USH3A
(Preusmjereno sa CLRN1)
Klarin-1 je protein koji je kod ljudi kodiran genom CLRN1 sa hromosoma 3.[5][6][7]
| USH3A | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | CLRN1 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 606397 MGI: 2388124 HomoloGene: 17738 GeneCards: CLRN1 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 3: 150.93 – 150.97 Mb | Chr 3: 58.75 – 58.79 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 232 aminokiseline, a molekulska težina 25.719 Da.[8]
| 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
urediOvaj 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
uredi- ^ 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
uredi- 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
uredi- GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
- Lokacija ljudskog genoma CLRN1 i stranica sa detaljima o genu CLRN1 u UCSC Genome Browseru.