VLDLR - very low density lipoprotein receptor Gene

Also Known as CAMRQ1; CARMQ1; CHRMQ1; VLDL-R; VLDLRCH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7436

About VLDLR

Cytogenetic location: 9p24.2 Genomic coordinates (GRCh38): 9:2,621,787-2,660,056 (from NCBI)

This gene has 32 transcripts (splice variants), 213 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in ovary (RPKM 37.5), heart (RPKM 20.5) and 18 other tissues.

Summary

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]

VLDLR Products (4)

mRNA	Protein	Name
NM_001018056.3	NP_001018066.1	very low-density lipoprotein receptor isoform b precursor
NM_001322225.2	NP_001309154.1	very low-density lipoprotein receptor isoform c precursor
NM_001322226.2	NP_001309155.1	very low-density lipoprotein receptor isoform d precursor
NM_003383.5	NP_003374.3	very low-density lipoprotein receptor isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables apolipoprotein binding	IDA IDA: Inferred from direct assay	10571240	GOA
enables calcium-dependent protein binding	IPI IPI: Inferred from physical interaction	10571240	GOA
enables cargo receptor activity	IDA IDA: Inferred from direct assay	10571240	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8083232	GOA
enables very-low-density lipoprotein particle binding	IDA IDA: Inferred from direct assay	10571240	GOA
enables very-low-density lipoprotein particle receptor activity	IDA IDA: Inferred from direct assay	8083232	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in glycoprotein transport	IDA IDA: Inferred from direct assay	10571240	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	10571240	GOA
involved in very-low-density lipoprotein particle clearance	IDA IDA: Inferred from direct assay	8083232	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in membrane	IDA IDA: Inferred from direct assay	15082773	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VLDLR Protein Structure

Ldl_recept_a

FXa_inhibition

EGF_CA

Ldl_recept_b

0
200
400
600
800
873 a.a.

Protein Preferred Names	Protein Names
very low-density lipoprotein receptor	VLDL receptor

VLDLR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	VLDLR	P98155	LRPAP1	Homo sapiens	P30533	Anti Tag CoIP	20223215
Intra	VLDLR	P98155	LRPAP1	Homo sapiens	P30533	Affinity Chrom	8083232
Intra	VLDLR	P98155	LRPAP1	Homo sapiens	P30533	Far-WB	8083232
Cross	VLDLR	P98155	Reln	Mus musculus	Q60841	Anti Bait CoIP	10571241
Cross	VLDLR	P98155	Reln	Mus musculus	Q60841	Pull Down	10571241
Cross	VLDLR	P98155	Lrpap1	Rattus norvegicus	Q99068	Pull Down	10571241

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant VLDLR Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P76125	VLDLR Protein, Human (HEK293, His)	P98155 (G28-S797)	≥ 95%, as determined by Bis-Tris PAGE.

Related Diseases

Diseases	Alias
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Dysequilibrium Syndrome CAMRQ1 Des Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1 Cerebellar Hypoplasia, Vldlr-Associated Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome Uner Tan Syndrome Vldlr Cerebellar Hypoplasia Vldlrch Vldlr-Associated Cerebellar Hypoplasia Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive Camrq Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1 Cerebellar Disorder, Nonprogressive, With Intellectual Disability Cerebellar Hypoplasia, Vldlr Associated Autosomal Recessive Cerebellar Ataxia With Mental Retardation Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification Cerebellar Disorder, Nonprogressive, With Mental Retardation Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion Chmrq1 Des-Vldlr Dysequilibrium Syndrome-Vldlr Vldlr-Ch Camrq Syndrome Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome Uts Cerebellar Hypoplasia Vldlr-Associated Dialysis Disequilibrium Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Cerebellar Hypoplasia
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	CECBA Cerebellar Ataxia, Nonprogressive, With Mental Retardation Canpmr Nonprogressive Cerebellar Ataxia With Mental Retardation Non-Progressive Cerebellar Ataxia With Intellectual Disability Ataxia, Cerebellar, Nonprogressive, With Mental Retardation
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Osteoporosis-Pseudoglioma Syndrome	OPPG Ops Osteoporosis With Pseudoglioma Osteogenesis Imperfecta, Ocular Form Ocular Form Of Osteogenesis Imperfecta Osteogenesis Imperfecta Ocular Form Osteoporosis Pseudoglioma Syndrome Pseudoglioma With Bone Fragility
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Spinocerebellar Ataxia 37	Spinocerebellar Ataxia Type 37 SCA37 Spinocerebellar Ataxia With Altered Vertical Eye Movements
Familial Hyperlipidemia	Familial Hyperlipoproteinemia Hyperlipidaemia Hyperlipoproteinemias Hyperlipidemia Hyperlipemia Hyperlipidemias
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Lissencephaly, X-Linked, 2	X-Linked Lissencephaly With Abnormal Genitalia Hydranencephaly With Abnormal Genitalia Xlag Xlisg X-Linked Lissencephaly With Ambiguous Genitalia LISX2 Lissencephaly, X-Linked 2 X-Linked Lissencephaly 2 X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly, X-Linked, With Ambiguous Genitalia Xlis2 X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly X-Linked With Ambiguous Genitalia Lissencephaly, X-Linked, Type 2 Chromosome Xq26.3 Duplication Syndrome
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Kuhnt-Junius Degeneration	Neovascular Age-Related Macular Degeneration Exudative Senile Macular Degeneration Of Retina Senile Macular Degeneration, Wet Wet Senile Macular Retinal Degeneration Exudative Age-Related Macular Degeneration Exudative Macular Degeneration
Hyperlipoproteinemia, Type Iii	Hyperlipoproteinemia Type Iii Broad-Betalipoproteinemia Floating-Betalipoproteinemia Familial Type 3 Hyperlipoproteinemia Broad Beta Disease Familial Hyperbeta- And Prebetalipoproteinemia Familial Hypercholesterolemia With Hyperlipemia Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis Coronary Artery Disease, Severe, Susceptibility To Coronary Artery Disease, Severe Hyperlipidemia Type 3 Familial Dysbetalipoproteinemia Hyperlipoproteinemia Type 3 Coronary Artery Disease Apolipoprotein E, Deficiency Or Defect Of Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D Carbohydrate Induced Hyperlipemia Familial Hypercholesterolaemia With Hyperlipaemia Remnant Hyperlipidemia Remnant Removal Disease Dysbetalipoproteinemia Broad-Beta Disease Familial Dyslipidemia Type 3 Hlp Type 3 Remnant Hyperlipoproteinemia Familial Hyperlipoproteinemia Type Iii CAD Hyperlipoproteinemia 3 HLPP3 Deficiency Or Defect Of Apolipoprotein E Dysbetalipoproteinemia Due To Defect In Apolipoprotein E Coronary Arteriosclerosis Coronary Heart Disease
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Exudative Vitreoretinopathy 1	Retinopathy Of Prematurity Retrolental Fibroplasia EVR1 Criswick-Schepens Syndrome Rop Exudative Vitreoretinopathy, Familial, Autosomal Dominant Fevr, Autosomal Dominant Premature Retinopathy Vitreoretinopathy, Exudative 1 Autosomal Dominant Familial Exudative Vitreoretinopathy Fevr Vitreoretinopathy, Exudative, Type 1 Retinopathy Of Prematurity Nos Rlf- [Retrolental Fibroplasia] Rop - [Retinopathy Of Prematurity] Terry Syndrome
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS15661	VLDLR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18002	Vldlr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24474	Vldlr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-P990143	Anti-Mouse/Rat/Bovine VLDL-R Antibody (IgG-6A6)	Inhibitor	95.00%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	VLDLR	VGNC	VGNC:36803
Felis catus	VLDLR	VGNC	VGNC:66949
Macaca mulatta	VLDLR	VGNC	VGNC:78774
Mus musculus	VLDLR	MGD	MGI:98935
Canis familiaris	VLDLR	VGNC	VGNC:48269
Rattus norvegicus	VLDLR	RGD	RGD:3963
Others	VLDLR	NCBI