LRC43_HUMAN
ID LRC43_HUMAN Reviewed; 656 AA.
AC Q8N309; Q6ZVT9;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Leucine-rich repeat-containing protein 43;
GN Name=LRRC43;
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] (ISOFORM 3), AND VARIANT LYS-256.
RC TISSUE=Testis;
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N309-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N309-2; Sequence=VSP_029636;
CC Name=3;
CC IsoId=Q8N309-3; Sequence=VSP_029636, VSP_029637;
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DR EMBL; AK124107; BAC85772.1; -; mRNA.
DR EMBL; AC048338; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029245; AAH29245.1; -; mRNA.
DR CCDS; CCDS45001.1; -. [Q8N309-1]
DR RefSeq; NP_001091989.1; NM_001098519.1. [Q8N309-1]
DR RefSeq; NP_689972.3; NM_152759.4. [Q8N309-2]
DR AlphaFoldDB; Q8N309; -.
DR SMR; Q8N309; -.
DR STRING; 9606.ENSP00000344233; -.
DR iPTMnet; Q8N309; -.
DR PhosphoSitePlus; Q8N309; -.
DR BioMuta; LRRC43; -.
DR DMDM; 162416235; -.
DR jPOST; Q8N309; -.
DR MassIVE; Q8N309; -.
DR PaxDb; Q8N309; -.
DR PeptideAtlas; Q8N309; -.
DR PRIDE; Q8N309; -.
DR Antibodypedia; 52948; 26 antibodies from 14 providers.
DR DNASU; 254050; -.
DR Ensembl; ENST00000339777.5; ENSP00000344233.4; ENSG00000158113.13. [Q8N309-1]
DR GeneID; 254050; -.
DR KEGG; hsa:254050; -.
DR MANE-Select; ENST00000339777.5; ENSP00000344233.4; NM_001098519.2; NP_001091989.1.
DR UCSC; uc009zxm.4; human. [Q8N309-1]
DR CTD; 254050; -.
DR DisGeNET; 254050; -.
DR GeneCards; LRRC43; -.
DR HGNC; HGNC:28562; LRRC43.
DR HPA; ENSG00000158113; Tissue enhanced (choroid plexus, fallopian tube).
DR neXtProt; NX_Q8N309; -.
DR OpenTargets; ENSG00000158113; -.
DR PharmGKB; PA142671531; -.
DR VEuPathDB; HostDB:ENSG00000158113; -.
DR eggNOG; KOG0531; Eukaryota.
DR GeneTree; ENSGT00390000008994; -.
DR HOGENOM; CLU_028116_0_0_1; -.
DR InParanoid; Q8N309; -.
DR OMA; STAHKPW; -.
DR PhylomeDB; Q8N309; -.
DR TreeFam; TF330806; -.
DR PathwayCommons; Q8N309; -.
DR BioGRID-ORCS; 254050; 17 hits in 1065 CRISPR screens.
DR GenomeRNAi; 254050; -.
DR Pharos; Q8N309; Tdark.
DR PRO; PR:Q8N309; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8N309; protein.
DR Bgee; ENSG00000158113; Expressed in right uterine tube and 128 other tissues.
DR ExpressionAtlas; Q8N309; baseline and differential.
DR Genevisible; Q8N309; HS.
DR GO; GO:0000164; C:protein phosphatase type 1 complex; IBA:GO_Central.
DR GO; GO:0004865; F:protein serine/threonine phosphatase inhibitor activity; IBA:GO_Central.
DR GO; GO:0035307; P:positive regulation of protein dephosphorylation; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 1.
DR PROSITE; PS51450; LRR; 5.
PE 2: Evidence at transcript level;
KW Alternative splicing; Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..656
FT /note="Leucine-rich repeat-containing protein 43"
FT /id="PRO_0000311908"
FT REPEAT 150..170
FT /note="LRR 1"
FT REPEAT 172..193
FT /note="LRR 2"
FT REPEAT 196..215
FT /note="LRR 3"
FT REPEAT 223..244
FT /note="LRR 4"
FT DOMAIN 258..296
FT /note="LRRCT"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 512..554
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..25
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 514..554
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..185
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_029636"
FT VAR_SEQ 221
FT /note="W -> WGRVRLGLGDAVLTAAACVFLLFSELRSICFLVCGSRLLAPCSPGFL
FT TPRRSCSPSR (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029637"
FT VARIANT 256
FT /note="Q -> K (in dbSNP:rs11060094)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_037338"
FT VARIANT Q8N309-3:61
FT /note="L -> P (in dbSNP:rs10847725)"
FT /evidence="ECO:0000305"
FT /id="VAR_082884"
SQ SEQUENCE 656 AA; 73022 MW; 3A196CBB6D571471 CRC64;
MEASYESESE SESEAGPGTQ RPGTGTVSAA VREHLRKLCL REFPCGAGSW NKSRFLPQTW
RTWRELVPRE EDVVSPGEET VEALLGLVRS RHSPWALLNN SNAEDSFLRE LAIRNPLTIT
DTFFYSYFRS LRVIDKKVTL VDKDLLKFLK LEELVLSANR IKEVDATNLP PTLKVLELYG
NEISSMECLC AHPPAGLQHL GLGHNKLLGP LESLYVTANH WPNLVSLDLG FNDLTDLQSM
VTSLRTLRHL RLLVLQGNPL ALVPYYRGLT IDSLAQLCVL DDITVSPNEK HLFRGLSLNG
DLLAQEAQFV VTIGNIRGVL DTSVLDPEPR PEGPFITYNY YVTYDFVKDE EGEMNESAGV
LAEIVKPSPS LELLVEESPE EVVEDVIEDI VEEVTEEVEG SLESEVEESG ESELSVISGP
STILQMPRAS AEELAKLRLR IDPRLCPSPG TVLFSTAHKP WAEVIPCSYE MQHSLRDLVP
LKAFLLAGTT VTIVEEKILS WPVVLPAVDS PLSAKKGKGE KDKKGKEKDR TGKGEKEPAK
EWKVLKKKKE PPKELRQDPP ILQVLGRGLV ILEPLLAGEP LVSTVCNFGV VRTLTSDRLT
LARDSKKIKK VAKKEKPKAV IPIYEGDYHP EPLTVEVQIQ LNQCRSAEEA LRMFAV
