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

    Gene ID: 52662, updated on 9-Dec-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, Dec 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

    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

    Gene LinkOut

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