LRC51_MACMU
ID LRC51_MACMU Reviewed; 192 AA.
AC B6CZ45; B6CZ48;
DT 05-MAY-2009, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 1.
DT 03-AUG-2022, entry version 60.
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 Macaca mulatta (Rhesus macaque).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini;
OC Cercopithecidae; Cercopithecinae; Macaca.
OX NCBI_TaxID=9544;
RN [1] {ECO:0000305, ECO:0000312|EMBL:ACF40886.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain {ECO:0000312|EMBL:ACF40886.1};
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=2;
CC Name=1 {ECO:0000269|PubMed:18953341}; Synonyms=A
CC {ECO:0000269|PubMed:18953341};
CC IsoId=B6CZ45-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:18953341}; Synonyms=D
CC {ECO:0000269|PubMed:18953341};
CC IsoId=B6CZ45-2; Sequence=VSP_053060;
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; EU627076; ACF40886.1; -; mRNA.
DR EMBL; EU627079; ACF40889.1; -; mRNA.
DR RefSeq; NP_001186283.1; NM_001199354.1. [B6CZ45-1]
DR RefSeq; XP_014970531.1; XM_015115045.1. [B6CZ45-1]
DR RefSeq; XP_014970532.1; XM_015115046.1. [B6CZ45-1]
DR RefSeq; XP_014970533.1; XM_015115047.1. [B6CZ45-1]
DR RefSeq; XP_014970534.1; XM_015115048.1. [B6CZ45-1]
DR RefSeq; XP_014970535.1; XM_015115049.1. [B6CZ45-1]
DR AlphaFoldDB; B6CZ45; -.
DR SMR; B6CZ45; -.
DR STRING; 9544.ENSMMUP00000028021; -.
DR Ensembl; ENSMMUT00000057173; ENSMMUP00000057813; ENSMMUG00000021280. [B6CZ45-1]
DR GeneID; 718286; -.
DR KEGG; mcc:718286; -.
DR CTD; 220074; -.
DR VEuPathDB; HostDB:ENSMMUG00000021280; -.
DR eggNOG; KOG1644; Eukaryota.
DR GeneTree; ENSGT00940000161220; -.
DR HOGENOM; CLU_095080_1_1_1; -.
DR OMA; HQSNSRC; -.
DR TreeFam; TF329158; -.
DR Proteomes; UP000006718; Chromosome 14.
DR Bgee; ENSMMUG00000021280; Expressed in spermatid and 20 other tissues.
DR ExpressionAtlas; B6CZ45; baseline.
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_0000370741"
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 147..192
FT /note="QYVLCTLPHITTFDFSGVTKADRTTAEVWKRMNIKPKKARIKQNTL -> VE
FT PGRPR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:18953341"
FT /id="VSP_053060"
SQ SEQUENCE 192 AA; 22160 MW; CD3A16A0DD1E82BD CRC64;
MNKRDYMNTS VQEPPLDYSF RSIHVIQDLV NEEPRTGLRP LKRSKSGKSL TQSLWLNNNV
LNDLRDFNQV ASQLLEHPEN LAWIDLSFND LTSIDPVLTT FFNLSVLYLH GNSIQHLGEV
NKLAVLPRLR SLTLHGNPME EEKGYRQYVL CTLPHITTFD FSGVTKADRT TAEVWKRMNI
KPKKARIKQN TL