LRC69_HUMAN
ID LRC69_HUMAN Reviewed; 347 AA.
AC Q6ZNQ3;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Leucine-rich repeat-containing protein 69;
GN Name=LRRC69;
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 2).
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=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
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.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZNQ3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZNQ3-2; Sequence=VSP_033810;
CC -!- SIMILARITY: Belongs to the LRRC69 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK130865; BAC85448.1; -; mRNA.
DR EMBL; AC087439; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104966; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104967; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471060; EAW91678.1; -; Genomic_DNA.
DR CCDS; CCDS87619.1; -. [Q6ZNQ3-2]
DR RefSeq; NP_001123362.1; NM_001129890.1. [Q6ZNQ3-1]
DR AlphaFoldDB; Q6ZNQ3; -.
DR SMR; Q6ZNQ3; -.
DR BioGRID; 934878; 1.
DR IntAct; Q6ZNQ3; 1.
DR STRING; 9606.ENSP00000400803; -.
DR iPTMnet; Q6ZNQ3; -.
DR PhosphoSitePlus; Q6ZNQ3; -.
DR BioMuta; LRRC69; -.
DR DMDM; 189037067; -.
DR MassIVE; Q6ZNQ3; -.
DR PaxDb; Q6ZNQ3; -.
DR PeptideAtlas; Q6ZNQ3; -.
DR PRIDE; Q6ZNQ3; -.
DR Antibodypedia; 63550; 69 antibodies from 15 providers.
DR DNASU; 100130742; -.
DR Ensembl; ENST00000343709.7; ENSP00000343221.3; ENSG00000214954.8. [Q6ZNQ3-2]
DR Ensembl; ENST00000448384.2; ENSP00000400803.2; ENSG00000214954.8. [Q6ZNQ3-1]
DR GeneID; 100130742; -.
DR KEGG; hsa:100130742; -.
DR MANE-Select; ENST00000448384.3; ENSP00000400803.2; NM_001129890.2; NP_001123362.1.
DR UCSC; uc003yev.2; human. [Q6ZNQ3-1]
DR CTD; 100130742; -.
DR DisGeNET; 100130742; -.
DR GeneCards; LRRC69; -.
DR HGNC; HGNC:34303; LRRC69.
DR HPA; ENSG00000214954; Tissue enhanced (testis).
DR neXtProt; NX_Q6ZNQ3; -.
DR PharmGKB; PA162394619; -.
DR VEuPathDB; HostDB:ENSG00000214954; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000164066; -.
DR HOGENOM; CLU_101819_0_0_1; -.
DR InParanoid; Q6ZNQ3; -.
DR OMA; TWLECVK; -.
DR OrthoDB; 713821at2759; -.
DR PhylomeDB; Q6ZNQ3; -.
DR TreeFam; TF327010; -.
DR PathwayCommons; Q6ZNQ3; -.
DR SignaLink; Q6ZNQ3; -.
DR BioGRID-ORCS; 100130742; 5 hits in 245 CRISPR screens.
DR ChiTaRS; LRRC69; human.
DR Pharos; Q6ZNQ3; Tdark.
DR PRO; PR:Q6ZNQ3; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q6ZNQ3; protein.
DR Bgee; ENSG00000214954; Expressed in calcaneal tendon and 91 other tissues.
DR ExpressionAtlas; Q6ZNQ3; baseline and differential.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 2.
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; 7.
DR PROSITE; PS51450; LRR; 8.
PE 2: Evidence at transcript level;
KW Alternative splicing; Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..347
FT /note="Leucine-rich repeat-containing protein 69"
FT /id="PRO_0000336072"
FT REPEAT 38..60
FT /note="LRR 1"
FT REPEAT 61..82
FT /note="LRR 2"
FT REPEAT 84..105
FT /note="LRR 3"
FT REPEAT 108..129
FT /note="LRR 4"
FT REPEAT 131..153
FT /note="LRR 5"
FT REPEAT 154..175
FT /note="LRR 6"
FT REPEAT 177..199
FT /note="LRR 7"
FT REPEAT 200..222
FT /note="LRR 8"
FT VAR_SEQ 62..217
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033810"
FT VARIANT 64
FT /note="T -> I (in dbSNP:rs11785003)"
FT /id="VAR_043481"
SQ SEQUENCE 347 AA; 39592 MW; E17CCDA84C9AFC84 CRC64;
MTERLLIKAL SGGKNTKIIT LNGKKMTKMP SALGKLPGLK TLVLQNNLIP KVCPELCNLT
QLTTLNLGNN LLEEVPEEMK YLTSLKNLHL SGNRICRFAP GACDGLQNLI LLNLNNNHLT
QLPQEVSRLK SLTYMSINYN QLASIPRELC FLENLVELQL NYNQLICIPE EIKFLKKLQK
LLLARNNIGV LPEELCDLKK LRILDIAGNI IQIFPSGFQD LKLREFYCEG NPLFLQQPVI
STQQENVWSL QEITSRFVMN QLAENNPFLM DDIERYPQVR SMISQGKTCA ICGQYFITVW
LECVRFVPPP KDWKISKNLK LVPLQVLICS YKCFTQRDPN LFGIAQV