LRC17_HUMAN
ID LRC17_HUMAN Reviewed; 441 AA.
AC Q8N6Y2; Q13288; Q6UWA7; Q75MG5;
DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Leucine-rich repeat-containing protein 17;
DE AltName: Full=p37NB;
DE Flags: Precursor;
GN Name=LRRC17; Synonyms=P37NB; ORFNames=UNQ3076/PRO9909;
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 2), TISSUE SPECIFICITY, AND VARIANT
RP ALA-187.
RX PubMed=8982252; DOI=10.1016/s0167-4781(96)00158-3;
RA Kim D., LaQuaglia M.P., Yang S.Y.;
RT "A cDNA encoding a putative 37 kDa leucine-rich repeat (LRR) protein,
RT p37NB, isolated from S-type neuroblastoma cell has a differential tissue
RT distribution.";
RL Biochim. Biophys. Acta 1309:183-188(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 2).
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
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 [5]
RP TISSUE SPECIFICITY.
RX PubMed=19336404; DOI=10.1074/jbc.m807722200;
RA Kim T., Kim K., Lee S.H., So H.-S., Lee J., Kim N., Choi Y.;
RT "Identification of LRRc17 as a negative regulator of receptor activator of
RT NF-kappaB ligand (RANKL)-induced osteoclast differentiation.";
RL J. Biol. Chem. 284:15308-15316(2009).
CC -!- FUNCTION: Involved in bone homeostasis. Acts as a negative regulator of
CC RANKL-induced osteoclast precursor differentiation from bone marrow
CC precursors (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N6Y2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N6Y2-2; Sequence=VSP_011424, VSP_011425;
CC -!- TISSUE SPECIFICITY: Expressed in osteoblast cell lines. Well expressed
CC in ovary, heart, pancreas, skeletal muscle, lung, and fetal kidney and
CC lung and only at the basal levels in the other tissues examined
CC including adult kidney. More expressed in S-type neuroblastoma cells
CC than in N-type neuroblastoma cells. {ECO:0000269|PubMed:19336404,
CC ECO:0000269|PubMed:8982252}.
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DR EMBL; U32907; AAB41565.1; -; mRNA.
DR EMBL; AY358889; AAQ89248.1; -; mRNA.
DR EMBL; AC073127; AAS07483.1; -; Genomic_DNA.
DR EMBL; BC027903; AAH27903.1; -; mRNA.
DR CCDS; CCDS34721.1; -. [Q8N6Y2-1]
DR CCDS; CCDS5727.1; -. [Q8N6Y2-2]
DR PIR; G02020; G02020.
DR RefSeq; NP_001026862.1; NM_001031692.2. [Q8N6Y2-1]
DR RefSeq; NP_005815.2; NM_005824.2. [Q8N6Y2-2]
DR RefSeq; XP_005250165.1; XM_005250108.1. [Q8N6Y2-1]
DR AlphaFoldDB; Q8N6Y2; -.
DR SMR; Q8N6Y2; -.
DR BioGRID; 115528; 22.
DR IntAct; Q8N6Y2; 1.
DR STRING; 9606.ENSP00000344242; -.
DR GlyGen; Q8N6Y2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N6Y2; -.
DR PhosphoSitePlus; Q8N6Y2; -.
DR BioMuta; LRRC17; -.
DR DMDM; 51701682; -.
DR jPOST; Q8N6Y2; -.
DR MassIVE; Q8N6Y2; -.
DR MaxQB; Q8N6Y2; -.
DR PaxDb; Q8N6Y2; -.
DR PeptideAtlas; Q8N6Y2; -.
DR PRIDE; Q8N6Y2; -.
DR ProteomicsDB; 72249; -. [Q8N6Y2-1]
DR ProteomicsDB; 72250; -. [Q8N6Y2-2]
DR Antibodypedia; 31152; 54 antibodies from 16 providers.
DR DNASU; 10234; -.
DR Ensembl; ENST00000249377.4; ENSP00000249377.4; ENSG00000128606.13. [Q8N6Y2-2]
DR Ensembl; ENST00000339431.9; ENSP00000344242.4; ENSG00000128606.13. [Q8N6Y2-1]
DR GeneID; 10234; -.
DR KEGG; hsa:10234; -.
DR MANE-Select; ENST00000339431.9; ENSP00000344242.4; NM_001031692.3; NP_001026862.1.
DR UCSC; uc003vat.4; human. [Q8N6Y2-1]
DR CTD; 10234; -.
DR DisGeNET; 10234; -.
DR GeneCards; LRRC17; -.
DR HGNC; HGNC:16895; LRRC17.
DR HPA; ENSG00000128606; Tissue enhanced (ovary).
DR MIM; 618749; gene.
DR neXtProt; NX_Q8N6Y2; -.
DR OpenTargets; ENSG00000128606; -.
DR PharmGKB; PA134866295; -.
DR VEuPathDB; HostDB:ENSG00000128606; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000156400; -.
DR HOGENOM; CLU_049990_0_0_1; -.
DR InParanoid; Q8N6Y2; -.
DR OMA; FRGWRVE; -.
DR OrthoDB; 282791at2759; -.
DR PhylomeDB; Q8N6Y2; -.
DR PathwayCommons; Q8N6Y2; -.
DR BioGRID-ORCS; 10234; 13 hits in 1061 CRISPR screens.
DR ChiTaRS; LRRC17; human.
DR GeneWiki; LRRC17; -.
DR GenomeRNAi; 10234; -.
DR Pharos; Q8N6Y2; Tdark.
DR PRO; PR:Q8N6Y2; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N6Y2; protein.
DR Bgee; ENSG00000128606; Expressed in secondary oocyte and 163 other tissues.
DR ExpressionAtlas; Q8N6Y2; baseline and differential.
DR Genevisible; Q8N6Y2; HS.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; ISS:UniProtKB.
DR GO; GO:0048539; P:bone marrow development; ISS:UniProtKB.
DR GO; GO:0045671; P:negative regulation of osteoclast differentiation; ISS:UniProtKB.
DR GO; GO:0001503; P:ossification; IEA:UniProtKB-KW.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
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; 2.
DR SMART; SM00369; LRR_TYP; 6.
DR SMART; SM00082; LRRCT; 2.
DR PROSITE; PS51450; LRR; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; Leucine-rich repeat; Osteogenesis;
KW Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..441
FT /note="Leucine-rich repeat-containing protein 17"
FT /id="PRO_0000021608"
FT REPEAT 82..103
FT /note="LRR 1"
FT REPEAT 106..127
FT /note="LRR 2"
FT REPEAT 130..151
FT /note="LRR 3"
FT DOMAIN 163..214
FT /note="LRRCT 1"
FT DOMAIN 225..268
FT /note="LRRNT"
FT REPEAT 269..290
FT /note="LRR 4"
FT REPEAT 293..314
FT /note="LRR 5"
FT REPEAT 317..340
FT /note="LRR 6"
FT DOMAIN 350..402
FT /note="LRRCT 2"
FT VAR_SEQ 310..313
FT /note="AAFL -> GSLR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:8982252"
FT /id="VSP_011424"
FT VAR_SEQ 314..441
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:8982252"
FT /id="VSP_011425"
FT VARIANT 95
FT /note="T -> I (in dbSNP:rs34613342)"
FT /id="VAR_051103"
FT VARIANT 119
FT /note="K -> E (in dbSNP:rs3800939)"
FT /id="VAR_051104"
FT VARIANT 187
FT /note="G -> A (in dbSNP:rs1057066)"
FT /evidence="ECO:0000269|PubMed:8982252"
FT /id="VAR_051105"
FT CONFLICT 214
FT /note="Missing (in Ref. 2; AAQ89248)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 441 AA; 51800 MW; F629666C807A4254 CRC64;
MRVVTIVILL CFCKAAELRK ASPGSVRSRV NHGRAGGGRR GSNPVKRYAP GLPCDVYTYL
HEKYLDCQER KLVYVLPGWP QDLLHMLLAR NKIRTLKNNM FSKFKKLKSL DLQQNEISKI
ESEAFFGLNK LTTLLLQHNQ IKVLTEEVFI YTPLLSYLRL YDNPWHCTCE IETLISMLQI
PRNRNLGNYA KCESPQEQKN KKLRQIKSEQ LCNEEEKEQL DPKPQVSGRP PVIKPEVDST
FCHNYVFPIQ TLDCKRKELK KVPNNIPPDI VKLDLSYNKI NQLRPKEFED VHELKKLNLS
SNGIEFIDPA AFLGLTHLEE LDLSNNSLQN FDYGVLEDLY FLKLLWLRDN PWRCDYNIHY
LYYWLKHHYN VHFNGLECKT PEEYKGWSVG KYIRSYYEEC PKDKLPAYPE SFDQDTEDDE
WEKKHRDHTA KKQSVIITIV G
