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    Rhbdl3 rhomboid like 3 [ Mus musculus (house mouse) ]

    Gene ID: 246104, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Rhbdl3provided by MGI
    Official Full Name
    rhomboid like 3provided by MGI
    Primary source
    MGI:MGI:2179276
    See related
    Ensembl:ENSMUSG00000017692 AllianceGenome:MGI:2179276
    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
    Vrho; Rhbdl4; Rhomr1
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in membrane. Is expressed in several structures, including central nervous system; embryo ectoderm; reproductive system; sensory organ; and thymus. Orthologous to human RHBDL3 (rhomboid like 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E14 (RPKM 7.2), whole brain E14.5 (RPKM 6.0) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rhbdl3 in Genome Data Viewer
    Location:
    11 B5; 11 47.73 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (80191296..80246812)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (80300471..80355986)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7025 Neighboring gene ring finger protein 135 Neighboring gene ras homolog family member T1 Neighboring gene STARR-seq mESC enhancer starr_30145 Neighboring gene STARR-positive B cell enhancer mm9_chr11:80116169-80116470 Neighboring gene RIKEN cDNA 5730455P16 gene Neighboring gene STARR-positive B cell enhancer ABC_E7026 Neighboring gene STARR-seq mESC enhancer starr_30146 Neighboring gene zinc finger protein 207

    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
    • 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. Rhomboid intramembrane protease RHBDL4 triggers ER-export and non-canonical secretion of membrane-anchored TGFα. Wunderle L, et al. Sci Rep, 2016 Jun 6. PMID 27264103, Free PMC Article
    2. Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene rhomboid. Jászai J, et al. Mech Dev, 2002 Apr. PMID 11900977
    3. RHBDL4-triggered downregulation of COPII adaptor protein TMED7 suppresses TLR4-mediated inflammatory signaling. Knopf JD, et al. Nat Commun, 2024 Mar 7. PMID 38453906, Free PMC Article
    4. Unified rhombic lip origins of group 3 and group 4 medulloblastoma. Smith KS, et al. Nature, 2022 Sep. PMID 36131015, Free PMC Article
    5. Characterization of the proneural gene regulatory network during mouse telencephalon development. Gohlke JM, et al. BMC Biol, 2008 Mar 31. PMID 18377642, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RHBDL4-triggered downregulation of COPII adaptor protein TMED7 suppresses TLR4-mediated inflammatory signaling.
      Title: RHBDL4-triggered downregulation of COPII adaptor protein TMED7 suppresses TLR4-mediated inflammatory signaling.
    2. Here the authors show that the mammalian rhomboid protease RHBDL4 (also known as Rhbdd1) promotes trafficking of several membrane proteins, including the EGFR ligand TGFalpha, from the endoplasmic reticulum (ER) to the Golgi apparatus, thereby triggering their secretion by extracellular microvesicles.
      Title: Rhomboid intramembrane protease RHBDL4 triggers ER-export and non-canonical secretion of membrane-anchored TGFα.
    3. Cloning and expression of Ventrhoid
      Title: Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene rhomboid.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rhomboid-related protein 3
    Names
    rhomboid protease 3
    rhomboid related gene 1
    rhomboid, veinlet-like 3
    rhomboid, veinlet-like 4
    ventrhoid transmembrane protein
    NP_631974.1
    XP_006533389.1
    XP_006533390.1
    XP_006533391.1
    XP_006533392.1
    XP_006533393.1
    XP_006533394.1
    XP_011247323.1
    XP_030101866.1
    XP_036012597.1

    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_139228.3 → NP_631974.1  rhomboid-related protein 3

      See identical proteins and their annotated locations for NP_631974.1

      Status: VALIDATED

      Source sequence(s)
      AL591146, AL591426, BC054784
      Consensus CDS
      CCDS25131.1
      UniProtKB/Swiss-Prot
      P58873
      Related
      ENSMUSP00000017836.8, ENSMUST00000017836.8
      Conserved Domains (2) summary
      pfam01694
      Location:207 → 359
      Rhomboid; Rhomboid family
      pfam13499
      Location:36 → 100
      EF-hand_7; EF-hand domain pair

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      80191296..80246812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006533326.5 → XP_006533389.1  rhomboid-related protein 3 isoform X1

      Conserved Domains (2) summary
      pfam13499
      Location:36 → 100
      EF-hand_7; EF-hand domain pair
      cl21536
      Location:207 → 260
      Rhomboid; Rhomboid family

    2. XM_006533331.3 → XP_006533394.1  rhomboid-related protein 3 isoform X6

      Conserved Domains (1) summary
      cl21536
      Location:154 → 207
      Rhomboid; Rhomboid family

    3. XM_006533327.4 → XP_006533390.1  rhomboid-related protein 3 isoform X2

      Conserved Domains (2) summary
      pfam13499
      Location:36 → 100
      EF-hand_7; EF-hand domain pair
      cl21536
      Location:207 → 260
      Rhomboid; Rhomboid family

    4. XM_006533328.3 → XP_006533391.1  rhomboid-related protein 3 isoform X3

      Conserved Domains (2) summary
      PTZ00184
      Location:38 → 94
      PTZ00184; calmodulin; Provisional
      cl21536
      Location:199 → 252
      Rhomboid; Rhomboid family

    5. XM_011249021.3 → XP_011247323.1  rhomboid-related protein 3 isoform X7

      Conserved Domains (1) summary
      cl21536
      Location:146 → 199
      Rhomboid; Rhomboid family

    6. XM_006533329.3 → XP_006533392.1  rhomboid-related protein 3 isoform X4

      Conserved Domains (2) summary
      pfam01694
      Location:207 → 358
      Rhomboid; Rhomboid family
      pfam13499
      Location:36 → 100
      EF-hand_7; EF-hand domain pair

    7. XM_006533330.3 → XP_006533393.1  rhomboid-related protein 3 isoform X5

      Conserved Domains (2) summary
      PTZ00184
      Location:38 → 94
      PTZ00184; calmodulin; Provisional
      pfam01694
      Location:199 → 351
      Rhomboid; Rhomboid family

    8. XM_036156704.1 → XP_036012597.1  rhomboid-related protein 3 isoform X8

      Conserved Domains (1) summary
      pfam01694
      Location:144 → 298
      Rhomboid; Rhomboid family

    9. XM_030246006.2 → XP_030101866.1  rhomboid-related protein 3 isoform X9

      Conserved Domains (1) summary
      cl21536
      Location:109 → 162
      Rhomboid; Rhomboid family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58873.1 GenPept UniProtKB/Swiss-Prot:P58873

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