• Gene id: 7436

Gene Summary

• Gene Symbol: VLDLR   Gene   UCSC   Ensembl
• Aliases: CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH
• Gene name: very low density lipoprotein receptor
• Alternate names: very low-density lipoprotein receptor, VLDL receptor,
• Gene location: 9p24.2 (31873806: 31917356)     Exons: 6     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 192977

Protein Summary

• Protein general information: P98155  
  • Name: Very low density lipoprotein receptor (VLDL receptor) (VLDL R)
  • Length: 873  
  • Mass: 96098
  • Tissue specificity: Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.
• Sequence:

  MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVDGSDEKNCVKKTCAES
  DFVCNNGQCVPSRWKCDGDPDCEDGSDESPEQCHMRTCRIHEISCGAHSTQCIPVSWRCDGENDCDSGEDEENCG
  NITCSPDEFTCSSGRCISRNFVCNGQDDCSDGSDELDCAPPTCGAHEFQCSTSSCIPISWVCDDDADCSDQSDES
  LEQCGRQPVIHTKCPASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI
  RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINECLVNNGGCSHICKDLV
  IGYECDCAAGFELIDRKTCGDIDECQNPGICSQICINLKGGYKCECSRGYQMDLATGVCKAVGKEPSLIFTNRRD
  IRKIGLERKEYIQLVEQLRNTVALDADIAAQKLFWADLSQKAIFSASIDDKVGRHVKMIDNVYNPAAIAVDWVYK
  TIYWTDAASKTISVATLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
  WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWIDGENEAVYGANKFTG
  SELATLVNNLNDAQDIIVYHELVQPSGKNWCEEDMENGGCEYLCLPAPQINDHSPKYTCSCPSGYNVEENGRDCQ
  STATTVTYSETKDTNTTEISATSGLVPGGINVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHK
  NMKSMNFDNPVYLKTTEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA

• Structural information:
  • Protein Domains: (31..6-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (70..11-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (111..15-)
    A (/note="LDL-receptor-class)
    (/evid-)
  • Interpro: IPR011042  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR036055  IPR023415  IPR000033  IPR002172  IPR032931  
  • Prosite: PS00010 PS01186 PS50026 PS01187 PS01209 PS50068 PS51120
  • CDD: cd00112
  • PDB: 1V9U 3DPR 6BYV
  • PDBsum: 1V9U 3DPR 6BYV
  • DIP: 40925
  • STRING: ENSP00000371532
• Other Databases: GeneCards:  VLDLR  Malacards:  VLDLR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030229	very-low-density lipoprotein particle receptor activity	TAS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0030229	very-low-density lipoprotein particle receptor activity	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0034361	very-low-density lipoprotein particle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005041	low-density lipoprotein particle receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007613	memory	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007411	axon guidance	TAS	biological process
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034447	very-low-density lipoprotein particle clearance	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900006	positive regulation of dendrite development	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0038026	reelin-mediated signaling pathway	IEA	biological process
GO:0038025	reelin receptor activity	IEA	molecular function
GO:0021517	ventral spinal cord development	IEA	biological process
GO:0034185	apolipoprotein binding	IDA	molecular function
GO:0038024	cargo receptor activity	IDA	molecular function
GO:0034185	apolipoprotein binding	ISS	molecular function
GO:0030229	very-low-density lipoprotein particle receptor activity	IDA	molecular function
GO:0034189	very-low-density lipoprotein particle binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0038025	reelin receptor activity	ISS	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0034436	glycoprotein transport	IDA	biological process
GO:1900006	positive regulation of dendrite development	ISS	biological process
GO:0006898	receptor-mediated endocytosis	IDA	biological process
GO:0034447	very-low-density lipoprotein particle clearance	IDA	biological process
GO:0038026	reelin-mediated signaling pathway	ISS	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Cerebellar ataxia, mental retardation	KEGG:H01204
Cerebellar ataxia, mental retardation	KEGG:H01204
Alzheimer's disease	PMID:7550352
autistic disorder	PMID:15820235
Dementia	PMID:11342683
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881