UniProt Protein Function: | VLDLR: 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. Defects in VLDLR are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 1 (CMARQ1); also known as dysequilibrium syndrome (DES) or non- progressive cerebellar disorder with mental retardation. CMARQ1 is a congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation and cerebellar hypoplasia. Additional features include short stature, strabismus, pes planus and, rarely, seizures. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Receptor, misc. Chromosomal Location of Human Ortholog: 9p24 Cellular Component: membrane; plasma membrane; integral to membrane; coated pit; receptor complex Molecular Function:very-low-density lipoprotein receptor activity; low-density lipoprotein receptor activity; very-low-density lipoprotein binding; protein binding; apolipoprotein binding; calcium ion binding; glycoprotein binding; calcium-dependent protein binding Biological Process: nervous system development; receptor-mediated endocytosis; cholesterol metabolic process; positive regulation of protein kinase activity; ventral spinal cord development; negative regulation of transcription from RNA polymerase II promoter; signal transduction; lipid transport; memory Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
NCBI 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] |
UniProt Code: | P98155 |
NCBI GenInfo Identifier: | 65301167 |
NCBI Gene ID: | 7436 |
NCBI Accession: | NP_003374.3 |
UniProt Secondary Accession: | P98155,Q5VVF6, B2RMZ7, D3DRH6, |
UniProt Related Accession: | P98155 |
Molecular Weight: | 96,098 Da |
NCBI Full Name: | very low-density lipoprotein receptor isoform a |
NCBI Synonym Full Names: | very low density lipoprotein receptor |
NCBI Official Symbol: | VLDLR |
NCBI Official Synonym Symbols: | CARMQ1; CHRMQ1; VLDLRCH |
NCBI Protein Information: | very low-density lipoprotein receptor; VLDL-R; VLDL receptor |
UniProt Protein Name: | Very low-density lipoprotein receptor |
Protein Family: | Very low-density lipoprotein receptor |
UniProt Gene Name: | VLDLR |
UniProt Entry Name: | VLDLR_HUMAN |