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    LDLRAD3 low density lipoprotein receptor class A domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 143458, updated on 10-Dec-2024

    Summary

    Official Symbol
    LDLRAD3provided by HGNC
    Official Full Name
    low density lipoprotein receptor class A domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:27046
    See related
    Ensembl:ENSG00000179241 MIM:617986; AllianceGenome:HGNC:27046
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LRAD3
    Summary
    Predicted to enable amyloid-beta binding activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within regulation of protein processing. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 8.5), prostate (RPKM 7.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LDLRAD3 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (35944062..36232136)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (36082756..36371759)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (35965612..36253686)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902661 Neighboring gene keratin 18 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4628 Neighboring gene NANOG hESC enhancer GRCh37_chr11:35999121-35999622 Neighboring gene NANOG hESC enhancer GRCh37_chr11:36008240-36008741 Neighboring gene WEE2 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:36039319-36040518 Neighboring gene ribosomal protein L12 pseudogene 31 Neighboring gene Sharpr-MPRA regulatory region 260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:36060221-36060728 Neighboring gene microRNA 3973 Neighboring gene uncharacterized LOC101928510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36111937-36112464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36112465-36112991 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21313 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36127161-36128105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36128106-36129049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:36129695-36130220 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36130221-36130744 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36131269-36131792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36132843-36133366 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36165205-36165812 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:36170828-36172027 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21355 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:36200889-36201107 Neighboring gene Sharpr-MPRA regulatory region 9208 Neighboring gene Sharpr-MPRA regulatory region 15199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36310336-36311038 Neighboring gene COMM domain containing 9 Neighboring gene proline rich 5 like Neighboring gene Sharpr-MPRA regulatory region 5372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:36398745-36399316 Neighboring gene Sharpr-MPRA regulatory region 14138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36476801-36477325

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PRR5L

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in receptor-mediated endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    low-density lipoprotein receptor class A domain-containing protein 3
    Names
    LDLR class A domain-containing protein 3

    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.

    mRNA and Protein(s)

    1. NM_001304263.2NP_001291192.1  low-density lipoprotein receptor class A domain-containing protein 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001291192.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter and contains an alternate internal amino acid compared to isoform 1.
      Source sequence(s)
      AK075546, BC042754, BC143824, BY997532, CK904050
      Consensus CDS
      CCDS76394.1
      UniProtKB/TrEMBL
      E9PR86
      Related
      ENSP00000433954.1, ENST00000528989.5
      Conserved Domains (1) summary
      cd00112
      Location:2257
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    2. NM_001304264.2NP_001291193.1  low-density lipoprotein receptor class A domain-containing protein 3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' region and contains an alternate exon in the central region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in isoform (3) with is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK075546, BC042754, BC143823, BY997532, CK904050
      UniProtKB/Swiss-Prot
      Q86YD5
    3. NM_174902.4NP_777562.1  low-density lipoprotein receptor class A domain-containing protein 3 precursor

      See identical proteins and their annotated locations for NP_777562.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK075546, BC042754, BC136286, BY997532, CK904050
      Consensus CDS
      CCDS31462.1
      UniProtKB/Swiss-Prot
      B7Z1U3, B9EG81, Q86YD5, Q8NBJ0
      Related
      ENSP00000318607.5, ENST00000315571.6
      Conserved Domains (1) summary
      cd00112
      Location:3264
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      35944062..36232136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      36082756..36371759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)