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

    Gene ID: 26119, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:18640
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LDLRAP1 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25543606..25590400)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25380944..25427735)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr1:25740333-25740834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 457 Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 458 Neighboring gene macoilin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25829553-25830120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25830121-25830686 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25832992-25833901 Neighboring gene MPRA-validated peak128 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25844344-25844991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25845160-25845754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25875990-25876603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25889735-25890362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25893282-25894005 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25894006-25894730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25894731-25895454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25900468-25901335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25903029-25903950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25903951-25904872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25908041-25908889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25910781-25911344 Neighboring gene Sharpr-MPRA regulatory region 3419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25947842-25948342 Neighboring gene MPRA-validated peak129 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 462 Neighboring gene MPRA-validated peak130 silencer Neighboring gene mannosidase alpha class 1C member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 463 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26019008-26019256 Neighboring gene Sharpr-MPRA regulatory region 1026 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26030010-26030510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26030511-26031011 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26032137-26033112 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26033113-26034088 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26034089-26035064 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26035065-26036040 Neighboring gene MPRA-validated peak132 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26050687-26051187 Neighboring gene NANOG hESC enhancer GRCh37_chr1:26051273-26051916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26074639-26075196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26075197-26075754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26076313-26076868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26078211-26078710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26083919-26084418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26098327-26099299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 465 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26106463-26107085 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26107086-26107708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26110213-26110835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26125878-26126599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26137118-26137992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26144488-26144988 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
    Hypercholesterolemia, familial, 4
    MedGen: C1863512 OMIM: 603813 GeneReviews: Familial Hypercholesterolemia
    Compare labs

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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
      A2BHI5, Q5SW96, Q6TQS9, Q8N2Y0, Q9UFI9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      25543606..25590400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710560.5XP_006710623.1  low density lipoprotein receptor adapter protein 1 isoform X7

      UniProtKB/TrEMBL
      B3KR97
      Related
      ENSP00000520715.1, ENST00000718277.1
      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_006710561.5XP_006710624.1  low density lipoprotein receptor adapter protein 1 isoform X9

      UniProtKB/TrEMBL
      B3KR97
      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_011541211.4XP_011539513.1  low density lipoprotein receptor adapter protein 1 isoform X8

      UniProtKB/TrEMBL
      B3KR97
      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_011541212.4XP_011539514.1  low density lipoprotein receptor adapter protein 1 isoform X11

      UniProtKB/TrEMBL
      B3KR97
      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_017000995.3XP_016856484.1  low density lipoprotein receptor adapter protein 1 isoform X13

      Related
      ENSP00000520725.1, ENST00000718287.1
    6. XM_047417473.1XP_047273429.1  low density lipoprotein receptor adapter protein 1 isoform X2

      Related
      ENSP00000520726.1, ENST00000718288.1
    7. XM_011541209.4XP_011539511.1  low density lipoprotein receptor adapter protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KR97
      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_006710559.5XP_006710622.1  low density lipoprotein receptor adapter protein 1 isoform X5

      UniProtKB/TrEMBL
      B3KR97
      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_011541210.4XP_011539512.1  low density lipoprotein receptor adapter protein 1 isoform X6

      UniProtKB/TrEMBL
      B3KR97
      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
    10. XM_024446315.2XP_024302083.1  low density lipoprotein receptor adapter protein 1 isoform X10

      UniProtKB/TrEMBL
      B3KR97
      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
    11. XM_047417497.1XP_047273453.1  low density lipoprotein receptor adapter protein 1 isoform X12

    12. XM_017000994.3XP_016856483.1  low density lipoprotein receptor adapter protein 1 isoform X3

      UniProtKB/TrEMBL
      B3KR97
    13. XM_047417482.1XP_047273438.1  low density lipoprotein receptor adapter protein 1 isoform X4

    RNA

    1. XR_946603.4 RNA Sequence

    2. XR_007058621.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      25380944..25427735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335906.1XP_054191881.1  low density lipoprotein receptor adapter protein 1 isoform X7

    2. XM_054335908.1XP_054191883.1  low density lipoprotein receptor adapter protein 1 isoform X9

    3. XM_054335907.1XP_054191882.1  low density lipoprotein receptor adapter protein 1 isoform X8

    4. XM_054335910.1XP_054191885.1  low density lipoprotein receptor adapter protein 1 isoform X11

    5. XM_054335912.1XP_054191887.1  low density lipoprotein receptor adapter protein 1 isoform X13

    6. XM_054335901.1XP_054191876.1  low density lipoprotein receptor adapter protein 1 isoform X2

    7. XM_054335900.1XP_054191875.1  low density lipoprotein receptor adapter protein 1 isoform X1

    8. XM_054335904.1XP_054191879.1  low density lipoprotein receptor adapter protein 1 isoform X5

    9. XM_054335905.1XP_054191880.1  low density lipoprotein receptor adapter protein 1 isoform X6

    10. XM_054335909.1XP_054191884.1  low density lipoprotein receptor adapter protein 1 isoform X10

    11. XM_054335911.1XP_054191886.1  low density lipoprotein receptor adapter protein 1 isoform X12

    12. XM_054335903.1XP_054191878.1  low density lipoprotein receptor adapter protein 1 isoform X4

    13. XM_054335902.1XP_054191877.1  low density lipoprotein receptor adapter protein 1 isoform X3

    RNA

    1. XR_008485987.1 RNA Sequence

    2. XR_008485988.1 RNA Sequence