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LDLRAP1 low density lipoprotein receptor adaptor protein 1 [ Homo sapiens (human) ]

Gene ID: 26119, updated on 12-May-2016
Official Symbol
LDLRAP1provided by HGNC
Official Full Name
low density lipoprotein receptor adaptor protein 1provided by HGNC
Primary source
HGNC:HGNC:18640
See related
Ensembl:ENSG00000157978 HPRD:05765; MIM:605747; Vega:OTTHUMG00000007386
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARH; ARH1; ARH2; FHCB1; FHCB2
Summary
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]
Orthologs
Location:
1p36.11
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (25543580..25591287)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25870071..25895377)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Rh blood group CcEe antigens Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7 Neighboring gene transmembrane protein 57 Neighboring gene mannosidase alpha class 1C member 1 Neighboring gene uncharacterized LOC105376883 Neighboring gene selenoprotein N, 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hypercholesterolemia, autosomal recessive
MedGen: C1863512 OMIM: 603813 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
  • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
    Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC34705, DKFZp586D0624

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AP-2 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-amyloid binding IPI
Inferred from Physical Interaction
more info
PubMed 
clathrin adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
clathrin binding IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphotyrosine binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor signaling complex scaffold activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
signaling adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with AP-1 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with AP-2 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
neurofilament ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
low density lipoprotein receptor adapter protein 1
Names
LDL receptor adaptor protein
autosomal recessive hypercholesterolemia protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008932.1 RefSeqGene

    Range
    5001..30302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_276

mRNA and Protein(s)

  1. NM_015627.2NP_056442.2  low density lipoprotein receptor adapter protein 1

    See identical proteins and their annotated locations for NP_056442.2

    Status: REVIEWED

    Source sequence(s)
    AK091219, AL117654, AL606491, DA930479
    Consensus CDS
    CCDS30639.1
    UniProtKB/Swiss-Prot
    Q5SW96
    UniProtKB/TrEMBL
    B3KR97
    Related
    ENSP00000363458, OTTHUMP00000008526, ENST00000374338, OTTHUMT00000019350
    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    25543580..25591287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541211.1XP_011539513.1  

    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
  2. XM_006710560.2XP_006710623.1  

    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
  3. XM_011541212.1XP_011539514.1  

    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
  4. XM_006710561.2XP_006710624.1  

    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
  5. XM_011541209.1XP_011539511.1  

    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
  6. XM_006710559.2XP_006710622.1  

    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
  7. XM_011541210.1XP_011539512.1  

    Conserved Domains (1) summary
    cd13159
    Location:44166
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold

RNA

  1. XR_946602.1 RNA Sequence

  2. XR_426598.2 RNA Sequence

  3. XR_946603.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    25983497..26008795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)