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ISLR immunoglobulin superfamily containing leucine rich repeat [ Homo sapiens (human) ]

Gene ID: 3671, updated on 5-Mar-2024

Summary

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Official Symbol
ISLRprovided by HGNC
Official Full Name
immunoglobulin superfamily containing leucine rich repeatprovided by HGNC
Primary source
HGNC:HGNC:6133
See related
Ensembl:ENSG00000129009 MIM:602059; AllianceGenome:HGNC:6133
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Meflin; HsT17563
Summary
Predicted to be involved in cell adhesion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in endometrium (RPKM 88.5), ovary (RPKM 76.4) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
15q24.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74173710..74176871)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72039630..72042791)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74466051..74469212)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene immunoglobulin superfamily containing leucine rich repeat 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74422233-74423142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74423143-74424051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74428171-74428862 Neighboring gene uncharacterized LOC283731 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:74432814-74433345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9743 Neighboring gene uncharacterized LOC124903523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74464796-74465784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74465785-74466772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74466773-74467761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74468869-74469385 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74473477-74474013 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74476518-74477717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74485815-74486316 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74492227-74492862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74492863-74493496 Neighboring gene signaling receptor and transporter of retinol STRA6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74495400-74496033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74497519-74498180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74498181-74498842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74500829-74501490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74504651-74505191 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74510918-74511127 Neighboring gene coiled-coil domain containing 33 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74515727-74516464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74516465-74517202 Neighboring gene uncharacterized LOC105370893 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74524367-74525566

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning of the cDNA for a new member of the immunoglobulin superfamily (ISLR) containing leucine-rich repeat (LRR). Nagasawa A, et al. Genomics, 1997 Sep 15. PMID 9325048
  2. The Balance of Stromal BMP Signaling Mediated by GREM1 and ISLR Drives Colorectal Carcinogenesis. Kobayashi H, et al. Gastroenterology, 2021 Mar. PMID 33197448
  3. Cancer-associated fibroblasts that restrain cancer progression: Hypotheses and perspectives. Miyai Y, et al. Cancer Sci, 2020 Apr. PMID 32060987, Free PMC Article
  4. Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: genomic structure and tissue expression. Nagasawa A, et al. Genomics, 1999 Oct 1. PMID 10512678
  5. Silencing of ISLR inhibits tumour progression and glycolysis by inactivating the IL‑6/JAK/STAT3 pathway in non‑small cell lung cancer. Zhang P, et al. Int J Mol Med, 2021 Dec. PMID 34713300, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Meflin is a marker of pancreatic stellate cells involved in fibrosis and epithelial regeneration in the pancreas.
    Title: Meflin is a marker of pancreatic stellate cells involved in fibrosis and epithelial regeneration in the pancreas.
  2. Silencing of ISLR inhibits tumour progression and glycolysis by inactivating the IL6/JAK/STAT3 pathway in nonsmall cell lung cancer.
    Title: Silencing of ISLR inhibits tumour progression and glycolysis by inactivating the IL‑6/JAK/STAT3 pathway in non‑small cell lung cancer.
  3. The Balance of Stromal BMP Signaling Mediated by GREM1 and ISLR Drives Colorectal Carcinogenesis.
    Title: The Balance of Stromal BMP Signaling Mediated by GREM1 and ISLR Drives Colorectal Carcinogenesis.
  4. Secreted stromal protein ISLR promotes intestinal regeneration by suppressing epithelial Hippo signaling.
    Title: Secreted stromal protein ISLR promotes intestinal regeneration by suppressing epithelial Hippo signaling.
  5. Meflin is expressed by pancreatic stellate cells that are a source of cancer-associated fibroblasts in pancreatic ductal adenocarcinoma. Delivery of a Meflin-expressing lentivirus into the tumor stroma or overexpression of Meflin in CAFs suppressed the growth of xenograft tumors. Meflin deficiency or low expression resulted in straightened stromal collagen fibers, a signature for aggressive tumors, in human PDAC tissues.
    Title: Meflin-Positive Cancer-Associated Fibroblasts Inhibit Pancreatic Carcinogenesis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC102816

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell adhesion TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
immunoglobulin superfamily containing leucine-rich repeat protein
Names
mesenchymal stromal cell- and fibroblast-expressing Linx paralogue

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005545.4 → NP_005536.1  immunoglobulin superfamily containing leucine-rich repeat protein precursor

    See identical proteins and their annotated locations for NP_005536.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB024536, AC023545, BR001380
    Consensus CDS
    CCDS10260.1
    UniProtKB/Swiss-Prot
    O14498
    UniProtKB/TrEMBL
    A0A146E5L3
    Related
    ENSP00000249842.3, ENST00000249842.8
    Conserved Domains (4) summary
    TIGR00864
    Location:153 → 227
    PCC; polycystin cation channel protein
    sd00033
    Location:32 → 51
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:98 → 158
    LRR_8; Leucine rich repeat
    cl28434
    Location:239 → 340
    I-set; Immunoglobulin I-set domain

  2. NM_201526.2 → NP_958934.1  immunoglobulin superfamily containing leucine-rich repeat protein precursor

    See identical proteins and their annotated locations for NP_958934.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB003184, AC023545, BR001380
    Consensus CDS
    CCDS10260.1
    UniProtKB/Swiss-Prot
    O14498
    UniProtKB/TrEMBL
    A0A146E5L3
    Related
    ENSP00000378550.1, ENST00000395118.1
    Conserved Domains (4) summary
    TIGR00864
    Location:153 → 227
    PCC; polycystin cation channel protein
    sd00033
    Location:32 → 51
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:98 → 158
    LRR_8; Leucine rich repeat
    cl28434
    Location:239 → 340
    I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    74173710..74176871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160016.1 Reference GRCh38.p14 PATCHES

    Range
    1135..4296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    72039630..72042791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14498.1 GenPept UniProtKB/Swiss-Prot:O14498

Gene LinkOut

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