LRC51_HUMAN
ID LRC51_HUMAN Reviewed; 192 AA.
AC Q96E66; B2R7X1; B6CZ35; B6CZ36; B6CZ37; B6CZ38; B6CZ39; B7Z5I4;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Leucine-rich repeat-containing protein 51 {ECO:0000305};
DE AltName: Full=Protein LRTOMT1 {ECO:0000303|PubMed:18953341};
GN Name=LRRC51 {ECO:0000312|HGNC:HGNC:55526};
GN Synonyms=LRTOMT {ECO:0000303|PubMed:18953341};
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 [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5).
RC TISSUE=Brain;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 6).
RC TISSUE=Brain, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
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).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=A;
CC IsoId=Q96E66-1; Sequence=Displayed;
CC Name=2; Synonyms=B;
CC IsoId=Q96E66-2; Sequence=VSP_036895;
CC Name=3; Synonyms=C;
CC IsoId=Q96E66-3; Sequence=VSP_036896;
CC Name=4; Synonyms=D;
CC IsoId=Q96E66-4; Sequence=VSP_036893;
CC Name=5; Synonyms=E;
CC IsoId=Q96E66-5; Sequence=VSP_036894;
CC Name=6;
CC IsoId=Q96E66-6; Sequence=VSP_041852;
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}.
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 5]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
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DR EMBL; EU627066; ACF40876.1; -; mRNA.
DR EMBL; EU627067; ACF40877.1; -; mRNA.
DR EMBL; EU627068; ACF40878.1; -; mRNA.
DR EMBL; EU627069; ACF40879.1; -; mRNA.
DR EMBL; EU627070; ACF40880.1; -; mRNA.
DR EMBL; AK298997; BAH12920.1; -; mRNA.
DR EMBL; AK313150; BAG35968.1; -; mRNA.
DR EMBL; AP000812; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP002490; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471076; EAW74832.1; -; Genomic_DNA.
DR EMBL; BC012855; AAH12855.1; -; mRNA.
DR RefSeq; NP_001138779.1; NM_001145307.4. [Q96E66-2]
DR RefSeq; NP_001192067.1; NM_001205138.3. [Q96E66-6]
DR RefSeq; NP_001258400.1; NM_001271471.2. [Q96E66-3]
DR RefSeq; NP_001305732.1; NM_001318803.1. [Q96E66-1]
DR RefSeq; NP_660352.1; NM_145309.5. [Q96E66-1]
DR RefSeq; XP_006718536.1; XM_006718473.3. [Q96E66-1]
DR RefSeq; XP_006718537.1; XM_006718474.3. [Q96E66-1]
DR RefSeq; XP_011543149.1; XM_011544847.2. [Q96E66-1]
DR RefSeq; XP_011543150.1; XM_011544848.2. [Q96E66-1]
DR RefSeq; XP_016872848.1; XM_017017359.1.
DR RefSeq; XP_016872849.1; XM_017017360.1.
DR AlphaFoldDB; Q96E66; -.
DR SMR; Q96E66; -.
DR BioGRID; 128624; 17.
DR IntAct; Q96E66; 1.
DR iPTMnet; Q96E66; -.
DR PhosphoSitePlus; Q96E66; -.
DR BioMuta; LRTOMT; -.
DR DMDM; 74760801; -.
DR EPD; Q96E66; -.
DR MassIVE; Q96E66; -.
DR PeptideAtlas; Q96E66; -.
DR PRIDE; Q96E66; -.
DR ProteomicsDB; 76377; -. [Q96E66-1]
DR ProteomicsDB; 76378; -. [Q96E66-2]
DR ProteomicsDB; 76379; -. [Q96E66-3]
DR ProteomicsDB; 76380; -. [Q96E66-4]
DR ProteomicsDB; 76381; -. [Q96E66-5]
DR ProteomicsDB; 76382; -. [Q96E66-6]
DR Antibodypedia; 34978; 61 antibodies from 17 providers.
DR DNASU; 220074; -.
DR Ensembl; ENST00000289488.8; ENSP00000289488.2; ENSG00000184154.16. [Q96E66-1]
DR Ensembl; ENST00000324866.11; ENSP00000440693.1; ENSG00000184154.16. [Q96E66-3]
DR Ensembl; ENST00000423494.6; ENSP00000441249.1; ENSG00000184154.16. [Q96E66-6]
DR Ensembl; ENST00000536917.2; ENSP00000443421.1; ENSG00000184154.16. [Q96E66-3]
DR Ensembl; ENST00000538413.6; ENSP00000438762.2; ENSG00000184154.16. [Q96E66-1]
DR Ensembl; ENST00000538478.5; ENSP00000444583.1; ENSG00000184154.16. [Q96E66-1]
DR Ensembl; ENST00000541614.5; ENSP00000438522.1; ENSG00000184154.16. [Q96E66-2]
DR Ensembl; ENST00000642648.1; ENSP00000494362.1; ENSG00000184154.16. [Q96E66-1]
DR Ensembl; ENST00000647530.1; ENSP00000494072.1; ENSG00000184154.16. [Q96E66-1]
DR GeneID; 120356739; -.
DR GeneID; 220074; -.
DR KEGG; hsa:120356739; -.
DR MANE-Select; ENST00000289488.8; ENSP00000289488.2; NM_145309.6; NP_660352.1.
DR UCSC; uc001orr.4; human. [Q96E66-1]
DR CTD; 120356739; -.
DR CTD; 220074; -.
DR DisGeNET; 220074; -.
DR GeneCards; LRTOMT; -.
DR GeneReviews; LRTOMT; -.
DR HGNC; HGNC:55526; LRRC51.
DR HPA; ENSG00000184154; Tissue enhanced (fallopian tube, testis).
DR MalaCards; LRTOMT; -.
DR MIM; 612414; gene.
DR neXtProt; NX_Q96E66; -.
DR OpenTargets; ENSG00000184154; -.
DR PharmGKB; PA164722133; -.
DR VEuPathDB; HostDB:ENSG00000184154; -.
DR GeneTree; ENSGT00510000047925; -.
DR GeneTree; ENSGT00940000161220; -.
DR HOGENOM; CLU_095080_1_1_1; -.
DR OMA; HQSNSRC; -.
DR PhylomeDB; Q96E66; -.
DR PathwayCommons; Q96E66; -.
DR SignaLink; Q96E66; -.
DR BioGRID-ORCS; 220074; 9 hits in 1073 CRISPR screens.
DR ChiTaRS; LRTOMT; human.
DR GenomeRNAi; 220074; -.
DR Pharos; Q96E66; Tbio.
DR Proteomes; UP000005640; Chromosome 11.
DR Bgee; ENSG00000184154; Expressed in right testis and 98 other tissues.
DR ExpressionAtlas; Q96E66; baseline and differential.
DR Genevisible; Q96E66; HS.
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_0000225500"
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 1..27
FT /note="MNKRDYMNTSVQEPPLDYSFRSIHVIQ -> MVEFQPSVT (in isoform
FT 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041852"
FT VAR_SEQ 146..192
FT /note="RQYVLCTLSRITTFDFSGVTKADRTTAEVWKRMNIKPKKAWTKQNTL -> S
FT RPWTPRPVLCSGPPAQGPGRDHVPCHCIGLPATGGNIAGAVPALLPIAGAHGLAAKPPR
FT LPVRAADRGAGLQLRAHPCPAR (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:18953341"
FT /id="VSP_036893"
FT VAR_SEQ 146..192
FT /note="RQYVLCTLSRITTFDFSGVTKADRTTAEVWKRMNIKPKKAWTKQNTL -> S
FT RPWTPRPVLCSGPPAQPPRLPVRAADRGAGLQLRAHPCPAR (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:18953341"
FT /id="VSP_036894"
FT VAR_SEQ 147..192
FT /note="QYVLCTLSRITTFDFSGVTKADRTTAEVWKRMNIKPKKAWTKQNTL -> VP
FT GSVEMPHRPP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:18953341"
FT /id="VSP_036895"
FT VAR_SEQ 147..192
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:18953341"
FT /id="VSP_036896"
FT CONFLICT 12
FT /note="Q -> R (in Ref. 2; BAG35968)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 192 AA; 22206 MW; FABF76A0C1F53A67 CRC64;
MNKRDYMNTS VQEPPLDYSF RSIHVIQDLV NEEPRTGLRP LKRSKSGKSL TQSLWLNNNV
LNDLRDFNQV ASQLLEHPEN LAWIDLSFND LTSIDPVLTT FFNLSVLYLH GNSIQRLGEV
NKLAVLPRLR SLTLHGNPME EEKGYRQYVL CTLSRITTFD FSGVTKADRT TAEVWKRMNI
KPKKAWTKQN TL
