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

Gene ID: 76867, updated on 5-Apr-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. Is integral component of endoplasmic reticulum membrane. Orthologous to human RHBDD1 (rhomboid domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
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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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. 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
  3. A novel member of the Rhomboid family, RHBDD1, regulates BIK-mediated apoptosis. Wang Y, et al. Cell Mol Life Sci, 2008 Nov. PMID 18953687
  4. Exosome-related multi-pass transmembrane protein TSAP6 is a target of rhomboid protease RHBDD1-induced proteolysis. Wan C, et al. PLoS One, 2012. PMID 22624035, Free PMC Article
  5. Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. Fleig L, et al. Mol Cell, 2012 Aug 24. PMID 22795130

See all (20) 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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
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 
enables serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in ERAD pathway IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell differentiation 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 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
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 membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion 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_001122685.1 → NP_001116157.1  rhomboid-related protein 4

    See identical proteins and their annotated locations for NP_001116157.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different segment for its 5' UTR UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK076751, AK142277, CF616726
    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_029777.3 → NP_084053.3  rhomboid-related protein 4

    See identical proteins and their annotated locations for NP_084053.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the more frequently occurring transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK142277, BY324588, CF616726
    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

    See identical proteins and their annotated locations for XP_006496637.1

    UniProtKB/Swiss-Prot
    Q8BHC7, Q99K13, Q9D5L8
    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

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