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

    Gene ID: 26119, updated on 19-Jul-2021

    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
    NEW
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    Genomic context

    See LDLRAP1 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (25543588..25590400)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25870097..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

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

    NEW Try the new Transcript table

    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 109.20210514

    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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