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

Gene ID: 279766, updated on 21-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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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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