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

Gene ID: 143458, updated on 11-Jun-2021

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
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
Expression
Ubiquitous expression in brain (RPKM 8.5), prostate (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

See LDLRAD3 in Genome Data Viewer
Location:
11p13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (35944062..36232136)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (35965612..36253686)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 44 Neighboring gene keratin 18 pseudogene 14 Neighboring gene WEE2 oocyte meiosis inhibiting kinase Neighboring gene ribosomal protein L12 pseudogene 31 Neighboring gene uncharacterized LOC101928510 Neighboring gene microRNA 3973 Neighboring gene COMM domain containing 9 Neighboring gene proline rich 5 like Neighboring gene Sharpr-MPRA regulatory region 14138

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PRR5L

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein processing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
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)

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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/Swiss-Prot
    Q86YD5
    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
    Q86YD5
    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: 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_000011.10 Reference GRCh38.p13 Primary Assembly

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