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    LRP5L LDL receptor related protein 5 like (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 91355, updated on 10-Oct-2023

    Summary

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    Official Symbol
    LRP5Lprovided by HGNC
    Official Full Name
    LDL receptor related protein 5 like (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:25323
    See related
    Ensembl:ENSG00000290796 AllianceGenome:HGNC:25323
    Gene type
    pseudo
    RefSeq status
    MODEL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable coreceptor activity. Predicted to be involved in several processes, including animal organ development; cholesterol homeostasis; and osteoblast development. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 1.5), thyroid (RPKM 1.2) and 25 other tissues See more
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    Genomic context

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    Location:
    22q11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25351418..25405408, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25812606..25837158, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda like polypeptide 3, pseudogene Neighboring gene PHF10 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25755899-25756398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25762910-25763736 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25779301-25779807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25781664-25782640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25788119-25789018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25789019-25789917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25794389-25794888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18785 Neighboring gene Sharpr-MPRA regulatory region 13977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13559 Neighboring gene uncharacterized LOC124905095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25826942-25827442 Neighboring gene uncharacterized LOC124905093

    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. The novel mutation P36R in LRP5L contributes to congenital membranous cataract via inhibition of laminin γ1 and c-MAF. Sun L, et al. Graefes Arch Clin Exp Ophthalmol, 2020 Dec. PMID 32789677
    2. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098
    3. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
    4. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The novel mutation P36R in LRP5L contributes to congenital membranous cataract via inhibition of laminin gamma1 and c-MAF.
      Title: The novel mutation P36R in LRP5L contributes to congenital membranous cataract via inhibition of laminin γ1 and c-MAF.
    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 studies and variants in dbVar

    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

    Other Names

    • LRP-5-like
    • low density lipoprotein receptor-related protein 5-like
    • low-density lipoprotein receptor-related protein 5-like protein

    Clone Names

    • DKFZp434O0213

    NCBI Reference Sequences (RefSeq)

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    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      25351418..25405408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_005228030.2 RNA Sequence

      Related
      ENST00000444995.7

    2. XR_007068026.1 RNA Sequence

    3. XR_007068032.1 RNA Sequence

    4. XR_007068027.1 RNA Sequence

    5. XR_007068028.1 RNA Sequence

    6. XR_005228024.2 RNA Sequence

    7. XR_007068030.1 RNA Sequence

    8. XR_007068029.1 RNA Sequence

    9. XR_007068031.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25812606..25837158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007090517.1 RNA Sequence

    2. XR_007090516.1 RNA Sequence

    3. XR_007090515.1 RNA Sequence

    4. XR_007090519.1 RNA Sequence

    5. XR_007090521.1 RNA Sequence

    6. XR_007090518.1 RNA Sequence

    7. XR_007090520.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135772.2: Suppressed sequence

      Description
      NM_001135772.2: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    2. NM_182492.3: Suppressed sequence

      Description
      NM_182492.3: This RefSeq was removed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4QPB2.2 GenPept UniProtKB/Swiss-Prot:A4QPB2

    Gene LinkOut

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

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