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    Lrp12 low density lipoprotein-related protein 12 [ Mus musculus (house mouse) ]

    Gene ID: 239393, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Lrp12provided by MGI
    Official Full Name
    low density lipoprotein-related protein 12provided by MGI
    Primary source
    MGI:MGI:2443132
    See related
    Ensembl:ENSMUSG00000022305 AllianceGenome:MGI:2443132
    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
    LRP-12; C820005L12Rik
    Summary
    Acts upstream of or within neuron migration and neuron projection development. Predicted to be located in clathrin-coated pit. Predicted to be active in plasma membrane. Is expressed in nervous system; renal vasculature; sensory organ; and turbinate bone primordium. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 28 and oculopharyngodistal myopathy 1. Orthologous to human LRP12 (LDL receptor related protein 12). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in CNS E14 (RPKM 8.6), whole brain E14.5 (RPKM 7.7) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lrp12 in Genome Data Viewer
    Location:
    15 B3.1; 15 15.59 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (39733985..39807417, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (39870589..39944015, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene dihydropyrimidinase Neighboring gene predicted gene 16291 Neighboring gene predicted gene, 53879 Neighboring gene expressed sequence AU022793 Neighboring gene STARR-seq mESC enhancer starr_38497 Neighboring gene STARR-seq mESC enhancer starr_38498 Neighboring gene STARR-seq mESC enhancer starr_38499 Neighboring gene predicted gene, 33251

    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. LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization. Grote A, et al. Neurobiol Dis, 2016 Feb. PMID 26639854
    2. LRP12 is an endogenous transmembrane inactivator of α4 integrins. Huang M, et al. Cell Rep, 2023 Jun 27. PMID 37330909
    3. GUDMAP: the genitourinary developmental molecular anatomy project. McMahon AP, et al. J Am Soc Nephrol, 2008 Apr. PMID 18287559
    4. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LRP12 is an endogenous transmembrane inactivator of alpha4 integrins.
      Title: LRP12 is an endogenous transmembrane inactivator of α4 integrins.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron migration ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    low-density lipoprotein receptor-related protein 12

    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_001347036.2 → NP_001333965.1  low-density lipoprotein receptor-related protein 12 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      BC039793, BC058345
      Consensus CDS
      CCDS84168.1
      UniProtKB/Swiss-Prot
      Q8BUJ9
      Related
      ENSMUSP00000105934.3, ENSMUST00000110305.3

    2. NM_172814.4 → NP_766402.1  low-density lipoprotein receptor-related protein 12 isoform 1 precursor

      See identical proteins and their annotated locations for NP_766402.1

      Status: VALIDATED

      Source sequence(s)
      AC101945, AC158567
      Consensus CDS
      CCDS27446.1
      UniProtKB/Swiss-Prot
      Q8BUJ9, Q8BWM9
      Related
      ENSMUSP00000022916.6, ENSMUST00000022916.13
      Conserved Domains (2) summary
      cd00041
      Location:56 → 158
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:451 → 485
      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_000081.7 Reference GRCm39 C57BL/6J

      Range
      39733985..39807417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520903.5 → XP_006520966.1  low-density lipoprotein receptor-related protein 12 isoform X2

      Conserved Domains (3) summary
      cd00041
      Location:249 → 353
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:433 → 467
      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 ...
      pfam00431
      Location:28 → 137
      CUB; CUB domain

    2. XM_006520902.4 → XP_006520965.1  low-density lipoprotein receptor-related protein 12 isoform X1

      Conserved Domains (3) summary
      cd00041
      Location:268 → 372
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00112
      Location:452 → 486
      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 ...
      pfam00431
      Location:47 → 156
      CUB; CUB domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BUJ9.2 GenPept UniProtKB/Swiss-Prot:Q8BUJ9

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