CLRN1: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Clarin-1''' is a [[protein]] that in humans is encoded by the ''CLRN1'' [[gene]].<ref name="pmid7711740">{{cite journal |vauthors=Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A | title = Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q | journal = Hum Mol Genet | volume = 4 | issue = 1 | pages = 93–8 |date=May 1995 | pmid = 7711740 | pmc =  | doi = 10.1093/hmg/4.1.93 }}</ref><ref name="pmid8975700">{{cite journal |vauthors=Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kaariainen H, Brown S, Chapelle A, Sankila EM | title = Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region | journal = Genomics | volume = 38 | issue = 3 | pages = 255–63 |date=Mar 1997 | pmid = 8975700 | pmc = | doi =10.1006/geno.1996.0626  }}</ref><ref name="entrez" />
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Clarin 1
| HGNCid = 12605
| Symbol = CLRN1
| AltSymbols =; USH3; USH3A
| OMIM = 606397
| ECnumber = 
| Homologene = 17738
| MGIid = 2388124
| Function =  
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7401
    | Hs_Ensembl = ENSG00000163646
    | Hs_RefseqProtein = NP_443721
    | Hs_RefseqmRNA = NM_052995
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 152126640
    | Hs_GenLoc_end = 152173476
    | Hs_Uniprot = P58418
    | Mm_EntrezGene = 229320
    | Mm_Ensembl = ENSMUSG00000043850
    | Mm_RefseqmRNA = NM_153384
    | Mm_RefseqProtein = NP_700433
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 58933144
    | Mm_GenLoc_end = 58973141
    | Mm_Uniprot = 
  }}
}}
'''Clarin 1''', also known as '''CLRN1''', is a human [[gene]].<ref name="entrez" />


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a protein that contains a cytosolic [[N-terminus]], multiple helical transmembrane domains, and an [[endoplasmic reticulum]] membrane retention signal, TKGH, in the [[C-terminus]]. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with [[Usher syndrome]] type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: CLRN1 clarin 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7401| accessdate = }}</ref>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: CLRN1 clarin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7401| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | author=Adato A |title=Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 261–5 |year= 1999 |pmid= 10364543 |doi=10.1086/302438 | pmc=1378101  |name-list-format=vanc| author2=Kalinski H | author3=Weil D | display-authors=3  | last4=Chaib  | first4=Hassan  | last5=Korostishevsky  | first5=Michael  | last6=Bonne-Tamir  | first6=Batsheva }}
| citations =
*{{cite journal  | author=Joensuu T |title=A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q |journal=Genomics |volume=63 |issue= 3 |pages= 409–16 |year= 2000 |pmid= 10704288 |doi= 10.1006/geno.1999.6096 |name-list-format=vanc| author2=Hämäläinen R  | author3=Lehesjoki AE  | display-authors=3  | last4=De La Chapelle  | first4=Albert  | last5=Sankila  | first5=Eeva-Marja }}
*{{cite journal  | author=Sankila EM, Pakarinen L, Kääriäinen H, ''et al.'' |title=Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. |journal=Hum. Mol. Genet. |volume=4 |issue= 1 |pages= 93-8 |year= 1995 |pmid= 7711740 |doi= }}
*{{cite journal  | author=Joensuu T |title=Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 |journal=Am. J. Hum. Genet. |volume=69 |issue= 4 |pages= 673–84 |year= 2001 |pmid= 11524702 |doi=10.1086/323610  | pmc=1226054  |name-list-format=vanc| author2=Hämäläinen R  | author3=Yuan B  | display-authors=3  | last4=Johnson  | first4=Cheryl  | last5=Tegelberg  | first5=Saara  | last6=Gasparini  | first6=Paolo  | last7=Zelante  | first7=Leopoldo  | last8=Pirvola  | first8=Ulla  | last9=Pakarinen  | first9=Leenamaija }}
*{{cite journal | author=Joensuu T, Blanco G, Pakarinen L, ''et al.'' |title=Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. |journal=Genomics |volume=38 |issue= 3 |pages= 255-63 |year= 1997 |pmid= 8975700 |doi= }}
*{{cite journal  | author=Adato A |title=USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses |journal=Eur. J. Hum. Genet. |volume=10 |issue= 6 |pages= 339–50 |year= 2003 |pmid= 12080385 |doi= 10.1038/sj.ejhg.5200831 |name-list-format=vanc| author2=Vreugde S  | author3=Joensuu T  | display-authors=3  | last4=Avidan  | first4=Nili  | last5=Hamalainen  | first5=Riikka  | last6=Belenkiy  | first6=Olga  | last7=Olender  | first7=Tsviya  | last8=Bonne-Tamir  | first8=Batsheva  | last9=Ben-Asher  | first9=Edna }}
*{{cite journal | author=Adato A, Kalinski H, Weil D, ''et al.'' |title=Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. |journal=Am. J. Hum. Genet. |volume=65 |issue= 1 |pages= 261-5 |year= 1999 |pmid= 10364543 |doi=  }}
*{{cite journal  | author=Fields RR |title=Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 607–17 |year= 2002 |pmid= 12145752 |doi=10.1086/342098  | pmc=449697  |name-list-format=vanc| author2=Zhou G  | author3=Huang D  | display-authors=3  | last4=Davis  | first4=Jack R.  | last5=Möller  | first5=Claes  | last6=Jacobson  | first6=Samuel G.  | last7=Kimberling  | first7=William J.  | last8=Sumegi  | first8=Janos }}
*{{cite journal  | author=Joensuu T, Hämäläinen R, Lehesjoki AE, ''et al.'' |title=A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. |journal=Genomics |volume=63 |issue= 3 |pages= 409-16 |year= 2000 |pmid= 10704288 |doi= 10.1006/geno.1999.6096 }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Joensuu T, Hämäläinen R, Yuan B, ''et al.'' |title=Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. |journal=Am. J. Hum. Genet. |volume=69 |issue= 4 |pages= 673-84 |year= 2001 |pmid= 11524702 |doi=  }}
*{{cite journal  | author=Ness SL |title=Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III |journal=J. Med. Genet. |volume=40 |issue= 10 |pages= 767–72 |year= 2003 |pmid= 14569126 |doi=10.1136/jmg.40.10.767  | pmc=1735287  |name-list-format=vanc| author2=Ben-Yosef T  | author3=Bar-Lev A  | display-authors=3  | last4=Madeo  | first4=AC  | last5=Brewer  | first5=CC  | last6=Avraham  | first6=KB  | last7=Kornreich  | first7=R  | last8=Desnick  | first8=RJ  | last9=Willner  | first9=JP }}
*{{cite journal  | author=Adato A, Vreugde S, Joensuu T, ''et al.'' |title=USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 6 |pages= 339-50 |year= 2003 |pmid= 12080385 |doi= 10.1038/sj.ejhg.5200831 }}
*{{cite journal  | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal  | author=Fields RR, Zhou G, Huang D, ''et al.'' |title=Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 607-17 |year= 2002 |pmid= 12145752 |doi=  }}
*{{cite journal  | author=Aller E |title=Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability |journal=Clin. Genet. |volume=66 |issue= 6 |pages= 525–9 |year= 2005 |pmid= 15521980 |doi= 10.1111/j.1399-0004.2004.00352.x |name-list-format=vanc| author2=Jaijo T  | author3=Oltra S  | display-authors=3  | last4=Alió  | first4=J  | last5=Galán  | first5=F  | last6=Nájera  | first6=C  | last7=Beneyto  | first7=M  | last8=Millán  | first8=JM }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Plantinga RF |title=Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients |journal=Audiol. Neurootol. |volume=10 |issue= 2 |pages= 79–89 |year= 2005 |pmid= 15650299 |doi= 10.1159/000083363 |name-list-format=vanc| author2=Kleemola L  | author3=Huygen PL  | display-authors=3  | last4=Joensuu  | first4=T.  | last5=Sankila  | first5=E.-M.  | last6=Pennings  | first6=R.J.E.  | last7=Cremers  | first7=C.W.R.J. }}
*{{cite journal  | author=Ness SL, Ben-Yosef T, Bar-Lev A, ''et al.'' |title=Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. |journal=J. Med. Genet. |volume=40 |issue= 10 |pages= 767-72 |year= 2003 |pmid= 14569126 |doi=  }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Aller E, Jaijo T, Oltra S, ''et al.'' |title=Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. |journal=Clin. Genet. |volume=66 |issue= 6 |pages= 525-9 |year= 2005 |pmid= 15521980 |doi= 10.1111/j.1399-0004.2004.00352.x }}
*{{cite journal  | author=Plantinga RF, Kleemola L, Huygen PL, ''et al.'' |title=Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. |journal=Audiol. Neurootol. |volume=10 |issue= 2 |pages= 79-89 |year= 2005 |pmid= 15650299 |doi= 10.1159/000083363 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1417/  GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview]
* {{UCSC gene info|CLRN1}}
 
 
{{gene-3-stub}}

Latest revision as of 09:50, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.[1][2][3]

Function

This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[3]

References

  1. ↑ Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A (May 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: CLRN1 clarin 1".

Further reading

External links


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