CLRN3_HUMAN
ID CLRN3_HUMAN Reviewed; 226 AA.
AC Q8NCR9; Q6MZX8;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Clarin-3;
DE AltName: Full=Transmembrane protein 12;
DE AltName: Full=Usher syndrome type-3A-like protein 1;
GN Name=CLRN3; Synonyms=TMEM12, USH3AL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Rectum tumor;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT ASN-22.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- INTERACTION:
CC Q8NCR9; P42858: HTT; NbExp=9; IntAct=EBI-9091272, EBI-466029;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NCR9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NCR9-2; Sequence=VSP_022871, VSP_022872;
CC -!- SIMILARITY: Belongs to the clarin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAE45899.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BX640823; CAE45899.1; ALT_INIT; mRNA.
DR EMBL; AL158166; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029478; AAH29478.1; -; mRNA.
DR CCDS; CCDS7656.1; -. [Q8NCR9-1]
DR RefSeq; NP_689524.1; NM_152311.4. [Q8NCR9-1]
DR AlphaFoldDB; Q8NCR9; -.
DR BioGRID; 125642; 5.
DR IntAct; Q8NCR9; 3.
DR STRING; 9606.ENSP00000357660; -.
DR TCDB; 9.A.46.1.3; the clarin (clrn) family.
DR GlyGen; Q8NCR9; 1 site.
DR iPTMnet; Q8NCR9; -.
DR PhosphoSitePlus; Q8NCR9; -.
DR BioMuta; CLRN3; -.
DR DMDM; 74751198; -.
DR jPOST; Q8NCR9; -.
DR MassIVE; Q8NCR9; -.
DR MaxQB; Q8NCR9; -.
DR PaxDb; Q8NCR9; -.
DR PeptideAtlas; Q8NCR9; -.
DR PRIDE; Q8NCR9; -.
DR ProteomicsDB; 72933; -. [Q8NCR9-1]
DR ProteomicsDB; 72934; -. [Q8NCR9-2]
DR Antibodypedia; 19247; 116 antibodies from 21 providers.
DR DNASU; 119467; -.
DR Ensembl; ENST00000368671.4; ENSP00000357660.3; ENSG00000180745.5. [Q8NCR9-1]
DR GeneID; 119467; -.
DR KEGG; hsa:119467; -.
DR MANE-Select; ENST00000368671.4; ENSP00000357660.3; NM_152311.5; NP_689524.1.
DR UCSC; uc001lka.2; human. [Q8NCR9-1]
DR CTD; 119467; -.
DR GeneCards; CLRN3; -.
DR HGNC; HGNC:20795; CLRN3.
DR HPA; ENSG00000180745; Group enriched (intestine, kidney, liver).
DR neXtProt; NX_Q8NCR9; -.
DR OpenTargets; ENSG00000180745; -.
DR PharmGKB; PA162382510; -.
DR VEuPathDB; HostDB:ENSG00000180745; -.
DR eggNOG; ENOG502S2S8; Eukaryota.
DR GeneTree; ENSGT00850000132319; -.
DR HOGENOM; CLU_1224445_0_0_1; -.
DR InParanoid; Q8NCR9; -.
DR OMA; PTGVYTW; -.
DR OrthoDB; 1309543at2759; -.
DR PhylomeDB; Q8NCR9; -.
DR TreeFam; TF331875; -.
DR PathwayCommons; Q8NCR9; -.
DR SignaLink; Q8NCR9; -.
DR BioGRID-ORCS; 119467; 9 hits in 1063 CRISPR screens.
DR GenomeRNAi; 119467; -.
DR Pharos; Q8NCR9; Tdark.
DR PRO; PR:Q8NCR9; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8NCR9; protein.
DR Bgee; ENSG00000180745; Expressed in ileal mucosa and 70 other tissues.
DR Genevisible; Q8NCR9; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0007605; P:sensory perception of sound; IEA:UniProt.
DR InterPro; IPR026748; Clarin.
DR PANTHER; PTHR31548; PTHR31548; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..226
FT /note="Clarin-3"
FT /id="PRO_0000274698"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 92..112
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 129..149
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 181..201
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 83
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..68
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_022871"
FT VAR_SEQ 69..76
FT /note="AEPKKKFA -> MHSQNIVL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_022872"
FT VARIANT 22
FT /note="I -> N"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069399"
FT VARIANT 75
FT /note="F -> I (in dbSNP:rs35070529)"
FT /id="VAR_053828"
SQ SEQUENCE 226 AA; 25321 MW; 3139127324A08CF1 CRC64;
MPTTKKTLMF LSSFFTSLGS FIVICSILGT QAWITSTIAV RDSASNGSIF ITYGLFRGES
SEELSHGLAE PKKKFAVLEI LNNSSQKTLH SVTILFLVLS LITSLLSSGF TFYNSISNPY
QTFLGPTGVY TWNGLGASFV FVTMILFVAN TQSNQLSEEL FQMLYPATTS KGTTHSYGYS
FWLILLVILL NIVTVTIIIF YQKARYQRKQ EQRKPMEYAP RDGILF
