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Aliases for VLDLR Gene

Aliases for VLDLR Gene

  • Very Low Density Lipoprotein Receptor 2 3
  • VLDL Receptor 3 4
  • VLDL-R 3 4
  • VLDLRCH 3
  • CAMRQ1 3
  • CARMQ1 3
  • CHRMQ1 3

External Ids for VLDLR Gene

Previous GeneCards Identifiers for VLDLR Gene

  • GC09P002776
  • GC09P002603
  • GC09P002612

Summaries for VLDLR Gene

Entrez Gene Summary for VLDLR Gene

  • The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]

GeneCards Summary for VLDLR Gene

VLDLR (Very Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with VLDLR include cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 and femoral neuropathy. Among its related pathways are Guidance Cues and Growth Cone Motility and Reelin signaling pathway. GO annotations related to this gene include calcium ion binding and glycoprotein binding. An important paralog of this gene is LRP1B.

UniProtKB/Swiss-Prot for VLDLR Gene

  • Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity).

Gene Wiki entry for VLDLR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VLDLR Gene

Genomics for VLDLR Gene

Regulatory Elements for VLDLR Gene

Genomic Location for VLDLR Gene

Chromosome:
9
Start:
2,621,679 bp from pter
End:
2,660,053 bp from pter
Size:
38,375 bases
Orientation:
Plus strand

Genomic View for VLDLR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VLDLR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VLDLR Gene

Proteins for VLDLR Gene

  • Protein details for VLDLR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98155-VLDLR_HUMAN
    Recommended name:
    Very low-density lipoprotein receptor
    Protein Accession:
    P98155
    Secondary Accessions:
    • B2RMZ7
    • D3DRH6
    • Q5VVF6

    Protein attributes for VLDLR Gene

    Size:
    873 amino acids
    Molecular mass:
    96098 Da
    Quaternary structure:
    • Binds to the extracellular matrix protein Reelin. Interacts with VLDLR. Interacts with SNX17 (By similarity). Interacts with DAB1. Receptor for the minor-group human rhinoviruses (HRVs); binds protein VP1 through the second and third LDL-receptor class A domains. Interacts with PCSK9.

    Three dimensional structures from OCA and Proteopedia for VLDLR Gene

    Alternative splice isoforms for VLDLR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VLDLR Gene

Proteomics data for VLDLR Gene at MOPED

Post-translational modifications for VLDLR Gene

  • Ubiquitinated at Lys-839 by MYLIP leading to degradation.
  • Ubiquitination at Lys 828 and Lys 839
  • Glycosylation at Thr 71, Asn 151, Thr 277, Asn 765, and Asn 781
  • Modification sites at PhosphoSitePlus

Other Protein References for VLDLR Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for VLDLR

No data available for DME Specific Peptides for VLDLR Gene

Domains & Families for VLDLR Gene

Gene Families for VLDLR Gene

Graphical View of Domain Structure for InterPro Entry

P98155

UniProtKB/Swiss-Prot:

VLDLR_HUMAN :
  • Contains 3 EGF-like domains.
  • Contains 6 LDL-receptor class B repeats.
Domain:
  • Contains 3 EGF-like domains.
  • Contains 8 LDL-receptor class A domains.
Similarity:
  • Contains 6 LDL-receptor class B repeats.
genes like me logo Genes that share domains with VLDLR: view

Function for VLDLR Gene

Molecular function for VLDLR Gene

GENATLAS Biochemistry:
very low density lipoprotein/ApoE receptor,containing a CGG repeat in 5utr,(may be a susceptibility gene for late onset senile Alzheimer disease)
UniProtKB/Swiss-Prot Function:
Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity).

Gene Ontology (GO) - Molecular Function for VLDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 10571240
GO:0005041 low-density lipoprotein receptor activity TAS 10380922
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 8083232
GO:0030229 very-low-density lipoprotein particle receptor activity IDA 8083232
genes like me logo Genes that share ontologies with VLDLR: view
genes like me logo Genes that share phenotypes with VLDLR: view

Animal Models for VLDLR Gene

MGI Knock Outs for VLDLR:

Animal Model Products

miRNA for VLDLR Gene

miRTarBase miRNAs that target VLDLR

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VLDLR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for VLDLR Gene

Localization for VLDLR Gene

Subcellular locations from UniProtKB/Swiss-Prot for VLDLR Gene

Membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VLDLR Gene COMPARTMENTS Subcellular localization image for VLDLR gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 2
nucleus 2
lysosome 1

Gene Ontology (GO) - Cellular Components for VLDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space --
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane TAS 10380922
GO:0005905 coated pit IEA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with VLDLR: view

Pathways & Interactions for VLDLR Gene

genes like me logo Genes that share pathways with VLDLR: view

Pathways by source for VLDLR Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for VLDLR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for VLDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001666 response to hypoxia --
GO:0006869 lipid transport IEA --
GO:0006898 receptor-mediated endocytosis IDA 10571240
GO:0007165 signal transduction TAS 10380922
genes like me logo Genes that share ontologies with VLDLR: view

Drugs & Compounds for VLDLR Gene

(4) Drugs for VLDLR Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 672,226
cholesterol Experimental Pharma Agonist 0
serine Nutra 420
tyrosine Nutra 547

(7) Additional Compounds for VLDLR Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
Fatty acid
LIPID
phosphoinositide
Phospholipid
genes like me logo Genes that share compounds with VLDLR: view

Transcripts for VLDLR Gene

Unigene Clusters for VLDLR Gene

Very low density lipoprotein receptor:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VLDLR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VLDLR Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ·
SP1: - - -
SP2: -
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:

ExUns: 16c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for VLDLR Gene

GeneLoc Exon Structure for
VLDLR
ECgene alternative splicing isoforms for
VLDLR

Expression for VLDLR Gene

mRNA expression in normal human tissues for VLDLR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VLDLR Gene

This gene is overexpressed in Ovary (x5.6) and Heart - Left Ventricle (x5.4).

Protein differential expression in normal tissues from HIPED for VLDLR Gene

This gene is overexpressed in Adrenal (33.2) and Testis (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for VLDLR Gene



SOURCE GeneReport for Unigene cluster for VLDLR Gene Hs.370422

mRNA Expression by UniProt/SwissProt for VLDLR Gene

P98155-VLDLR_HUMAN
Tissue specificity: Abundant in heart and skeletal muscle; also ovary and kidney; not in liver
genes like me logo Genes that share expression patterns with VLDLR: view

Protein tissue co-expression partners for VLDLR Gene

Primer Products

In Situ Assay Products

Orthologs for VLDLR Gene

This gene was present in the common ancestor of animals.

Orthologs for VLDLR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VLDLR 35
  • 91.16 (n)
  • 95.15 (a)
VLDLR 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VLDLR 35
  • 91.56 (n)
  • 95.88 (a)
VLDLR 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vldlr 35
  • 90.95 (n)
  • 95.99 (a)
Vldlr 16
Vldlr 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VLDLR 35
  • 99.62 (n)
  • 99.54 (a)
VLDLR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vldlr 35
  • 91.07 (n)
  • 95.99 (a)
oppossum
(Monodelphis domestica)
Mammalia VLDLR 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VLDLR 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves VLDLR 35
  • 79.1 (n)
  • 84.29 (a)
VLDL 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VLDLR 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8622 35
vldlr 35
  • 72.39 (n)
  • 76.28 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.998 35
zebrafish
(Danio rerio)
Actinopterygii vldlr 35
  • 68.57 (n)
  • 71.58 (a)
zgc55792 35
vldlr 36
  • 70 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11520 35
fruit fly
(Drosophila melanogaster)
Insecta CG4861 37
  • 40 (a)
LpR1 35
  • 51.1 (n)
  • 44.85 (a)
LpR1 36
  • 33 (a)
ManyToMany
LpR2 36
  • 33 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002186 35
  • 50.34 (n)
  • 43.13 (a)
worm
(Caenorhabditis elegans)
Secernentea B0244.8 37
  • 37 (a)
R01H2.3 37
  • 38 (a)
T13C2.6 35
  • 50.53 (n)
  • 40.26 (a)
T13C2.6 36
  • 33 (a)
OneToMany
Species with no ortholog for VLDLR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VLDLR Gene

ENSEMBL:
Gene Tree for VLDLR (if available)
TreeFam:
Gene Tree for VLDLR (if available)

Paralogs for VLDLR Gene

Paralogs for VLDLR Gene

(17) SIMAP similar genes for VLDLR Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for VLDLR Gene

genes like me logo Genes that share paralogs with VLDLR: view

Variants for VLDLR Gene

Sequence variations from dbSNP and Humsavar for VLDLR Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs6143 Likely benign, Likely benign 2,645,719(+) TGGGC(C/T)GATCT reference, synonymous-codon
rs6144 -- 2,645,557(+) AACCC(A/T)GACTT intron-variant
rs6145 Likely benign, Likely benign 2,651,962(+) AAGTA(G/T)ATTTC intron-variant
rs6146 - 2,644,802(+) GCTAC(A/G)AGTGT missense, reference
rs6147 -- 2,647,579(+) CCTAA(A/C/T)GGAAT missense, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for VLDLR Gene

Variant ID Type Subtype PubMed ID
nsv892069 CNV Gain 21882294
nsv892070 CNV Gain 21882294
nsv892071 CNV Loss 21882294
nsv892072 CNV Loss 21882294
nsv824819 CNV Gain 20364138
nsv892073 CNV Gain 21882294
nsv527298 CNV Loss 19592680
nsv892074 CNV Loss 21882294
nsv892075 CNV Loss 21882294
nsv892076 CNV Gain 21882294

Variation tolerance for VLDLR Gene

Residual Variation Intolerance Score: 12.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VLDLR Gene

HapMap Linkage Disequilibrium report
VLDLR
Human Gene Mutation Database (HGMD)
VLDLR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VLDLR Gene

Disorders for VLDLR Gene

MalaCards: The human disease database

(12) MalaCards diseases for VLDLR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

- elite association
Search VLDLR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VLDLR_HUMAN
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1) [MIM:224050]: A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures. {ECO:0000269 PubMed:16080122}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VLDLR

Genetic Association Database (GAD)
VLDLR
Human Genome Epidemiology (HuGE) Navigator
VLDLR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VLDLR
genes like me logo Genes that share disorders with VLDLR: view

No data available for Genatlas for VLDLR Gene

Publications for VLDLR Gene

  1. Changes in white muscle transcriptome induced by dietary energy levels in two lines of rainbow trout (Oncorhynchus mykiss) selected for muscle fat content. (PMID: 19874644) Kolditz C.I. … MAcdale F. (Br. J. Nutr. 2010) 23 67
  2. Decoding of lipoprotein-receptor interactions: properties of ligand binding modules governing interactions with apolipoprotein E. (PMID: 20030366) Guttman M. … Komives E.A. (Biochemistry 2010) 23 67
  3. Overproduced interleukin 6 decreases blood lipid levels via upregulation of very-low-density lipoprotein receptor. (PMID: 19433409) Hashizume M. … Mihara M. (Ann. Rheum. Dis. 2010) 23 67
  4. Enhanced activity of very low density lipoprotein receptor II promotes SGC7901 cell proliferation and migration. (PMID: 19167408) Yang P. … Qu S. (Life Sci. 2009) 23 67
  5. A neuronal VLDLR variant lacking the third complement-type repeat exhibits high capacity binding of apoE containing lipoproteins. (PMID: 19393635) Sakai K. … Oka K. (Brain Res. 2009) 23 67

Products for VLDLR Gene

Sources for VLDLR Gene

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