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    LRP1B LDL receptor related protein 1B [ Homo sapiens (human) ]

    Gene ID: 53353, updated on 17-Jan-2022

    Summary

    Official Symbol
    LRP1Bprovided by HGNC
    Official Full Name
    LDL receptor related protein 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:6693
    See related
    Ensembl:ENSG00000168702 MIM:608766
    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
    LRP-1B; LRPDIT; LRP-DIT
    Summary
    This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]
    Expression
    Biased expression in brain (RPKM 3.0), thyroid (RPKM 1.8) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LRP1B in Genome Data Viewer
    Location:
    2q22.1-q22.2
    Exon count:
    92
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (140231423..142132463, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (140988992..142888585, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MT-ND2 pseudogene 19 Neighboring gene MT-ND1 pseudogene 27 Neighboring gene microRNA 7157 Neighboring gene COPRS pseudogene 1 Neighboring gene LRRC57 pseudogene 1 Neighboring gene RNA, U6 small nuclear 904, pseudogene Neighboring gene ribosomal protein S16 pseudogene 3 Neighboring gene uncharacterized LOC105373649 Neighboring gene uncharacterized LOC107985779 Neighboring gene uncharacterized LOC105373648 Neighboring gene uncharacterized LOC105373651 Neighboring gene UBE2V1 pseudogene 14

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis.
    GeneReviews: Not available
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    GeneReviews: Not available
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    GeneReviews: Not available
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    GeneReviews: Not available
    Genome-wide association study of chronic periodontitis in a general German population.
    GeneReviews: Not available
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    GeneReviews: Not available
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    GeneReviews: Not available
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    GeneReviews: Not available
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables low-density lipoprotein particle receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    low-density lipoprotein receptor-related protein 1B
    Names
    LRP-deleted in tumors
    low density lipoprotein receptor related protein-deleted in tumor
    low density lipoprotein receptor-related protein 1B
    low density lipoprotein-related protein 1B (deleted in tumors)

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_051023.1 RefSeqGene

      Range
      6448..1906041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018557.3NP_061027.2  low-density lipoprotein receptor-related protein 1B precursor

      See identical proteins and their annotated locations for NP_061027.2

      Status: REVIEWED

      Source sequence(s)
      AC010740, AC012353, AC068195, AC068287, AC073319, AC087056, AC092156, AC092575, AC093039, AC108036, AC110087, AC117947
      Consensus CDS
      CCDS2182.1
      UniProtKB/Swiss-Prot
      Q9NZR2
      Related
      ENSP00000374135.3, ENST00000389484.8
      Conserved Domains (9) summary
      smart00192
      Location:926958
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:19471987
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:29682998
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:34763510
      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 ...
      cd05819
      Location:285321
      NHL; NHL repeat [structural motif]
      pfam00058
      Location:20082048
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam12662
      Location:29482971
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:32773313
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:282459
      NHL; NHL repeat unit of beta-propeller proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      140231423..142132463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004341.1XP_016859830.1  low-density lipoprotein receptor-related protein 1B isoform X1

    2. XM_017004342.1XP_016859831.1  low-density lipoprotein receptor-related protein 1B isoform X2

    RNA

    1. XR_001738778.1 RNA Sequence

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