povezan sa spinocerebelumskom ataksijom tipa 13.^[9]

Također pogledajte

Naponski-vođeni kalijski kanal

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131398 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000062785 - 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.
^ ^a ^b Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, Salkoff L, Gutman GA, Chandy KG (februar 1992). "Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1". Genomics. 12 (2): 190–6. doi:10.1016/0888-7543(92)90365-Y. PMID 1740329.
^ ^a ^b "Entrez Gene: potassium voltage-gated channel".
^ Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D, Vega-Saenz de Miera E, Rudy B (decembar 1993). "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711–5. doi:10.1007/BF00357794. PMID 8111118. S2CID 24121259.
^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, et al. (decembar 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
^ Waters MF, Pulst SM (2008). "Sca13". Cerebellum. 7 (2): 165–9. doi:10.1007/s12311-008-0039-7. PMID 18592334. S2CID 62781954.

Vansjki linkovi

GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 13

Dopunska literatura

Wang D, Youngson C, Wong V, Yeger H, Dinauer MC, Vega-Saenz Miera E, Rudy B, Cutz E (1996). "NADPH-oxidase and a hydrogen peroxide-sensitive K+ channel may function as an oxygen sensor complex in airway chemoreceptors and small cell lung carcinoma cell lines". Proc. Natl. Acad. Sci. U.S.A. 93 (23): 13182–7. Bibcode:1996PNAS...9313182W. doi:10.1073/pnas.93.23.13182. PMC 24067. PMID 8917565.
Rae JL, Shepard AR (2000). "Kv3.3 potassium channels in lens epithelium and corneal endothelium". Exp. Eye Res. 70 (3): 339–48. doi:10.1006/exer.1999.0796. PMID 10712820.
Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM (2006). "Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes". Nat. Genet. 38 (4): 447–51. doi:10.1038/ng1758. PMID 16501573. S2CID 16790821.
Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F (2004). "Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families". Arch. Neurol. 61 (5): 727–33. doi:10.1001/archneur.61.5.727. PMID 15148151.
Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Dürr A, Brice A (2000). "Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation". Am. J. Hum. Genet. 67 (1): 229–35. doi:10.1086/302958. PMC 1287081. PMID 10820125.

Vanjski linkovi

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000131398 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000062785 - 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.

[pmid1740329-5] Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, Salkoff L, Gutman GA, Chandy KG (februar 1992). "Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1". Genomics. 12 (2): 190–6. doi:10.1016/0888-7543(92)90365-Y. PMID 1740329.

[entrez-6] "Entrez Gene: potassium voltage-gated channel".

[pmid8111118-7] Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D, Vega-Saenz de Miera E, Rudy B (decembar 1993). "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711–5. doi:10.1007/BF00357794. PMID 8111118. S2CID 24121259.

[pmid16382104-8] Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, et al. (decembar 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.

[pmid18592334-9] Waters MF, Pulst SM (2008). "Sca13". Cerebellum. 7 (2): 165–9. doi:10.1007/s12311-008-0039-7. PMID 18592334. S2CID 62781954.

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