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    Rhbdd1 rhomboid domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 76867, updated on 17-Dec-2024

    Summary

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    Official Symbol
    Rhbdd1provided by MGI
    Official Full Name
    rhomboid domain containing 1provided by MGI
    Primary source
    MGI:MGI:1924117
    See related
    Ensembl:ENSMUSG00000026142 AllianceGenome:MGI:1924117
    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
    RRP4; mRHBDD1; 4930418P06Rik
    Summary
    Enables peptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein processing. Located in endoplasmic reticulum membrane and endoplasmic reticulum quality control compartment. Orthologous to human RHBDD1 (rhomboid domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 17.9), bladder adult (RPKM 9.2) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rhbdd1 in Genome Data Viewer
    Location:
    1 C5; 1 42.08 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (82294178..82423087)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (82316457..82445366)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene microRNA 6344 Neighboring gene STARR-seq mESC enhancer starr_01474 Neighboring gene STARR-seq mESC enhancer starr_01475 Neighboring gene insulin receptor substrate 1 Neighboring gene STARR-seq mESC enhancer starr_01476 Neighboring gene STARR-seq mESC enhancer starr_01477 Neighboring gene predicted gene, 46095 Neighboring gene collagen, type IV, alpha 4 Neighboring gene collagen, type IV, alpha 3 Neighboring gene RIKEN cDNA C430014B12 gene

    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. The mammalian rhomboid protein RHBDL4 protects against endoplasmic reticulum stress by regulating the morphology and distribution of ER sheets. Lastun VL, et al. J Biol Chem, 2022 Jun. PMID 35436469, Free PMC Article
    2. Eta-secretase-like processing of the amyloid precursor protein (APP) by the rhomboid protease RHBDL4. Penalva YCM, et al. J Biol Chem, 2024 Aug. PMID 38992438, Free PMC Article
    3. GC-1 mRHBDD1 knockdown spermatogonia cells lose their spermatogenic capacity in mouse seminiferous tubules. Wang Y, et al. BMC Cell Biol, 2009 Apr 10. PMID 19358743, Free PMC Article
    4. 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
    5. MiR-5195-3p functions as a tumor suppressor by targeting RHBDD1 in ovarian cancer. Wang Z, et al. Histol Histopathol, 2023 Dec. PMID 36825753

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiR-5195-3p functions as a tumor suppressor by targeting RHBDD1 in ovarian cancer.
      Title: MiR-5195-3p functions as a tumor suppressor by targeting RHBDD1 in ovarian cancer.
    2. Findings suggest that mRHBDD1 may be associated with mammalian spermatogenesis.
      Title: GC-1 mRHBDD1 knockdown spermatogonia cells lose their spermatogenic capacity in mouse seminiferous tubules.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC7809

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables serine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ERAD pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to unfolded protein IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to unfolded protein IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane protein intracellular domain proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane protein proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in membrane protein proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of protein processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in post-translational protein modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in regulation of male germ cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum quality control compartment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rhomboid-related protein 4
    Names
    rhomboid domain-containing protein 1
    rhomboid-like protein 4
    NP_001116157.1
    NP_084053.3
    XP_006496637.1
    XP_011237016.1
    XP_030099382.1

    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_001122685.2 → NP_001116157.1  rhomboid-related protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001116157.1

      Status: VALIDATED

      Source sequence(s)
      AC137845, AC160543
      Consensus CDS
      CCDS15097.1
      UniProtKB/Swiss-Prot
      Q8BHC7, Q99K13, Q9D5L8
      Related
      ENSMUSP00000137770.2, ENSMUST00000140020.2
      Conserved Domains (1) summary
      cl21536
      Location:65 → 206
      Rhomboid; Rhomboid family

    2. NM_001432014.1 → NP_001418943.1  rhomboid-related protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC137845, AC160543
      UniProtKB/Swiss-Prot
      Q8BHC7, Q99K13, Q9D5L8

    3. NM_001432015.1 → NP_001418944.1  rhomboid-related protein 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC137845, AC160543

    4. NM_029777.4 → NP_084053.3  rhomboid-related protein 4 isoform 1

      See identical proteins and their annotated locations for NP_084053.3

      Status: VALIDATED

      Source sequence(s)
      AC137845, AC160543
      Consensus CDS
      CCDS15097.1
      UniProtKB/Swiss-Prot
      Q8BHC7, Q99K13, Q9D5L8
      Related
      ENSMUSP00000027322.8, ENSMUST00000027322.14
      Conserved Domains (1) summary
      cl21536
      Location:65 → 206
      Rhomboid; Rhomboid family

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      82294178..82423087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011238714.3 → XP_011237016.1  rhomboid-related protein 4 isoform X2

      Conserved Domains (1) summary
      cl21536
      Location:65 → 206
      Rhomboid; Rhomboid family

    2. XM_006496574.5 → XP_006496637.1  rhomboid-related protein 4 isoform X1

      Conserved Domains (1) summary
      cl21536
      Location:65 → 206
      Rhomboid; Rhomboid family

    3. XM_030243522.2 → XP_030099382.1  rhomboid-related protein 4 isoform X2

      Conserved Domains (1) summary
      cl21536
      Location:65 → 206
      Rhomboid; Rhomboid family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BHC7.1 GenPept UniProtKB/Swiss-Prot:Q8BHC7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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