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LDLRAD1 low density lipoprotein receptor class A domain containing 1 [ Homo sapiens (human) ]

Gene ID: 388633, updated on 5-Jan-2022

Summary

Official Symbol
LDLRAD1provided by HGNC
Official Full Name
low density lipoprotein receptor class A domain containing 1provided by HGNC
Primary source
HGNC:HGNC:32069
See related
Ensembl:ENSG00000203985
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
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in lung (RPKM 3.4), stomach (RPKM 0.6) and 5 other tissues See more
Orthologs
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Genomic context

See LDLRAD1 in Genome Data Viewer
Location:
1p32.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (54007298..54018186, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54472971..54483859, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11594 Neighboring gene leucine rich repeat containing 42 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 12 Neighboring gene transmembrane protein 59 Neighboring gene Sharpr-MPRA regulatory region 13762 Neighboring gene transcription elongation factor A N-terminal and central domain containing 2 Neighboring gene microRNA 4781

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
low-density lipoprotein receptor class A domain-containing protein 1

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_001010978.4NP_001010978.2  low-density lipoprotein receptor class A domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001010978.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC103740, BC127708, BM977091, CF887342
    Consensus CDS
    CCDS30725.1
    UniProtKB/Swiss-Prot
    Q5T700
    Related
    ENSP00000360411.1, ENST00000371360.2
  2. NM_001276392.2NP_001263321.1  low-density lipoprotein receptor class A domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001263321.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two exons in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC103740, BC127709, BM977091, CF887342
    Consensus CDS
    CCDS60147.1
    UniProtKB/Swiss-Prot
    Q5T700
    Related
    ENSP00000411017.1, ENST00000420619.5
  3. NM_001276393.2NP_001263322.1  low-density lipoprotein receptor class A domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001263322.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    BC103740, BC140760, BM977091, CF887342
    Consensus CDS
    CCDS60146.1
    UniProtKB/Swiss-Prot
    Q5T700
    Related
    ENSP00000445871.1, ENST00000545928.5
  4. NM_001276394.2NP_001263323.1  low-density lipoprotein receptor class A domain-containing protein 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    BC103740, BM977091, CF887342
    Consensus CDS
    CCDS60145.1
    UniProtKB/Swiss-Prot
    Q5T700
    Related
    ENSP00000360413.3, ENST00000371362.7
  5. NM_001276395.2NP_001263324.1  low-density lipoprotein receptor class A domain-containing protein 1 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an exon and uses an alternate splice site in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC103740, BC171743, BM977091, CF887342

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    54007298..54018186 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001264.1XP_016856753.1  low-density lipoprotein receptor class A domain-containing protein 1 isoform X2

  2. XM_011541446.1XP_011539748.1  low-density lipoprotein receptor class A domain-containing protein 1 isoform X1

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