LRRC1_HUMAN
ID LRRC1_HUMAN Reviewed; 524 AA.
AC Q9BTT6; Q5TGN3; Q9HAC0; Q9NVF1;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Leucine-rich repeat-containing protein 1;
DE AltName: Full=LANO adapter protein;
DE AltName: Full=LAP and no PDZ protein;
GN Name=LRRC1; Synonyms=LANO;
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] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR
RP LOCATION, INTERACTION WITH DLG1 AND DLG4, AND COMPONENT OF A COMPLEX WITH
RP DLG1 AND ERBBIP2.
RX PubMed=11440998; DOI=10.1074/jbc.c100330200;
RA Saito H., Santoni M.-J., Arsanto J.-P., Jaulin-Bastard F., Le Bivic A.,
RA Marchetto S., Audebert S., Isnardon D., Adelaide J., Birnbaum D.,
RA Borg J.-P.;
RT "Lano, a novel LAP protein directly connected to MAGUK proteins in
RT epithelial cells.";
RL J. Biol. Chem. 276:32051-32055(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT VAL-193.
RX PubMed=12200217; DOI=10.1016/s0920-1211(02)00052-9;
RA Suzuki T., Morita R., Sugimoto Y., Sugawara T., Bai D.S., Alonso M.E.,
RA Medina M.T., Bailey J.N., Rasmussen A., Ramos-Peek J., Cordova S.,
RA Rubio-Donnadieu F., Ochoa A., Jara-Prado A., Inazawa J.,
RA Delgado-Escueta A.V., Yamakawa K.;
RT "Identification and mutational analysis of candidate genes for juvenile
RT myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.";
RL Epilepsy Res. 50:265-275(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Embryo;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-480, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBUNIT: Interacts with DLG1 and DLG4. May form a complex with DLG1 and
CC ERBIN, where interaction between LRRC1 and ERBIN is indirect.
CC {ECO:0000269|PubMed:11440998}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11440998}. Membrane
CC {ECO:0000269|PubMed:11440998}; Peripheral membrane protein
CC {ECO:0000269|PubMed:11440998}. Note=Localized at the basolateral side
CC of epithelial cells.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BTT6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BTT6-2; Sequence=VSP_010912, VSP_010913;
CC -!- TISSUE SPECIFICITY: Expressed strongly in testis and placenta, followed
CC by heart, lung, kidney, thyroid, trachea, colon, prostate and pancreas.
CC {ECO:0000269|PubMed:11440998}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91801.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF359380; AAK72246.1; -; mRNA.
DR EMBL; AF332199; AAK69623.1; -; mRNA.
DR EMBL; AK021896; BAB13929.1; -; mRNA.
DR EMBL; AK001637; BAA91801.1; ALT_FRAME; mRNA.
DR EMBL; AL513211; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL033384; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX04430.1; -; Genomic_DNA.
DR EMBL; BC003193; AAH03193.1; -; mRNA.
DR CCDS; CCDS4953.2; -. [Q9BTT6-1]
DR RefSeq; NP_060684.4; NM_018214.4. [Q9BTT6-1]
DR RefSeq; XP_011513028.1; XM_011514726.2. [Q9BTT6-1]
DR AlphaFoldDB; Q9BTT6; -.
DR SMR; Q9BTT6; -.
DR BioGRID; 120522; 88.
DR IntAct; Q9BTT6; 28.
DR MINT; Q9BTT6; -.
DR STRING; 9606.ENSP00000359925; -.
DR GlyGen; Q9BTT6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BTT6; -.
DR PhosphoSitePlus; Q9BTT6; -.
DR SwissPalm; Q9BTT6; -.
DR BioMuta; LRRC1; -.
DR DMDM; 50401149; -.
DR EPD; Q9BTT6; -.
DR jPOST; Q9BTT6; -.
DR MassIVE; Q9BTT6; -.
DR MaxQB; Q9BTT6; -.
DR PaxDb; Q9BTT6; -.
DR PeptideAtlas; Q9BTT6; -.
DR PRIDE; Q9BTT6; -.
DR ProteomicsDB; 79009; -. [Q9BTT6-1]
DR ProteomicsDB; 79010; -. [Q9BTT6-2]
DR Antibodypedia; 17278; 95 antibodies from 26 providers.
DR DNASU; 55227; -.
DR Ensembl; ENST00000370888.6; ENSP00000359925.1; ENSG00000137269.15. [Q9BTT6-1]
DR Ensembl; ENST00000487251.5; ENSP00000435217.1; ENSG00000137269.15. [Q9BTT6-2]
DR GeneID; 55227; -.
DR KEGG; hsa:55227; -.
DR MANE-Select; ENST00000370888.6; ENSP00000359925.1; NM_018214.5; NP_060684.4.
DR UCSC; uc003pcd.2; human. [Q9BTT6-1]
DR CTD; 55227; -.
DR DisGeNET; 55227; -.
DR GeneCards; LRRC1; -.
DR HGNC; HGNC:14307; LRRC1.
DR HPA; ENSG00000137269; Low tissue specificity.
DR MIM; 608195; gene.
DR neXtProt; NX_Q9BTT6; -.
DR OpenTargets; ENSG00000137269; -.
DR PharmGKB; PA30460; -.
DR VEuPathDB; HostDB:ENSG00000137269; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000154025; -.
DR HOGENOM; CLU_000288_18_15_1; -.
DR InParanoid; Q9BTT6; -.
DR OMA; VIDKRHC; -.
DR OrthoDB; 992188at2759; -.
DR PhylomeDB; Q9BTT6; -.
DR TreeFam; TF351429; -.
DR PathwayCommons; Q9BTT6; -.
DR Reactome; R-HSA-9696270; RND2 GTPase cycle.
DR SignaLink; Q9BTT6; -.
DR BioGRID-ORCS; 55227; 37 hits in 1073 CRISPR screens.
DR ChiTaRS; LRRC1; human.
DR GenomeRNAi; 55227; -.
DR Pharos; Q9BTT6; Tbio.
DR PRO; PR:Q9BTT6; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9BTT6; protein.
DR Bgee; ENSG00000137269; Expressed in tibia and 182 other tissues.
DR ExpressionAtlas; Q9BTT6; baseline and differential.
DR Genevisible; Q9BTT6; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR Gene3D; 3.80.10.10; -; 3.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 3.
DR SMART; SM00369; LRR_TYP; 13.
DR PROSITE; PS51450; LRR; 16.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Leucine-rich repeat;
KW Membrane; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..524
FT /note="Leucine-rich repeat-containing protein 1"
FT /id="PRO_0000084489"
FT REPEAT 11..34
FT /note="LRR 1"
FT REPEAT 35..58
FT /note="LRR 2"
FT REPEAT 60..81
FT /note="LRR 3"
FT REPEAT 83..105
FT /note="LRR 4"
FT REPEAT 107..126
FT /note="LRR 5"
FT REPEAT 127..149
FT /note="LRR 6"
FT REPEAT 150..172
FT /note="LRR 7"
FT REPEAT 173..196
FT /note="LRR 8"
FT REPEAT 198..218
FT /note="LRR 9"
FT REPEAT 219..242
FT /note="LRR 10"
FT REPEAT 244..264
FT /note="LRR 11"
FT REPEAT 265..288
FT /note="LRR 12"
FT REPEAT 290..310
FT /note="LRR 13"
FT REPEAT 311..334
FT /note="LRR 14"
FT REPEAT 336..356
FT /note="LRR 15"
FT REPEAT 357..380
FT /note="LRR 16"
FT REPEAT 382..405
FT /note="LRR 17"
FT COILED 484..512
FT /evidence="ECO:0000255"
FT MOD_RES 480
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 190..197
FT /note="PESIGALL -> NQLEPSYI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_010912"
FT VAR_SEQ 198..524
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_010913"
FT VARIANT 193
FT /note="I -> V (in dbSNP:rs9349688)"
FT /evidence="ECO:0000269|PubMed:12200217"
FT /id="VAR_019431"
SQ SEQUENCE 524 AA; 59242 MW; B40251635C90469C CRC64;
MFHCIPLWRC NRHVESIDKR HCSLVYVPEE IYRYARSLEE LLLDANQLRE LPEQFFQLVK
LRKLGLSDNE IQRLPPEIAN FMQLVELDVS RNEIPEIPES ISFCKALQVA DFSGNPLTRL
PESFPELQNL TCLSVNDISL QSLPENIGNL YNLASLELRE NLLTYLPDSL TQLRRLEELD
LGNNEIYNLP ESIGALLHLK DLWLDGNQLS ELPQEIGNLK NLLCLDVSEN RLERLPEEIS
GLTSLTDLVI SQNLLETIPD GIGKLKKLSI LKVDQNRLTQ LPEAVGECES LTELVLTENQ
LLTLPKSIGK LKKLSNLNAD RNKLVSLPKE IGGCCSLTVF CVRDNRLTRI PAEVSQATEL
HVLDVAGNRL LHLPLSLTAL KLKALWLSDN QSQPLLTFQT DTDYTTGEKI LTCVLLPQLP
SEPTCQENLP RCGALENLVN DVSDEAWNER AVNRVSAIRF VEDEKDEEDN ETRTLLRRAT
PHPGELKHMK KTVENLRNDM NAAKGLDSNK NEVNHAIDRV TTSV
