USH3A

USH3A
Identifikatori
Aliasi	CLRN1
Vanjski ID-jevi	OMIM: 606397 MGI: 2388124 HomoloGene: 17738 GeneCards: CLRN1
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	150,972,727 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	58,792,761 bp
Ortolozi
	7401
	229320
	ENSG00000163646
	ENSMUSG00000043850
	P58418
	Q8K445
	NM_001195794; NM_001256819; NM_052995; NM_174878; NM_174880
	NM_153384; NM_153385; NM_153386
	NP_001182723; NP_001243748; NP_443721; NP_777367
	NP_700433; NP_700434; NP_700435
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Klarin-1 je protein koji je kod ljudi kodiran genom CLRN1 sa hromosoma 3.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 232 aminokiseline, a molekulska težina 25.719 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
MPSQQKKIIF	CMAGVFSFAC	ALGVVTALGT	PLWIKATVLC	KTGALLVNAS
GQELDKFMGE	MQYGLFHGEG	VRQCGLGARP	FRFSFFPDLL	KAIPVSIHVN
VILFSAILIV	LTMVGTAFFM	YNAFGKPFET	LHGPLGLYLL	SFISGSCGCL
VMILFASEVK	IHHLSEKIAN	YKEGTYVYKT	QSEKYTTSFW	VIFFCFFVHF
LNGLLIRLAG	FQFPFAKSKD	AETTNVAADL	MY

Funkcija

Ovaj gen kodira protein koji sadrži citosolni N-terminal, više spiralnih transmembranskih domena i membranski retencijski signal endoplazmatskog retikuluma, TKGH, u C-terminalu. Kodirani protein može biti važan u razvoju i homeostazi unutrašnjeg uha i retine. Mutacije unutar ovog gena su povezane sa Usherovim sindromom tipom IIIa. Za ovaj gen identificirane su višestruke varijante transkripta koje kodiraju različite izoforme.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163646 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000043850 - 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.
^ Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A (maj 1995). "Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q". Hum Mol Genet. 4 (1): 93–8. doi:10.1093/hmg/4.1.93. PMID 7711740.
^ Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kaariainen H, Brown S, Chapelle A, Sankila EM (Mar 1997). "Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region". Genomics. 38 (3): 255–63. doi:10.1006/geno.1996.0626. PMID 8975700.
^ ^a ^b "Entrez Gene: CLRN1 clarin 1".
^ "UniProt, P58418" (jezik: engleski). Pristupljeno 1. 11. 2021.

Dopunska literatura

Adato A, Kalinski H, Weil D, et al. (1999). "Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance". Am. J. Hum. Genet. 65 (1): 261–5. doi:10.1086/302438. PMC 1378101. PMID 10364543.
Joensuu T, Hämäläinen R, Lehesjoki AE, et al. (2000). "A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q". Genomics. 63 (3): 409–16. doi:10.1006/geno.1999.6096. PMID 10704288.
Joensuu T, Hämäläinen R, Yuan B, et al. (2001). "Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3". Am. J. Hum. Genet. 69 (4): 673–84. doi:10.1086/323610. PMC 1226054. PMID 11524702.
Adato A, Vreugde S, Joensuu T, et al. (2003). "USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses". Eur. J. Hum. Genet. 10 (6): 339–50. doi:10.1038/sj.ejhg.5200831. PMID 12080385.
Fields RR, Zhou G, Huang D, et al. (2002). "Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations". Am. J. Hum. Genet. 71 (3): 607–17. doi:10.1086/342098. PMC 449697. PMID 12145752.
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.
Ness SL, Ben-Yosef T, Bar-Lev A, et al. (2003). "Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III". J. Med. Genet. 40 (10): 767–72. doi:10.1136/jmg.40.10.767. PMC 1735287. PMID 14569126.
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.
Aller E, Jaijo T, Oltra S, et al. (2005). "Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability". Clin. Genet. 66 (6): 525–9. doi:10.1111/j.1399-0004.2004.00352.x. PMID 15521980. S2CID 44517424.
Plantinga RF, Kleemola L, Huygen PL, et al. (2005). "Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients". Audiol. Neurootol. 10 (2): 79–89. doi:10.1159/000083363. PMID 15650299. S2CID 32183013.

Vanjski linkovi

GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
Lokacija ljudskog genoma CLRN1 i stranica sa detaljima o genu CLRN1 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163646 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000043850 - 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.

[pmid7711740-5] Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A (maj 1995). "Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q". Hum Mol Genet. 4 (1): 93–8. doi:10.1093/hmg/4.1.93. PMID 7711740.

[pmid8975700-6] Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kaariainen H, Brown S, Chapelle A, Sankila EM (Mar 1997). "Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region". Genomics. 38 (3): 255–63. doi:10.1006/geno.1996.0626. PMID 8975700.

[entrez-7] "Entrez Gene: CLRN1 clarin 1".

[UniProt-8] "UniProt, P58418" (jezik: engleski). Pristupljeno 1. 11. 2021.

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