LRC18_HUMAN
ID LRC18_HUMAN Reviewed; 261 AA.
AC Q8N456; Q6UY02;
DT 27-SEP-2005, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 160.
DE RecName: Full=Leucine-rich repeat-containing protein 18;
GN Name=LRRC18; ORFNames=UNQ9338/PRO34010;
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).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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 -!- FUNCTION: May be involved in the regulation of spermatogenesis and
CC sperm maturation. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8N456; O43559: FRS3; NbExp=3; IntAct=EBI-751373, EBI-725515;
CC Q8N456; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-751373, EBI-16439278;
CC Q8N456; O43167: ZBTB24; NbExp=3; IntAct=EBI-751373, EBI-744471;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N456-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N456-2; Sequence=VSP_015740;
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DR EMBL; AY358137; AAQ88504.1; -; mRNA.
DR EMBL; BC036722; AAH36722.1; -; mRNA.
DR CCDS; CCDS31197.1; -. [Q8N456-1]
DR RefSeq; NP_001006940.3; NM_001006939.3. [Q8N456-1]
DR RefSeq; XP_006717930.1; XM_006717867.2.
DR RefSeq; XP_011538124.1; XM_011539822.1. [Q8N456-1]
DR RefSeq; XP_011538125.1; XM_011539823.1. [Q8N456-1]
DR RefSeq; XP_011538128.1; XM_011539826.2. [Q8N456-1]
DR RefSeq; XP_011538130.1; XM_011539828.2. [Q8N456-1]
DR RefSeq; XP_011538131.1; XM_011539829.2.
DR RefSeq; XP_016871765.1; XM_017016276.1. [Q8N456-1]
DR RefSeq; XP_016871766.1; XM_017016277.1. [Q8N456-1]
DR AlphaFoldDB; Q8N456; -.
DR SMR; Q8N456; -.
DR BioGRID; 138880; 5.
DR IntAct; Q8N456; 8.
DR STRING; 9606.ENSP00000298124; -.
DR iPTMnet; Q8N456; -.
DR PhosphoSitePlus; Q8N456; -.
DR BioMuta; LRRC18; -.
DR DMDM; 116242619; -.
DR MassIVE; Q8N456; -.
DR MaxQB; Q8N456; -.
DR PaxDb; Q8N456; -.
DR PeptideAtlas; Q8N456; -.
DR PRIDE; Q8N456; -.
DR ProteomicsDB; 71886; -. [Q8N456-1]
DR ProteomicsDB; 71887; -. [Q8N456-2]
DR Antibodypedia; 49932; 101 antibodies from 20 providers.
DR DNASU; 474354; -.
DR Ensembl; ENST00000374160.7; ENSP00000363275.3; ENSG00000165383.11. [Q8N456-1]
DR GeneID; 474354; -.
DR KEGG; hsa:474354; -.
DR MANE-Select; ENST00000374160.8; ENSP00000363275.3; NM_001378102.1; NP_001365031.1.
DR UCSC; uc001jhd.4; human. [Q8N456-1]
DR CTD; 474354; -.
DR DisGeNET; 474354; -.
DR GeneCards; LRRC18; -.
DR HGNC; HGNC:23199; LRRC18.
DR HPA; ENSG00000165383; Group enriched (choroid plexus, fallopian tube, testis).
DR MIM; 619002; gene.
DR neXtProt; NX_Q8N456; -.
DR OpenTargets; ENSG00000165383; -.
DR PharmGKB; PA134898691; -.
DR VEuPathDB; HostDB:ENSG00000165383; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000156026; -.
DR HOGENOM; CLU_000288_18_15_1; -.
DR InParanoid; Q8N456; -.
DR OMA; NFPKCIL; -.
DR OrthoDB; 1059633at2759; -.
DR PhylomeDB; Q8N456; -.
DR TreeFam; TF331129; -.
DR PathwayCommons; Q8N456; -.
DR SignaLink; Q8N456; -.
DR BioGRID-ORCS; 474354; 4 hits in 1057 CRISPR screens.
DR GenomeRNAi; 474354; -.
DR Pharos; Q8N456; Tdark.
DR PRO; PR:Q8N456; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8N456; protein.
DR Bgee; ENSG00000165383; Expressed in bronchial epithelial cell and 74 other tissues.
DR Genevisible; Q8N456; 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; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR PROSITE; PS51450; LRR; 5.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Leucine-rich repeat; Reference proteome;
KW Repeat.
FT CHAIN 1..261
FT /note="Leucine-rich repeat-containing protein 18"
FT /id="PRO_0000084472"
FT REPEAT 28..49
FT /note="LRR 1"
FT REPEAT 51..72
FT /note="LRR 2"
FT REPEAT 74..95
FT /note="LRR 3"
FT REPEAT 97..118
FT /note="LRR 4"
FT REPEAT 122..144
FT /note="LRR 5"
FT REPEAT 145..167
FT /note="LRR 6"
FT REPEAT 168..189
FT /note="LRR 7"
FT VAR_SEQ 256..261
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_015740"
FT VARIANT 7
FT /note="G -> V (in dbSNP:rs7094610)"
FT /id="VAR_028161"
FT VARIANT 31
FT /note="R -> H (in dbSNP:rs17772611)"
FT /id="VAR_028162"
FT CONFLICT 137
FT /note="P -> S (in Ref. 2; AAH36722)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 261 AA; 29737 MW; 209F1CFC422B1701 CRC64;
MVKGEKGPKG KKITLKVARN CIKITFDGKK RLDLSKMGIT TFPKCILRLS DMDELDLSRN
LIRKIPDSIS KFQNLRWLDL HSNYIDKLPE SIGQMTSLLY LNVSNNRLTS NGLPVELKQL
KNIRAVNLGL NHLDSVPTTL GALKELHEVG LHDNLLNNIP VSISKLPKLK KLNIKRNPFP
KPGESEIFID SIRRLENLYV VEEKDLCAAC LRKCQNARDN LNRIKNMATT TPRKTIFPNL
ISPNSMAKDS WEDWRIRLTS S