Symbol: Name: ID: |
LDLRAP1 low density lipoprotein receptor adaptor protein 1 GFS:7486 |
Gene name: | LDLRAP1 |
Chromosome: | 1p36-p35 |
Previous Symbols: | |
Previous Names: | |
Aliases: | ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2140175 | Rat Genome Database ID: | RGD:1563417 |
HGNC ID: | HGNC:18640 | RefSeq IDs: | NM_015627 |
Entrez Gene ID: | 26119 | Ensembl Gene ID: | ENSG00000157978 |
VEGA IDs: | OTTHUMG00000007386 | UniProt ID: | Q5SW96 |
UCSC ID: | uc001bkl.3 | OMIM ID: | 605747 |
Pubmed: | |||
CCDS IDs: | CCDSCCDS30639.1 |
Low density lipoprotein receptor adapter protein 1 is a protein that in humans is encoded by the LDLRAP1 gene.
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface.
Products for LDLRAP1 gene
Catalog | Product Name | Application | Company |
GFS:E07486 | low density lipoprotein receptor adaptor protein 1; ELISA kit | ELISA | n/a |
GFS:A07486 | low density lipoprotein receptor adaptor protein 1; Anti | ANTIBODIES | n/a |
GFS:P07486 | low density lipoprotein receptor adaptor protein 1; Protien | Protien | n/a |