LDLRAP1
Sign in to saveAlso known as ARH, ARH1, ARH2, FHCB1, FHCB2, low density lipoprotein receptor adaptor protein 1, FHCL4
protein-coding gene in the species Homo sapiens
Gene data
LDLRAP1- Name
- low density lipoprotein receptor adaptor protein 1
- Type
- protein-coding
- Position
- 25,543,550–25,591,296 (+)
- Aliases
- ARH, ARH1, ARH2, FHCB1, FHCB2, FHCL4
- Ensembl
- ENSG00000157978
- RefSeq RNA
- NM_015627.3, XM_006710559.5, XM_006710560.5, XM_006710561.5, XM_011541209.4
- RefSeq protein
- NP_056442.2, XP_006710622.1, XP_006710623.1, XP_006710624.1, XP_011539511.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
Endocytosis - Homo sapiens (human)Cholesterol metabolism - Homo sapiens (human)MetabolismPlasma lipoprotein assembly, remodeling, and clearanceCobalamin (Cbl, vitamin B12) transport and metabolismVitamin D (calciferol) metabolismMetabolism of water-soluble vitamins and cofactorsMetabolism of vitamins and cofactorsMembrane TraffickingTransport of small molecules
via MyGene.info
Gene · Ensembl
low density lipoprotein receptor adaptor protein 1
- Symbol
- LDLRAP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:25,543,550-25,591,296
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI