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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

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