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    LRP10 LDL receptor related protein 10 [ Homo sapiens (human) ]

    Gene ID: 26020, updated on 10-Mar-2024

    Summary

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    Official Symbol
    LRP10provided by HGNC
    Official Full Name
    LDL receptor related protein 10provided by HGNC
    Primary source
    HGNC:HGNC:14553
    See related
    Ensembl:ENSG00000197324 MIM:609921; AllianceGenome:HGNC:14553
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LRP9; LRP-10; MST087; MSTP087
    Summary
    This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in esophagus (RPKM 34.1), colon (RPKM 29.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22871740..22881713)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17069798..17079771)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23340949..23350922)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23305452-23305668 Neighboring gene mitochondrial ribosomal protein L52 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312200-23312700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312701-23313201 Neighboring gene matrix metallopeptidase 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23314693-23315218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23315743-23316266 Neighboring gene Sharpr-MPRA regulatory region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352144-23352682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352683-23353220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8149 Neighboring gene RRAD and GEM like GTPase 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23368929-23369666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8150 Neighboring gene RNA binding motif protein 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23386410-23387174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8153

    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. Genetic analysis of the LRP10 gene in Chinese patients with Parkinson's disease. Song N, et al. Neurol Sci, 2023 Mar. PMID 36434476
    2. Role of LRP10 in Parkinson's disease in a Taiwanese cohort. Liao TW, et al. Parkinsonism Relat Disord, 2021 Aug. PMID 34246039
    3. Screening of LRP10 mutations in Parkinson's disease patients from Italy. Manini A, et al. Parkinsonism Relat Disord, 2021 Aug. PMID 34216936
    4. LRP10 Mutations May Correlate with Sporadic Parkinson's Disease in China. Zhao Q, et al. Mol Neurobiol, 2021 Mar. PMID 33118139
    5. Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort. Li C, et al. Neurobiol Aging, 2021 Mar. PMID 32950273

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LRP10 and alpha-synuclein transmission in Lewy body diseases.
      Title: LRP10 and α-synuclein transmission in Lewy body diseases.
    2. Genetic analysis of the LRP10 gene in Chinese patients with Parkinson's disease.
      Title: Genetic analysis of the LRP10 gene in Chinese patients with Parkinson's disease.
    3. Role of LRP10 in Parkinson's disease in a Taiwanese cohort.
      Title: Role of LRP10 in Parkinson's disease in a Taiwanese cohort.
    4. Screening of LRP10 mutations in Parkinson's disease patients from Italy.
      Title: Screening of LRP10 mutations in Parkinson's disease patients from Italy.
    5. LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
      Title: LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
    6. LRP10 Mutations May Correlate with Sporadic Parkinson's Disease in China.
      Title: LRP10 Mutations May Correlate with Sporadic Parkinson's Disease in China.
    7. Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort.
      Title: Mutation analysis of LRP10 in a large Chinese familial Parkinson disease cohort.
    8. Rare, pathogenic variants in LRP10 are associated with amyotrophic lateral sclerosis in patients from mainland China.
      Title: Rare, pathogenic variants in LRP10 are associated with amyotrophic lateral sclerosis in patients from mainland China.
    9. LRP10 variants in progressive supranuclear palsy.
      Title: LRP10 variants in progressive supranuclear palsy.
    10. Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia.
      Title: Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    • MGC8675, MGC142274, MGC142276, DKFZp564C1940

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables low-density lipoprotein particle receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    low-density lipoprotein receptor-related protein 10

    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.

    Genomic

    1. NG_051090.1 RefSeqGene

      Range
      5128..15101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329226.2 → NP_001316155.1  low-density lipoprotein receptor-related protein 10 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL135998, AW009640
      Consensus CDS
      CCDS86372.1
      UniProtKB/TrEMBL
      H0YHW7
      Related
      ENSP00000447559.1, ENST00000546834.5

    2. NM_014045.5 → NP_054764.2  low-density lipoprotein receptor-related protein 10 isoform 1 precursor

      See identical proteins and their annotated locations for NP_054764.2

      Status: REVIEWED

      Source sequence(s)
      AI692207, AL135998, AW009640, AY358399, BM846255, BM981286, BM997452, BQ774170
      Consensus CDS
      CCDS9578.1
      UniProtKB/Swiss-Prot
      A8K4R5, D3DS31, O95882, Q14CK7, Q7Z4F1, Q86T02, Q8NCZ4, Q9HC42, Q9UG33
      Related
      ENSP00000352601.4, ENST00000359591.9
      Conserved Domains (3) summary
      PRK04654
      Location:573 → 675
      PRK04654; sec-independent translocase; Provisional
      cd00041
      Location:192 → 302
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:399 → 433
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      22871740..22881713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267510.2 → XP_005267567.1  low-density lipoprotein receptor-related protein 10 isoform X1

      See identical proteins and their annotated locations for XP_005267567.1

      Conserved Domains (3) summary
      PRK04654
      Location:581 → 683
      PRK04654; sec-independent translocase; Provisional
      cd00041
      Location:200 → 310
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:407 → 441
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17069798..17079771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375790.1 → XP_054231765.1  low-density lipoprotein receptor-related protein 10 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4F1.2 GenPept UniProtKB/Swiss-Prot:Q7Z4F1

    Gene LinkOut

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