APOBR apolipoprotein B receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOBRprovided by HGNC
Official Full Name: apolipoprotein B receptorprovided by HGNC
Primary source: HGNC:HGNC:24087
See related: Ensembl:ENSG00000184730 MIM:605220; AllianceGenome:HGNC:24087
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: APOB48R; APOB100R
Summary: Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]
Expression: Biased expression in colon (RPKM 19.1), spleen (RPKM 14.5) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (28494643..28498964)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (28896813..28901107, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (28505964..28510285)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the findings reported here demonstrated that patients with mutations in FASN (c.G7192T, p.A2398S) and APOBR (c.C1883G, p.T628R) may be predisposed to hypothyroidism. These mutations may disrupt the regulation of fatty acid biosynthesis and lipid metabolism. These findings may reveal the high degree of genetic heterogeneity in hypothyroidism phenotypes.
Title: A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations.
The obesity risk alleles of non-synonymous SNPs at SH2B1 and APOB48R have no strong effect on weight loss-related phenotypes in overweight children after a 1-year lifestyle intervention.
Title: Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese children and adolescents undergoing a 1-year lifestyle intervention.
These findings suggest that APOB48R represents a molecular target of postprandial lipoproteins via PPAR-dependent pathways in human monocytes and macrophages and advance an important link between postprandial metabolism of dietary fats and atherogenesis.
Title: Triglyceride-rich lipoprotein regulates APOB48 receptor gene expression in human THP-1 monocytes and macrophages.
investigation of apoB48R gene transcription in circulating monocytes: increase in apoB48R gene transcription following high-fat meal
Title: A high-fat meal promotes lipid-load and apolipoprotein B-48 receptor transcriptional activity in circulating monocytes.
Atherogenic remnant lipoproteins induced macrophage foam cell formation via apoB48R, indicating a potential role of apoB48R in atherosclerosis.
Title: Pitavastatin inhibits remnant lipoprotein-induced macrophage foam cell formation through ApoB48 receptor-dependent mechanism.
Nucleotide variations in the apolipoprotein B48 receptor gene is associated with hypercholesterolemia
Title: Association of nucleotide variations in the apolipoprotein B48 receptor gene (APOB48R) with hypercholesterolemia.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables very-low-density lipoprotein particle receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chylomicron	IEA Inferred from Electronic Annotation more info
part_of low-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of very-low-density lipoprotein particle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: apolipoprotein B receptor

Names: apoB-48R; apolipoprotein B-100 receptor; apolipoprotein B-48 receptor; apolipoprotein B100 receptor; apolipoprotein B48 receptor

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.

mRNA and Protein(s)

NM_001424171.1 → NP_001411100.1 apolipoprotein B receptor isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) is annotated on the T2T genome and contains 8 copies of a 27 nt repeat and encodes isoform 2.

Source sequence(s)

CP068262
NM_018690.4 → NP_061160.3 apolipoprotein B receptor isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is annotated on the GRCh38 reference genome and contains 9 copies of a 27 nt repeat and encodes isoform 1.

Source sequence(s)

AC138894

Consensus CDS

CCDS58442.1

UniProtKB/Swiss-Prot

H3BU97, Q0VD81, Q0VD83, Q8NC15, Q9NPJ9

UniProtKB/TrEMBL

Q9NS13

Related

ENSP00000457539.1, ENST00000564831.6

Conserved Domains (2) summary

PTZ00121
Location:111 → 669

PTZ00121; MAEBL; Provisional

TIGR00927
Location:108 → 362

2A1904; K+-dependent Na+/Ca+ exchanger