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