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   13-FEB-2019, entry version 157.
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;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP   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
RT   superfamily (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-
RT   rich 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.,
RA   Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA   Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA   Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA   Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA   Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA   Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale
RT   effort to identify novel human secreted and transmembrane proteins: a
RT   bioinformatics 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.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   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   UniGene; Hs.699822; -.
DR   UniGene; Hs.745166; -.
DR   ProteinModelPortal; O14498; -.
DR   SMR; O14498; -.
DR   BioGrid; 109878; 60.
DR   STRING; 9606.ENSP00000249842; -.
DR   GlyConnect; 1391; -.
DR   BioMuta; ISLR; -.
DR   jPOST; O14498; -.
DR   PaxDb; O14498; -.
DR   PeptideAtlas; O14498; -.
DR   PRIDE; O14498; -.
DR   ProteomicsDB; 48044; -.
DR   DNASU; 3671; -.
DR   Ensembl; ENST00000249842; ENSP00000249842; ENSG00000129009.
DR   Ensembl; ENST00000395118; ENSP00000378550; ENSG00000129009.
DR   GeneID; 3671; -.
DR   KEGG; hsa:3671; -.
DR   UCSC; uc002axg.2; human.
DR   CTD; 3671; -.
DR   EuPathDB; HostDB:ENSG00000129009.12; -.
DR   GeneCards; ISLR; -.
DR   HGNC; HGNC:6133; ISLR.
DR   HPA; HPA040326; -.
DR   HPA; HPA050811; -.
DR   MIM; 602059; gene.
DR   neXtProt; NX_O14498; -.
DR   OpenTargets; ENSG00000129009; -.
DR   PharmGKB; PA29933; -.
DR   eggNOG; KOG0619; Eukaryota.
DR   eggNOG; COG4886; LUCA.
DR   GeneTree; ENSGT00940000160967; -.
DR   HOGENOM; HOG000113109; -.
DR   HOVERGEN; HBG100853; -.
DR   InParanoid; O14498; -.
DR   OMA; NEIRTVA; -.
DR   OrthoDB; 282791at2759; -.
DR   PhylomeDB; O14498; -.
DR   TreeFam; TF351112; -.
DR   Reactome; R-HSA-114608; Platelet degranulation.
DR   ChiTaRS; ISLR; human.
DR   GenomeRNAi; 3671; -.
DR   PRO; PR:O14498; -.
DR   Proteomes; UP000005640; Chromosome 15.
DR   Bgee; ENSG00000129009; Expressed in 184 organ(s), highest expression level in endocervix.
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   GO; GO:0002576; P:platelet degranulation; TAS:Reactome.
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   Complete proteome; Disulfide bond; Glycoprotein;
KW   Immunoglobulin domain; Leucine-rich repeat; Polymorphism;
KW   Reference proteome; Repeat; Secreted; Signal.
FT   SIGNAL        1     18       {ECO:0000255}.
FT   CHAIN        19    428       Immunoglobulin superfamily containing
FT                                leucine-rich repeat protein.
FT                                /FTId=PRO_0000312208.
FT   DOMAIN       19     50       LRRNT.
FT   REPEAT       51     72       LRR 1.
FT   REPEAT       75     96       LRR 2.
FT   REPEAT       99    122       LRR 3.
FT   REPEAT      123    144       LRR 4.
FT   REPEAT      147    168       LRR 5.
FT   DOMAIN      180    231       LRRCT.
FT   DOMAIN      232    343       Ig-like.
FT   CARBOHYD     51     51       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    309    309       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    257    327       {ECO:0000255|PROSITE-ProRule:PRU00114}.
FT   VARIANT     183    183       D -> N (in a colorectal cancer sample;
FT                                somatic mutation; dbSNP:rs376998994).
FT                                {ECO:0000269|PubMed:16959974}.
FT                                /FTId=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
//