LRC40_HUMAN
ID LRC40_HUMAN Reviewed; 602 AA.
AC Q9H9A6; Q9BTR7; Q9NSK1; Q9NXC1;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Leucine-rich repeat-containing protein 40;
GN Name=LRRC40;
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 [LARGE SCALE MRNA].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 430-602.
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-71, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
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 -!- INTERACTION:
CC Q9H9A6; Q4LDG9: DNAL1; NbExp=3; IntAct=EBI-1043135, EBI-12843080;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91094.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK000338; BAA91094.1; ALT_INIT; mRNA.
DR EMBL; AK022951; BAB14326.1; -; mRNA.
DR EMBL; AL353771; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC003407; AAH03407.2; -; mRNA.
DR EMBL; BC008586; AAH08586.1; -; mRNA.
DR EMBL; AL162076; CAB82410.1; -; mRNA.
DR CCDS; CCDS646.1; -.
DR PIR; T47176; T47176.
DR RefSeq; NP_060238.3; NM_017768.4.
DR AlphaFoldDB; Q9H9A6; -.
DR SMR; Q9H9A6; -.
DR BioGRID; 120770; 60.
DR IntAct; Q9H9A6; 26.
DR MINT; Q9H9A6; -.
DR STRING; 9606.ENSP00000359990; -.
DR iPTMnet; Q9H9A6; -.
DR PhosphoSitePlus; Q9H9A6; -.
DR SwissPalm; Q9H9A6; -.
DR BioMuta; LRRC40; -.
DR DMDM; 74761553; -.
DR REPRODUCTION-2DPAGE; IPI00152998; -.
DR EPD; Q9H9A6; -.
DR jPOST; Q9H9A6; -.
DR MassIVE; Q9H9A6; -.
DR MaxQB; Q9H9A6; -.
DR PaxDb; Q9H9A6; -.
DR PeptideAtlas; Q9H9A6; -.
DR PRIDE; Q9H9A6; -.
DR ProteomicsDB; 81305; -.
DR Antibodypedia; 19653; 123 antibodies from 21 providers.
DR DNASU; 55631; -.
DR Ensembl; ENST00000370952.4; ENSP00000359990.3; ENSG00000066557.6.
DR GeneID; 55631; -.
DR KEGG; hsa:55631; -.
DR MANE-Select; ENST00000370952.4; ENSP00000359990.3; NM_017768.5; NP_060238.3.
DR UCSC; uc001der.3; human.
DR CTD; 55631; -.
DR GeneCards; LRRC40; -.
DR HGNC; HGNC:26004; LRRC40.
DR HPA; ENSG00000066557; Low tissue specificity.
DR neXtProt; NX_Q9H9A6; -.
DR OpenTargets; ENSG00000066557; -.
DR PharmGKB; PA142671528; -.
DR VEuPathDB; HostDB:ENSG00000066557; -.
DR eggNOG; KOG0472; Eukaryota.
DR GeneTree; ENSGT00940000156968; -.
DR HOGENOM; CLU_000288_18_23_1; -.
DR InParanoid; Q9H9A6; -.
DR OMA; RINMHAI; -.
DR OrthoDB; 826997at2759; -.
DR PhylomeDB; Q9H9A6; -.
DR TreeFam; TF354310; -.
DR PathwayCommons; Q9H9A6; -.
DR SignaLink; Q9H9A6; -.
DR BioGRID-ORCS; 55631; 9 hits in 1077 CRISPR screens.
DR ChiTaRS; LRRC40; human.
DR GeneWiki; LRRC40; -.
DR GenomeRNAi; 55631; -.
DR Pharos; Q9H9A6; Tdark.
DR PRO; PR:Q9H9A6; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9H9A6; protein.
DR Bgee; ENSG00000066557; Expressed in jejunal mucosa and 206 other tissues.
DR ExpressionAtlas; Q9H9A6; baseline and differential.
DR Genevisible; Q9H9A6; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0004722; F:protein serine/threonine phosphatase activity; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 4.
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; 4.
DR SMART; SM00369; LRR_TYP; 13.
DR PROSITE; PS51450; LRR; 17.
PE 1: Evidence at protein level;
KW Leucine-rich repeat; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..602
FT /note="Leucine-rich repeat-containing protein 40"
FT /id="PRO_0000226257"
FT REPEAT 83..104
FT /note="LRR 1"
FT REPEAT 106..127
FT /note="LRR 2"
FT REPEAT 129..150
FT /note="LRR 3"
FT REPEAT 152..173
FT /note="LRR 4"
FT REPEAT 175..196
FT /note="LRR 5"
FT REPEAT 198..219
FT /note="LRR 6"
FT REPEAT 221..242
FT /note="LRR 7"
FT REPEAT 244..265
FT /note="LRR 8"
FT REPEAT 266..286
FT /note="LRR 9"
FT REPEAT 290..311
FT /note="LRR 10"
FT REPEAT 313..335
FT /note="LRR 11"
FT REPEAT 336..356
FT /note="LRR 12"
FT REPEAT 400..421
FT /note="LRR 13"
FT REPEAT 426..447
FT /note="LRR 14"
FT REPEAT 450..472
FT /note="LRR 15"
FT REPEAT 473..494
FT /note="LRR 16"
FT REPEAT 496..517
FT /note="LRR 17"
FT REPEAT 519..540
FT /note="LRR 18"
FT REPEAT 543..564
FT /note="LRR 19"
FT REPEAT 566..586
FT /note="LRR 20"
FT MOD_RES 71
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VARIANT 53
FT /note="Q -> P (in dbSNP:rs270495)"
FT /id="VAR_034088"
FT VARIANT 500
FT /note="I -> V (in dbSNP:rs3180401)"
FT /id="VAR_034089"
FT CONFLICT 368
FT /note="K -> T (in Ref. 1; BAA91094)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 602 AA; 68250 MW; BB126CAC02749C8A CRC64;
MSRLKRIAGQ DLRAGFKAGG RDCGTSVPQG LLKAARKSGQ LNLSGRNLSE VPQCVWRINV
DIPEEANQNL SFGATERWWE QTDLTKLIIS NNKLQSLTDD LRLLPALTVL DIHDNQLTSL
PSAIRELENL QKLNVSHNKL KILPEEITNL RNLKCLYLQH NELTCISEGF EQLSNLEDLD
LSNNHLTTVP ASFSSLSSLV RLNLSSNELK SLPAEINRMK RLKHLDCNSN LLETIPPELA
GMESLELLYL RRNKLRFLPE FPSCSLLKEL HVGENQIEML EAEHLKHLNS ILVLDLRDNK
LKSVPDEIIL LRSLERLDLS NNDISSLPYS LGNLHLKFLA LEGNPLRTIR REIISKGTQE
VLKYLRSKIK DDGPSQSESA TETAMTLPSE SRVNIHAIIT LKILDYSDKQ ATLIPDEVFD
AVKSNIVTSI NFSKNQLCEI PKRMVELKEM VSDVDLSFNK LSFISLELCV LQKLTFLDLR
NNFLNSLPEE MESLVRLQTI NLSFNRFKML PEVLYRIFTL ETILISNNQV GSVDPQKMKM
MENLTTLDLQ NNDLLQIPPE LGNCVNLRTL LLDGNPFRVP RAAILMKGTA AILEYLRDRI
PT
