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
In the Vinony graph
Vinony's link graph records 9 inbound references to LDLRAP1, and connects out to PubMed, human chromosome 1 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 1.
Vinony links it to 6 Wikipedia language editions.
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
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- LDLRAP1.png
Show 8 more facts
- HomoloGene ID
- 9219
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/26119
- genomic end
- 25895377
- genomic start
- 25543606
- chromosome
- human chromosome 1
- cytogenetic location
- 1p36.11
- expressed in
- islet of Langerhans
via Wikidata · CC0