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    Rhbdd3 rhomboid domain containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 279766, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Rhbdd3provided by MGI
    Official Full Name
    rhomboid domain containing 3provided by MGI
    Primary source
    MGI:MGI:2444684
    See related
    Ensembl:ENSMUSG00000034175 AllianceGenome:MGI:2444684
    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
    Ptag
    Summary
    Predicted to enable serine-type endopeptidase activity. Acts upstream of or within several processes, including liver development; negative regulation of natural killer cell activation; and positive regulation of protein catabolic process. Predicted to be located in membrane. Predicted to be integral component of membrane. Orthologous to human RHBDD3 (rhomboid domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 54.0), genital fat pad adult (RPKM 23.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rhbdd3 in Genome Data Viewer
    Location:
    11 A1; 11 3.26 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (5048282..5056100)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (5098282..5106100)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene adaptor protein complex AP-1, beta 1 subunit Neighboring gene predicted gene, 24958 Neighboring gene growth arrest-specific 2 like 1 Neighboring gene RAS-like, family 10, member A Neighboring gene Ewing sarcoma breakpoint region 1 Neighboring gene STARR-positive B cell enhancer ABC_E8383 Neighboring gene STARR-positive B cell enhancer ABC_E11468 Neighboring gene EMI domain containing 1 Neighboring gene predicted gene, 46266 Neighboring gene predicted gene, 39572

    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. Isolation and characterization of a novel pituitary tumor apoptosis gene. Bahar A, et al. Mol Endocrinol, 2004 Jul. PMID 15105437
    2. Rhbdd3 controls autoimmunity by suppressing the production of IL-6 by dendritic cells via K27-linked ubiquitination of the regulator NEMO. Liu J, et al. Nat Immunol, 2014 Jul. PMID 24859449
    3. Rhomboid domain-containing protein 3 is a negative regulator of TLR3-triggered natural killer cell activation. Liu J, et al. Proc Natl Acad Sci U S A, 2013 May 7. PMID 23610400, Free PMC Article
    4. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    5. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. report that Rhbdd3, a member of the rhomboid family of proteases, suppressed the activation of dendritic cells and production of interleukin 6 (IL-6) triggered by Toll-like receptors
      Title: Rhbdd3 controls autoimmunity by suppressing the production of IL-6 by dendritic cells via K27-linked ubiquitination of the regulator NEMO.
    2. Rhbdd3 is a feedback inhibitor of TLR3-triggered NK cell activation
      Title: Rhomboid domain-containing protein 3 is a negative regulator of TLR3-triggered natural killer cell activation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • 5730411O18Rik, RP23-338J18.2

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within liver development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of natural killer cell activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of acute inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rhomboid domain-containing protein 3
    Names
    pituitary-derived proapoptotic

    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_001290491.1 → NP_001277420.1  rhomboid domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001277420.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses two alternate splice sites in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AK053223, AL645845, BB841991, BY641428
      Consensus CDS
      CCDS70133.1
      UniProtKB/Swiss-Prot
      Q8BP97
      Related
      ENSMUSP00000044703.6, ENSMUST00000036320.12
      Conserved Domains (1) summary
      cl21463
      Location:316 → 359
      UBA_like_SF; UBA domain-like superfamily

    2. NM_001290492.1 → NP_001277421.1  rhomboid domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_001277421.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 encode the same isoform.
      Source sequence(s)
      AK077457, AL645845, BB841991, BC145287, BY641428
      Consensus CDS
      CCDS24397.1
      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily

    3. NM_001290493.1 → NP_001277422.1  rhomboid domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_001277422.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AK077457, AL645845, BY641428
      Consensus CDS
      CCDS24397.1
      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Related
      ENSMUSP00000105504.3, ENSMUST00000109878.9
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily

    4. NM_177370.4 → NP_796344.1  rhomboid domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_796344.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AK077457, AL645845, BB841991, BY641428
      Consensus CDS
      CCDS24397.1
      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Related
      ENSMUSP00000099131.4, ENSMUST00000101610.10
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily

    RNA

    1. NR_110961.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks a 5' exon, and uses two alternate splice sites at internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK053223, AK077457, BY641428
      Related
      ENSMUST00000129016.3

    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
      5048282..5056100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514714.4 → XP_006514777.1  rhomboid domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006514777.1

      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily

    2. XM_006514715.3 → XP_006514778.1  rhomboid domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_006514778.1

      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily

    3. XM_030246061.1 → XP_030101921.1  rhomboid domain-containing protein 3 isoform X3

    4. XM_017314584.2 → XP_017170073.1  rhomboid domain-containing protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q8BP97
      Conserved Domains (1) summary
      cl21463
      Location:316 → 359
      UBA_like_SF; UBA domain-like superfamily

    5. XM_030246060.1 → XP_030101920.1  rhomboid domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily

    6. XM_036156745.1 → XP_036012638.1  rhomboid domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily

    7. XM_036156746.1 → XP_036012639.1  rhomboid domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A2RTD2, B7ZNK0, Q3U0Y4, Q5SUT5, Q5SUT6, Q5SUT7, Q8BP97
      UniProtKB/TrEMBL
      B7ZNJ8
      Conserved Domains (1) summary
      cl21463
      Location:326 → 369
      UBA_like_SF; UBA domain-like superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BP97.1 GenPept UniProtKB/Swiss-Prot:Q8BP97

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