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

Gene ID: 26119, updated on 22-Aug-2020

Summary

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 MIM:605747
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; FHCL4
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]
Expression
Ubiquitous expression in spleen (RPKM 14.0), lymph node (RPKM 12.3) and 25 other tissues See more
Orthologs

Genomic context

See LDLRAP1 in Genome Data Viewer
Location:
1p36.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (25543588..25590400)
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 macoilin 1 Neighboring gene mannosidase alpha class 1C member 1 Neighboring gene selenoprotein N

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Familial hypercholesterolemia 4
MedGen: C1863512 OMIM: 603813 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34705, DKFZp586D0624

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AP-1 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
AP-2 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
amyloid-beta 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 residue 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 
Process Evidence Code Pubs
amyloid precursor protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to cytokine stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
cholesterol transport NAS
Non-traceable Author Statement
more info
PubMed 
low-density lipoprotein particle clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
positive regulation of cholesterol metabolic process IC
Inferred by Curator
more info
PubMed 
positive regulation of low-density lipoprotein particle clearance IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of receptor-mediated endocytosis involved in cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of vascular smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor-mediated endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis involved in cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
neurofilament ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
low density lipoprotein receptor adapter protein 1
Names
LDL receptor adaptor protein
autosomal recessive hypercholesterolemia protein

NCBI Reference Sequences (RefSeq)

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_015627.3NP_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
    ENSP00000363458.4, ENST00000374338.5
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    25543588..25590400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000995.2XP_016856484.1  low density lipoprotein receptor adapter protein 1 isoform X10

  2. XM_006710560.4XP_006710623.1  low density lipoprotein receptor adapter protein 1 isoform X5

    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_006710561.4XP_006710624.1  low density lipoprotein receptor adapter protein 1 isoform X7

    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_011541211.3XP_011539513.1  low density lipoprotein receptor adapter protein 1 isoform X6

    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_011541212.3XP_011539514.1  low density lipoprotein receptor adapter protein 1 isoform X9

    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_006710559.4XP_006710622.1  low density lipoprotein receptor adapter protein 1 isoform X3

    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_011541210.3XP_011539512.1  low density lipoprotein receptor adapter protein 1 isoform X4

    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
  8. XM_011541209.3XP_011539511.1  low density lipoprotein receptor adapter protein 1 isoform X1

    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
  9. XM_024446315.1XP_024302083.1  low density lipoprotein receptor adapter protein 1 isoform X8

    Conserved Domains (1) summary
    cd13159
    Location:1121
    PTB_LDLRAP-mammal-like; Low Density Lipoprotein Receptor Adaptor Protein 1 (LDLRAP1) in mammals and similar proteins Phosphotyrosine-binding (PTB) PH-like fold
  10. XM_017000994.2XP_016856483.1  low density lipoprotein receptor adapter protein 1 isoform X2

RNA

  1. XR_001737112.2 RNA Sequence

  2. XR_946602.3 RNA Sequence

  3. XR_002956258.1 RNA Sequence

  4. XR_426598.4 RNA Sequence

  5. XR_001737113.2 RNA Sequence

  6. XR_946603.3 RNA Sequence

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