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

    Gene ID: 3671, updated on 2-Nov-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, Nov 2024]
    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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    See ISLR in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74173710..74176871)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72039630..72042791)
    RS_2024_09 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 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. Meflin is a marker of pancreatic stellate cells involved in fibrosis and epithelial regeneration in the pancreas. Ando R, et al. J Pathol, 2024 Jan. PMID 37796386
    3. The Balance of Stromal BMP Signaling Mediated by GREM1 and ISLR Drives Colorectal Carcinogenesis. Kobayashi H, et al. Gastroenterology, 2021 Mar. PMID 33197448
    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. Cancer-associated fibroblasts that restrain cancer progression: Hypotheses and perspectives. Miyai Y, et al. Cancer Sci, 2020 Apr. PMID 32060987, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Immunoglobulin Superfamily Containing Leucine-Rich Repeat (ISLR) Serves as a Redox Sensor That Modulates Antioxidant Capacity by Suppressing Pyruvate Kinase Isozyme M2 Activity.
      Title: Immunoglobulin Superfamily Containing Leucine-Rich Repeat (ISLR) Serves as a Redox Sensor That Modulates Antioxidant Capacity by Suppressing Pyruvate Kinase Isozyme M2 Activity.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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