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Ldlrad4 low density lipoprotein receptor class A domain containing 4 [ Mus musculus (house mouse) ]

Gene ID: 52662, updated on 28-Oct-2024

Summary

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Official Symbol
Ldlrad4provided by MGI
Official Full Name
low density lipoprotein receptor class A domain containing 4provided by MGI
Primary source
MGI:MGI:1277150
See related
Ensembl:ENSMUSG00000024544 AllianceGenome:MGI:1277150
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
C18orf1; A430083H02; D18Ertd653e; 8230401C20Rik; A430108L08Rik; D330030L18Rik
Summary
Predicted to enable R-SMAD binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in Golgi membrane and early endosome membrane. Orthologous to human LDLRAD4 (low density lipoprotein receptor class A domain containing 4). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in thymus adult (RPKM 10.1), subcutaneous fat pad adult (RPKM 5.0) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Ldlrad4 in Genome Data Viewer
Location:
18 E2; 18 40.14 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (68065345..68393621)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (67932274..68260550)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1518 Neighboring gene STARR-positive B cell enhancer ABC_E11662 Neighboring gene centrosomal protein 192 Neighboring gene STARR-seq mESC enhancer starr_44916 Neighboring gene STARR-seq mESC enhancer starr_44917 Neighboring gene STARR-seq mESC enhancer starr_44919 Neighboring gene tubulin, alpha 1B pseudogene Neighboring gene STARR-seq mESC enhancer starr_44922 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:68126707-68126976 Neighboring gene predicted gene, 52336 Neighboring gene VISTA enhancer mm304 Neighboring gene STARR-seq mESC enhancer starr_44925 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E9174 Neighboring gene STARR-seq mESC enhancer starr_44926 Neighboring gene family with sequence similarity 210, member A Neighboring gene microRNA 7219 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:68459940-68460049 Neighboring gene RNA (guanine-7-) methyltransferase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Low density lipoprotein receptor class A domain containing 4 (LDLRAD4) promotes tumorigenesis of hepatic cancer cells. Liu Z, et al. Exp Cell Res, 2017 Nov 15. PMID 28888937
  2. C18 ORF1, a novel negative regulator of transforming growth factor-β signaling. Nakano N, et al. J Biol Chem, 2014 May 2. PMID 24627487, Free PMC Article
  3. Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease. Youlten SE, et al. Nat Commun, 2021 May 5. PMID 33953184, Free PMC Article
  4. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
  5. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (2) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables R-SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables R-SMAD binding IEA
Inferred from Electronic Annotation
more info
  
enables R-SMAD binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in negative regulation of SMAD protein signal transduction ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cell migration ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of epithelial to mesenchymal transition ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in early endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome membrane ISO
Inferred from Sequence Orthology
more info
  
located_in early endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
low-density lipoprotein receptor class A domain-containing protein 4

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_001357444.1 → NP_001344373.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC111069, AK040289, AK052338
    UniProtKB/TrEMBL
    Q8BYE2

  2. NM_172631.4 → NP_766219.2  low-density lipoprotein receptor class A domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_766219.2

    Status: VALIDATED

    Source sequence(s)
    AC127236, AK052338, BE987654
    Consensus CDS
    CCDS29325.1
    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Related
    ENSMUSP00000068471.4, ENSMUST00000063775.5
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    68065345..68393621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030250537.1 → XP_030106397.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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. XM_006526085.4 → XP_006526148.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006526148.1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  3. XM_036161207.1 → XP_036017100.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  4. XM_006526086.4 → XP_006526149.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006526149.1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  5. XM_006526087.4 → XP_006526150.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006526150.1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  6. XM_030250536.1 → XP_030106396.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  7. XM_030250538.1 → XP_030106398.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  8. XM_006526089.4 → XP_006526152.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006526152.1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  9. XM_006526088.5 → XP_006526151.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    See identical proteins and their annotated locations for XP_006526151.1

    UniProtKB/Swiss-Prot
    Q8BWJ4
    UniProtKB/TrEMBL
    Q4VAH9
    Conserved Domains (1) summary
    cd00112
    Location:16 → 47
    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 ...

  10. XM_030250539.2 → XP_030106399.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

    UniProtKB/TrEMBL
    Q8R5E2

  11. XM_036161209.1 → XP_036017102.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

    UniProtKB/TrEMBL
    Q8R5E2

  12. XM_030250540.2 → XP_030106400.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

    UniProtKB/TrEMBL
    Q8R5E2

  13. XM_006526092.5 → XP_006526155.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

    See identical proteins and their annotated locations for XP_006526155.1

    UniProtKB/TrEMBL
    Q8R5E2

  14. XM_036161208.1 → XP_036017101.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X3

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BWJ4.1 GenPept UniProtKB/Swiss-Prot:Q8BWJ4

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