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

Gene ID: 53353, updated on 7-Jun-2020

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

Genomic context

See LRP1B in Genome Data Viewer
Location:
2q22.1-q22.2
Exon count:
92
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (140231423..142132463, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (140988996..142889270, 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein transport TAS
Traceable Author Statement
more info
PubMed 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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.

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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