Human Gene LRP1B (ENST00000389484.8) from GENCODE V44
  Description: Homo sapiens LDL receptor related protein 1B (LRP1B), mRNA. (from RefSeq NM_018557)
RefSeq Summary (NM_018557): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000389484.8
Gencode Gene: ENSG00000168702.18
Transcript (Including UTRs)
   Position: hg38 chr2:140,231,423-142,131,016 Size: 1,899,594 Total Exon Count: 91 Strand: -
Coding Region
   Position: hg38 chr2:140,233,186-142,130,729 Size: 1,897,544 Coding Exon Count: 91 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:140,231,423-142,131,016)mRNA (may differ from genome)Protein (4599 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LRP1B_HUMAN
DESCRIPTION: RecName: Full=Low-density lipoprotein receptor-related protein 1B; Short=LRP-1B; AltName: Full=Low-density lipoprotein receptor-related protein-deleted in tumor; Short=LRP-DIT; Flags: Precursor;
FUNCTION: Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis.
SUBUNIT: Binds LRPAP1, PLAU, PLAT and SERPINE1; binding is followed by internalization and degradation of the ligands.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Expressed in thyroid gland and in salivary gland, as well as in adult and fetal brain.
MISCELLANEOUS: The gene is preferentially inactivated in one histological type of lung cancer (non-small cell lung cancer (NSCLC)). May thus play an important role in tumorigenesis of NSCLCs.
SIMILARITY: Belongs to the LDLR family.
SIMILARITY: Contains 14 EGF-like domains.
SIMILARITY: Contains 32 LDL-receptor class A domains.
SIMILARITY: Contains 36 LDL-receptor class B repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LRP1B
Diseases sorted by gene-association score: mbd5 haploinsufficiency* (200)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.28 RPKM in Brain - Anterior cingulate cortex (BA24)
Total median expression: 29.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.90287-0.324 Picture PostScript Text
3' UTR -364.201763-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011042 - 6-blade_b-propeller_TolB-like
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR009030 - Growth_fac_rcpt
IPR023415 - LDLR_class-A_CS
IPR000033 - LDLR_classB_rpt
IPR002172 - LDrepeatLR_classA_rpt

Pfam Domains:
PF00008 - EGF-like domain
PF07645 - Calcium-binding EGF domain
PF00057 - Low-density lipoprotein receptor domain class A
PF00058 - Low-density lipoprotein receptor repeat class B

ModBase Predicted Comparative 3D Structure on Q9NZR2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding

Biological Process:
GO:0006897 endocytosis
GO:0006898 receptor-mediated endocytosis
GO:0015031 protein transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex


-  Descriptions from all associated GenBank mRNAs
  AF176832 - Homo sapiens low density lipoprotein receptor related protein-deleted in tumor (LRPDIT) mRNA, complete cds.
AK054663 - Homo sapiens cDNA FLJ30101 fis, clone BNGH41000118, highly similar to Homo sapiens low density lipoprotein receptor related protein-deleted in tumor (LRPDIT) mRNA.
BC172897 - Synthetic construct Homo sapiens clone IMAGE:9094473 low density lipoprotein-related protein 1B precursor (LRP1B) gene, partial cds.
AB209707 - Homo sapiens mRNA for low density lipoprotein-related protein 1B variant protein.
BC172899 - Synthetic construct Homo sapiens clone IMAGE:9094475 low density lipoprotein-related protein 1B precursor (LRP1B) gene, partial cds.
BC172898 - Synthetic construct Homo sapiens clone IMAGE:9094474 low density lipoprotein-related protein 1B precursor (LRP1B) gene, partial cds.
JD079308 - Sequence 60332 from Patent EP1572962.
JD240587 - Sequence 221611 from Patent EP1572962.
JD522066 - Sequence 503090 from Patent EP1572962.
JD227445 - Sequence 208469 from Patent EP1572962.
JD047049 - Sequence 28073 from Patent EP1572962.
JD356824 - Sequence 337848 from Patent EP1572962.
JD058563 - Sequence 39587 from Patent EP1572962.
JD506565 - Sequence 487589 from Patent EP1572962.
JD061718 - Sequence 42742 from Patent EP1572962.
JD147294 - Sequence 128318 from Patent EP1572962.
JD200351 - Sequence 181375 from Patent EP1572962.
JD200352 - Sequence 181376 from Patent EP1572962.
JD272536 - Sequence 253560 from Patent EP1572962.
JD490751 - Sequence 471775 from Patent EP1572962.
JD170434 - Sequence 151458 from Patent EP1572962.
JD440615 - Sequence 421639 from Patent EP1572962.
JD464141 - Sequence 445165 from Patent EP1572962.
JD461779 - Sequence 442803 from Patent EP1572962.
JD151877 - Sequence 132901 from Patent EP1572962.
JD211640 - Sequence 192664 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000389484.1, ENST00000389484.2, ENST00000389484.3, ENST00000389484.4, ENST00000389484.5, ENST00000389484.6, ENST00000389484.7, LRP1B_HUMAN, LRPDIT, NM_018557, Q8WY29, Q8WY30, Q8WY31, Q9NZR2, uc002tvj.1, uc002tvj.2, uc002tvj.3
UCSC ID: ENST00000389484.8
RefSeq Accession: NM_018557
Protein: Q9NZR2 (aka LRP1B_HUMAN or LR1B_HUMAN)
CCDS: CCDS2182.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.