CLRN1_MOUSE
ID CLRN1_MOUSE Reviewed; 232 AA.
AC Q8K445; Q8K446;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Clarin-1;
DE AltName: Full=Usher syndrome type-3 protein homolog;
GN Name=Clrn1; Synonyms=Ush3a;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND FUNCTION.
RC STRAIN=C57BL/6J; TISSUE=Inner ear, and Thymus;
RX PubMed=12080385; DOI=10.1038/sj.ejhg.5200831;
RA Adato A., Vreugde S., Joensuu T., Avidan N., Hamalainen R., Belenkiy O.,
RA Olender T., Bonne-Tamir B., Ben-Asher E., Espinos C., Millan J.M.,
RA Lehesjoki A.-E., Flannery J.G., Avraham K.B., Pietrokovski S.,
RA Sankila E.-M., Beckmann J.S., Lancet D.;
RT "USH3A transcripts encode clarin-1, a four-transmembrane-domain protein
RT with a possible role in sensory synapses.";
RL Eur. J. Hum. Genet. 10:339-350(2002).
CC -!- FUNCTION: May have a role in the excitatory ribbon synapse junctions
CC between hair cells and cochlear ganglion cells and presumably also in
CC analogous synapses within the retina. {ECO:0000269|PubMed:12080385}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P58418};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8K445-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8K445-2; Sequence=VSP_022870;
CC -!- SIMILARITY: Belongs to the clarin family. {ECO:0000305}.
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DR EMBL; AF495718; AAM88775.1; -; mRNA.
DR EMBL; AF495719; AAM88776.1; -; mRNA.
DR CCDS; CCDS38438.1; -. [Q8K445-1]
DR CCDS; CCDS38439.1; -. [Q8K445-2]
DR RefSeq; NP_700433.1; NM_153384.3. [Q8K445-2]
DR RefSeq; NP_700434.1; NM_153385.3. [Q8K445-1]
DR RefSeq; NP_700435.1; NM_153386.3.
DR AlphaFoldDB; Q8K445; -.
DR STRING; 10090.ENSMUSP00000052254; -.
DR GlyGen; Q8K445; 2 sites.
DR iPTMnet; Q8K445; -.
DR PhosphoSitePlus; Q8K445; -.
DR PRIDE; Q8K445; -.
DR Antibodypedia; 52945; 34 antibodies from 12 providers.
DR DNASU; 229320; -.
DR Ensembl; ENSMUST00000051408; ENSMUSP00000051738; ENSMUSG00000043850. [Q8K445-1]
DR Ensembl; ENSMUST00000055636; ENSMUSP00000052254; ENSMUSG00000043850. [Q8K445-2]
DR GeneID; 229320; -.
DR KEGG; mmu:229320; -.
DR UCSC; uc008pid.2; mouse. [Q8K445-2]
DR UCSC; uc008pie.2; mouse. [Q8K445-1]
DR CTD; 7401; -.
DR MGI; MGI:2388124; Clrn1.
DR VEuPathDB; HostDB:ENSMUSG00000043850; -.
DR eggNOG; ENOG502QQVB; Eukaryota.
DR GeneTree; ENSGT00850000132319; -.
DR InParanoid; Q8K445; -.
DR OMA; AIGTQLW; -.
DR PhylomeDB; Q8K445; -.
DR TreeFam; TF331875; -.
DR BioGRID-ORCS; 229320; 0 hits in 72 CRISPR screens.
DR PRO; PR:Q8K445; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q8K445; protein.
DR Bgee; ENSMUSG00000043850; Expressed in otolith organ and 31 other tissues.
DR ExpressionAtlas; Q8K445; baseline and differential.
DR Genevisible; Q8K445; MM.
DR GO; GO:0045178; C:basal part of cell; IDA:MGI.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0030027; C:lamellipodium; ISO:MGI.
DR GO; GO:0015630; C:microtubule cytoskeleton; IDA:MGI.
DR GO; GO:0005902; C:microvillus; ISO:MGI.
DR GO; GO:0005886; C:plasma membrane; ISO:MGI.
DR GO; GO:0032420; C:stereocilium; IDA:MGI.
DR GO; GO:0030140; C:trans-Golgi network transport vesicle; IDA:MGI.
DR GO; GO:0007015; P:actin filament organization; ISO:MGI.
DR GO; GO:0060117; P:auditory receptor cell development; IMP:MGI.
DR GO; GO:0060088; P:auditory receptor cell stereocilium organization; IMP:MGI.
DR GO; GO:0048870; P:cell motility; ISO:MGI.
DR GO; GO:0050957; P:equilibrioception; ISO:MGI.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IMP:MGI.
DR GO; GO:0045494; P:photoreceptor cell maintenance; ISO:MGI.
DR GO; GO:0010592; P:positive regulation of lamellipodium assembly; ISO:MGI.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0050953; P:sensory perception of light stimulus; ISO:MGI.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR InterPro; IPR026748; Clarin.
DR PANTHER; PTHR31548; PTHR31548; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Glycoprotein; Hearing; Membrane;
KW Reference proteome; Sensory transduction; Transmembrane;
KW Transmembrane helix; Vision.
FT CHAIN 1..232
FT /note="Clarin-1"
FT /id="PRO_0000274695"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 101..121
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 135..155
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 186..206
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 48
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 184
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 84..85
FT /note="SF -> SSRSMKERYSLYEDKGETAV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12080385"
FT /id="VSP_022870"
SQ SEQUENCE 232 AA; 25804 MW; 6B782144A070DB3F CRC64;
MPSQQKKIIF CMAGVLSFLC ALGVVTAVGT PLWVKATILC KTGALLVNAS GKELDKFMGE
MQYGLFHGEG VRQCGLGARP FRFSFFPDLV QAIPVSIHIN IILFSMILVV LTMVGTAFFM
YNAFGKPFET LHGPLGLYLV SFISGSCGCL VMILFASEVK VHRLSEKIAN FKEGTYAYRT
QNENYTTSFW VVFICFFVHF LNGLLIRLAG FQFPFTKSKE TETTNVASDL MY
