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

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; AllianceGenome:HGNC:6693
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q22.1-q22.2

Exon count:: 92

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (140231423..142131016, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (140677183..142576386, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (140988992..142888585, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRP1B-a prognostic marker in tubo-ovarian high-grade serous carcinoma.
Title: LRP1B-a prognostic marker in tubo-ovarian high-grade serous carcinoma.
Loss of LRP1B expression drives acquired chemo and radio-resistance in HPV-positive head and neck cancer.
Title: Loss of LRP1B expression drives acquired chemo and radio-resistance in HPV-positive head and neck cancer.
MicroRNA-196a-5p targeting LRP1B modulates phenotype of thyroid carcinoma cells.
Title: MicroRNA-196a-5p targeting LRP1B modulates phenotype of thyroid carcinoma cells.
Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.
Title: Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.
Integrative analysis of the proteome and transcriptome in gastric cancer identified LRP1B as a potential biomarker.
Title: Integrative analysis of the proteome and transcriptome in gastric cancer identified LRP1B as a potential biomarker.
Analysis of copy number alterations in bladder cancer stem cells revealed a prognostic role of LRP1B.
Title: Analysis of copy number alterations in bladder cancer stem cells revealed a prognostic role of LRP1B.
LRP1B mutation associates with increased tumor mutation burden and inferior prognosis in liver hepatocellular carcinoma.
Title: LRP1B mutation associates with increased tumor mutation burden and inferior prognosis in liver hepatocellular carcinoma.
Downregulation of Low-density lipoprotein receptor-related protein 1B (LRP1B) inhibits the progression of hepatocellular carcinoma cells by activating the endoplasmic reticulum stress signaling pathway.
Title: Downregulation of Low-density lipoprotein receptor-related protein 1B (LRP1B) inhibits the progression of hepatocellular carcinoma cells by activating the endoplasmic reticulum stress signaling pathway.
LRP1B mutation is associated with tumor HPV status and promotes poor disease outcomes with a higher mutation count in HPV-related cervical carcinoma and head & neck squamous cell carcinoma.
Title: LRP1B mutation is associated with tumor HPV status and promotes poor disease outcomes with a higher mutation count in HPV-related cervical carcinoma and head & neck squamous cell carcinoma.
LRP1B Expression Is Correlated With Age and Perineural Invasion in Metastatic Cutaneous Squamous Cell Carcinoma: A Pilot Study.
Title: LRP1B Expression Is Correlated With Age and Perineural Invasion in Metastatic Cutaneous Squamous Cell Carcinoma: A Pilot Study.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D2S127 (e-PCR), detects polymorphism
- UniSTS:46337

RH122023 (e-PCR)
- UniSTS:134659

D2S129 (e-PCR), detects polymorphism
- UniSTS:92684

A009L02 (e-PCR)
- UniSTS:22799

SHGC-143348 (e-PCR)
- UniSTS:183313

SHGC-79647 (e-PCR)
- UniSTS:101404

SHGC-81331 (e-PCR)
- UniSTS:102693

SHGC-83144 (e-PCR)
- UniSTS:96040

SHGC-84451 (e-PCR)
- UniSTS:104747

SHGC-68764 (e-PCR)
- UniSTS:95535

1850 (e-PCR)
- UniSTS:33843

D2S1764 (e-PCR)
- UniSTS:2100

D2S1840 (e-PCR)
- UniSTS:80694

SHGC-78116 (e-PCR)
- UniSTS:101687

G62722 (e-PCR)
- UniSTS:139847

D2S2239 (e-PCR)
- UniSTS:10060

RH92045 (e-PCR)
- UniSTS:84303

RH122951 (e-PCR)
- UniSTS:135248

MARC_12159-29372:1046810869:1 (e-PCR)
- UniSTS:267348

D2S2286 (e-PCR), detects polymorphism
- UniSTS:18005

SHGC-106350 (e-PCR)
- UniSTS:169813

D2S349 (e-PCR), detects polymorphism
- UniSTS:42838

SHGC-1646 (e-PCR)
- UniSTS:89449

RH123926 (e-PCR)
- UniSTS:136301

D13S1153 (e-PCR)
- UniSTS:44663

SHGC-155491 (e-PCR)
- UniSTS:183417

D2S127 (e-PCR), detects polymorphism
- UniSTS:78975

G63035 (e-PCR)
- UniSTS:140160

G63303 (e-PCR)
- UniSTS:140416

D2S129 (e-PCR), detects polymorphism
- UniSTS:2182

G62529 (e-PCR)
- UniSTS:139658

D2S1863 (e-PCR)
- UniSTS:153240

SHGC-62012 (e-PCR)
- UniSTS:41380

RH91786 (e-PCR)
- UniSTS:87464

SHGC-60470 (e-PCR)
- UniSTS:183465

SHGC-16622 (e-PCR)
- UniSTS:79286

GDB:451785 (e-PCR)
- UniSTS:157367

G63512 (e-PCR)
- UniSTS:140474

D2S2053 (e-PCR)
- UniSTS:8139

SHGC-14438 (e-PCR)
- UniSTS:81869

RH122984 (e-PCR)
- UniSTS:135376

G32635 (e-PCR)
- UniSTS:117218

D2S2266 (e-PCR)
- UniSTS:48099

SHGC-107477 (e-PCR)
- UniSTS:183267

D2S1769 (e-PCR)
- UniSTS:61412

D2S2334 (e-PCR), detects polymorphism
- UniSTS:67304

D2S2007 (e-PCR)
- UniSTS:34029

SGC38031 (e-PCR)
- UniSTS:2033

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
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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_051023.1 RefSeqGene

Range

6448..1906041

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018557.3 → NP_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

Q8WY29, Q8WY30, Q8WY31, Q9NZR2

Related

ENSP00000374135.3, ENST00000389484.8

Conserved Domains (9) summary

smart00192
Location:926 → 958

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:1947 → 1987

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:2968 → 2998

EGF_CA; Calcium-binding EGF-like domain

cd00112
Location:3476 → 3510

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:285 → 321

NHL; NHL repeat [structural motif]

pfam00058
Location:2008 → 2048

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam12662
Location:2948 → 2971

cEGF; Complement Clr-like EGF-like

pfam14670
Location:3277 → 3313

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl18310
Location:282 → 459

NHL; NHL repeat unit of beta-propeller proteins

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

140231423..142131016 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004341.2 → XP_016859830.1 low-density lipoprotein receptor-related protein 1B isoform X1
XM_017004342.1 → XP_016859831.1 low-density lipoprotein receptor-related protein 1B isoform X3
XM_047444771.1 → XP_047300727.1 low-density lipoprotein receptor-related protein 1B isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

140677183..142576386 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342572.1 → XP_054198547.1 low-density lipoprotein receptor-related protein 1B isoform X1
XM_054342574.1 → XP_054198549.1 low-density lipoprotein receptor-related protein 1B isoform X3
XM_054342573.1 → XP_054198548.1 low-density lipoprotein receptor-related protein 1B isoform X2