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LRC51_PANTR
ID   LRC51_PANTR             Reviewed;         192 AA.
AC   B6CZ40; B6CZ41; B6CZ42; B6CZ43; B6CZ44;
DT   05-MAY-2009, integrated into UniProtKB/Swiss-Prot.
DT   25-NOV-2008, sequence version 1.
DT   25-MAY-2022, entry version 42.
DE   RecName: Full=Leucine-rich repeat-containing protein 51 {ECO:0000250|UniProtKB:Q96E66};
DE   AltName: Full=Protein LRTOMT1 {ECO:0000303|PubMed:18953341};
GN   Name=LRRC51 {ECO:0000250|UniProtKB:Q96E66};
GN   Synonyms=LRTOMT {ECO:0000303|PubMed:18953341};
OS   Pan troglodytes (Chimpanzee).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Pan.
OX   NCBI_TaxID=9598;
RN   [1] {ECO:0000305, ECO:0000312|EMBL:ACF40881.1}
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5).
RC   TISSUE=Brain {ECO:0000312|EMBL:ACF40881.1};
RX   PubMed=18953341; DOI=10.1038/ng.245;
RA   Ahmed Z.M., Masmoudi S., Kalay E., Belyantseva I.A., Mosrati M.A.,
RA   Collin R.W.J., Riazuddin S., Hmani-Aifa M., Venselaar H., Kawar M.N.,
RA   Tlili A., van der Zwaag B., Khan S.Y., Ayadi L., Riazuddin S.A.,
RA   Morell R.J., Griffith A.J., Charfedine I., Caylan R., Oostrik J.,
RA   Karaguzel A., Ghorbel A., Riazuddin S., Friedman T.B., Ayadi H., Kremer H.;
RT   "Mutations of LRTOMT, a fusion gene with alternative reading frames, cause
RT   nonsyndromic deafness in humans.";
RL   Nat. Genet. 40:1335-1340(2008).
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9DAK8}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=5;
CC       Name=1 {ECO:0000269|PubMed:18953341}; Synonyms=A
CC       {ECO:0000269|PubMed:18953341};
CC         IsoId=B6CZ40-1; Sequence=Displayed;
CC       Name=2 {ECO:0000269|PubMed:18953341}; Synonyms=B
CC       {ECO:0000269|PubMed:18953341};
CC         IsoId=B6CZ40-2; Sequence=VSP_053061, VSP_053062;
CC       Name=3 {ECO:0000269|PubMed:18953341}; Synonyms=C
CC       {ECO:0000269|PubMed:18953341};
CC         IsoId=B6CZ40-3; Sequence=VSP_053065;
CC       Name=4 {ECO:0000269|PubMed:18953341}; Synonyms=D
CC       {ECO:0000269|PubMed:18953341};
CC         IsoId=B6CZ40-4; Sequence=VSP_053063;
CC       Name=5 {ECO:0000269|PubMed:18953341}; Synonyms=E
CC       {ECO:0000269|PubMed:18953341};
CC         IsoId=B6CZ40-5; Sequence=VSP_053064;
CC   -!- MISCELLANEOUS: LRRC51 and TOMT were originally considered as
CC       alternative reading frames, LRTOMT1 and LRTOMT2 of the same LRTOMT gene
CC       in primates. {ECO:0000303|PubMed:18953341}.
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DR   EMBL; EU627071; ACF40881.1; -; mRNA.
DR   EMBL; EU627072; ACF40882.1; -; mRNA.
DR   EMBL; EU627073; ACF40883.1; -; mRNA.
DR   EMBL; EU627074; ACF40884.1; -; mRNA.
DR   EMBL; EU627075; ACF40885.1; -; mRNA.
DR   RefSeq; NP_001138337.1; NM_001144865.1. [B6CZ40-1]
DR   AlphaFoldDB; B6CZ40; -.
DR   SMR; B6CZ40; -.
DR   GeneID; 748243; -.
DR   KEGG; ptr:748243; -.
DR   CTD; 220074; -.
DR   Proteomes; UP000002277; Unplaced.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   Gene3D; 3.80.10.10; -; 1.
DR   InterPro; IPR001611; Leu-rich_rpt.
DR   InterPro; IPR032675; LRR_dom_sf.
DR   InterPro; IPR043196; LRTOMT1.
DR   PANTHER; PTHR46545; PTHR46545; 1.
DR   PROSITE; PS51450; LRR; 4.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Cytoplasm; Leucine-rich repeat; Reference proteome;
KW   Repeat.
FT   CHAIN           1..192
FT                   /note="Leucine-rich repeat-containing protein 51"
FT                   /id="PRO_0000370742"
FT   REPEAT          49..71
FT                   /note="LRR 1"
FT   REPEAT          80..101
FT                   /note="LRR 2"
FT   REPEAT          103..124
FT                   /note="LRR 3"
FT   DOMAIN          137..175
FT                   /note="LRRCT"
FT   VAR_SEQ         98..99
FT                   /note="LT -> SS (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:18953341"
FT                   /id="VSP_053061"
FT   VAR_SEQ         100..192
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:18953341"
FT                   /id="VSP_053062"
FT   VAR_SEQ         146..192
FT                   /note="RQYVLCTLSRITTFDFAGVTKADRTTAEVWKRMNIKPKKAWIKRNTL -> S
FT                   RPWTPPPVLCSGPPAQGPGRDHVPCHCIGLPATGGNIAGAVPALLPIAGAHGLAAKPPR
FT                   LPVRAADRGAGLQLCAHPCPAR (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:18953341"
FT                   /id="VSP_053063"
FT   VAR_SEQ         146..192
FT                   /note="RQYVLCTLSRITTFDFAGVTKADRTTAEVWKRMNIKPKKAWIKRNTL -> S
FT                   RPWTPPPVLCSGPPAQPPRLPVRAADRGAGLQLCAHPCPAR (in isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:18953341"
FT                   /id="VSP_053064"
FT   VAR_SEQ         147..192
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:18953341"
FT                   /id="VSP_053065"
FT   CONFLICT        25
FT                   /note="V -> I (in Ref. 1; ACF40883)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        116
FT                   /note="R -> H (in Ref. 1; ACF40883)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   192 AA;  22230 MW;  D4DF76A211E4D946 CRC64;
     MNKRDYMNTS VQEPPLDYSF RSIHVIQDLV NEEPRTGLRP LKRSKSGKSL TQSLWLNNNV
     LNDLRDFNQV ASQLLEHPEN LAWIDLSFND LTSIDPVLTT FFNLSVLYLH GNSIQRLGEV
     NKLAVLPRLR SLTLHGNPME EEKGYRQYVL CTLSRITTFD FAGVTKADRT TAEVWKRMNI
     KPKKAWIKRN TL
 
 
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