ID   ISLR_HUMAN              Reviewed;         428 AA.
AC   O14498;
DT   04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-JAN-1998, sequence version 1.
DT   03-AUG-2022, entry version 173.
DE   RecName: Full=Immunoglobulin superfamily containing leucine-rich repeat protein;
DE   Flags: Precursor;
GN   Name=ISLR; ORFNames=UNQ189/PRO215;
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], TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC   TISSUE=Retina;
RX   PubMed=9325048; DOI=10.1006/geno.1997.4889;
RA   Nagasawa A., Kubota R., Imamura Y., Nagamine K., Wang Y., Asakawa S.,
RA   Kudoh J., Minoshima S., Mashima Y., Oguchi Y., Shimizu N.;
RT   "Cloning of the cDNA for a new member of the immunoglobulin superfamily
RT   (ISLR) containing leucine-rich repeat (LRR).";
RL   Genomics 44:273-279(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC   TISSUE=Retina;
RX   PubMed=10512678; DOI=10.1006/geno.1999.5934;
RA   Nagasawa A., Kudoh J., Noda S., Mashima Y., Wright A., Oguchi Y.,
RA   Shimizu N.;
RT   "Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich
RT   repeat) genes: genomic structure and tissue expression.";
RL   Genomics 61:37-43(1999).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   [4]
RP   VARIANT [LARGE SCALE ANALYSIS] ASN-183.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Expressed in various tissues including retina,
CC       heart, skeletal muscle, prostate, ovary, small intestine, thyroid,
CC       adrenal cortex, testis, stomach and spinal cord.
CC       {ECO:0000269|PubMed:10512678, ECO:0000269|PubMed:9325048}.
CC   -!- DEVELOPMENTAL STAGE: Expressed in fetal lung and kidney.
CC       {ECO:0000269|PubMed:9325048}.
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DR   EMBL; AB003184; BAA22848.1; -; mRNA.
DR   EMBL; AB024536; BAA85970.1; -; mRNA.
DR   EMBL; AB024537; BAA85971.1; -; Genomic_DNA.
DR   EMBL; AY358871; AAQ89230.1; -; mRNA.
DR   CCDS; CCDS10260.1; -.
DR   RefSeq; NP_005536.1; NM_005545.3.
DR   RefSeq; NP_958934.1; NM_201526.1.
DR   AlphaFoldDB; O14498; -.
DR   SMR; O14498; -.
DR   BioGRID; 109878; 165.
DR   IntAct; O14498; 40.
DR   MINT; O14498; -.
DR   STRING; 9606.ENSP00000249842; -.
DR   GlyConnect; 1391; 5 N-Linked glycans (2 sites).
DR   GlyGen; O14498; 5 sites, 4 N-linked glycans (2 sites), 1 O-linked glycan (2 sites).
DR   PhosphoSitePlus; O14498; -.
DR   BioMuta; ISLR; -.
DR   jPOST; O14498; -.
DR   MassIVE; O14498; -.
DR   PaxDb; O14498; -.
DR   PeptideAtlas; O14498; -.
DR   PRIDE; O14498; -.
DR   ProteomicsDB; 48044; -.
DR   Antibodypedia; 55140; 112 antibodies from 14 providers.
DR   DNASU; 3671; -.
DR   Ensembl; ENST00000249842.8; ENSP00000249842.3; ENSG00000129009.13.
DR   Ensembl; ENST00000395118.1; ENSP00000378550.1; ENSG00000129009.13.
DR   Ensembl; ENST00000671810.1; ENSP00000499984.1; ENSG00000288508.1.
DR   Ensembl; ENST00000672683.1; ENSP00000500029.1; ENSG00000288508.1.
DR   GeneID; 3671; -.
DR   KEGG; hsa:3671; -.
DR   MANE-Select; ENST00000249842.8; ENSP00000249842.3; NM_005545.4; NP_005536.1.
DR   UCSC; uc002axg.2; human.
DR   CTD; 3671; -.
DR   DisGeNET; 3671; -.
DR   GeneCards; ISLR; -.
DR   HGNC; HGNC:6133; ISLR.
DR   HPA; ENSG00000129009; Tissue enhanced (cervix).
DR   MIM; 602059; gene.
DR   neXtProt; NX_O14498; -.
DR   OpenTargets; ENSG00000129009; -.
DR   PharmGKB; PA29933; -.
DR   VEuPathDB; HostDB:ENSG00000129009; -.
DR   eggNOG; KOG0619; Eukaryota.
DR   GeneTree; ENSGT00940000160967; -.
DR   HOGENOM; CLU_658828_0_0_1; -.
DR   InParanoid; O14498; -.
DR   OMA; QERFLVF; -.
DR   OrthoDB; 282791at2759; -.
DR   PhylomeDB; O14498; -.
DR   TreeFam; TF351112; -.
DR   PathwayCommons; O14498; -.
DR   Reactome; R-HSA-114608; Platelet degranulation.
DR   SignaLink; O14498; -.
DR   BioGRID-ORCS; 3671; 12 hits in 1056 CRISPR screens.
DR   ChiTaRS; ISLR; human.
DR   GenomeRNAi; 3671; -.
DR   Pharos; O14498; Tbio.
DR   PRO; PR:O14498; -.
DR   Proteomes; UP000005640; Chromosome 15.
DR   RNAct; O14498; protein.
DR   Bgee; ENSG00000129009; Expressed in calcaneal tendon and 102 other tissues.
DR   ExpressionAtlas; O14498; baseline and differential.
DR   Genevisible; O14498; HS.
DR   GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR   GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR   GO; GO:0031093; C:platelet alpha granule lumen; TAS:Reactome.
DR   GO; GO:0007155; P:cell adhesion; TAS:ProtInc.
DR   Gene3D; 2.60.40.10; -; 1.
DR   Gene3D; 3.80.10.10; -; 1.
DR   InterPro; IPR000483; Cys-rich_flank_reg_C.
DR   InterPro; IPR007110; Ig-like_dom.
DR   InterPro; IPR036179; Ig-like_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR013098; Ig_I-set.
DR   InterPro; IPR003598; Ig_sub2.
DR   InterPro; IPR001611; Leu-rich_rpt.
DR   InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR   InterPro; IPR032675; LRR_dom_sf.
DR   Pfam; PF07679; I-set; 1.
DR   Pfam; PF13855; LRR_8; 2.
DR   SMART; SM00408; IGc2; 1.
DR   SMART; SM00369; LRR_TYP; 5.
DR   SMART; SM00082; LRRCT; 1.
DR   SUPFAM; SSF48726; SSF48726; 1.
DR   PROSITE; PS50835; IG_LIKE; 1.
DR   PROSITE; PS51450; LRR; 5.
PE   2: Evidence at transcript level;
KW   Disulfide bond; Glycoprotein; Immunoglobulin domain; Leucine-rich repeat;
KW   Reference proteome; Repeat; Secreted; Signal.
FT   SIGNAL          1..18
FT                   /evidence="ECO:0000255"
FT   CHAIN           19..428
FT                   /note="Immunoglobulin superfamily containing leucine-rich
FT                   repeat protein"
FT                   /id="PRO_0000312208"
FT   DOMAIN          19..50
FT                   /note="LRRNT"
FT   REPEAT          51..72
FT                   /note="LRR 1"
FT   REPEAT          75..96
FT                   /note="LRR 2"
FT   REPEAT          99..122
FT                   /note="LRR 3"
FT   REPEAT          123..144
FT                   /note="LRR 4"
FT   REPEAT          147..168
FT                   /note="LRR 5"
FT   DOMAIN          180..231
FT                   /note="LRRCT"
FT   DOMAIN          232..343
FT                   /note="Ig-like"
FT   CARBOHYD        51
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        309
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        257..327
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   VARIANT         183
FT                   /note="D -> N (in a colorectal cancer sample; somatic
FT                   mutation; dbSNP:rs376998994)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_037454"
SQ   SEQUENCE   428 AA;  45997 MW;  3163F89D59F6F3A4 CRC64;
     MQELHLLWWA LLLGLAQACP EPCDCGEKYG FQIADCAYRD LESVPPGFPA NVTTLSLSAN
     RLPGLPEGAF REVPLLQSLW LAHNEIRTVA AGALASLSHL KSLDLSHNLI SDFAWSDLHN
     LSALQLLKMD SNELTFIPRD AFRSLRALRS LQLNHNRLHT LAEGTFTPLT ALSHLQINEN
     PFDCTCGIVW LKTWALTTAV SIPEQDNIAC TSPHVLKGTP LSRLPPLPCS APSVQLSYQP
     SQDGAELRPG FVLALHCDVD GQPAPQLHWH IQIPSGIVEI TSPNVGTDGR ALPGTPVASS
     QPRFQAFANG SLLIPDFGKL EEGTYSCLAT NELGSAESSV DVALATPGEG GEDTLGRRFH
     GKAVEGKGCY TVDNEVQPSG PEDNVVIIYL SRAGNPEAAV AEGVPGQLPP GLLLLGQSLL
     LFFFLTSF