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    Rhbdf1 rhomboid 5 homolog 1 [ Mus musculus (house mouse) ]

    Gene ID: 13650, updated on 9-Dec-2024

    Summary

    Official Symbol
    Rhbdf1provided by MGI
    Official Full Name
    rhomboid 5 homolog 1provided by MGI
    Primary source
    MGI:MGI:104328
    See related
    Ensembl:ENSMUSG00000020282 AllianceGenome:MGI:104328
    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
    Dist; Dist1; C16ORF8; Egfr-rs; mKIAA4242
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to be involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Predicted to be located in Golgi membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; early conceptus; eye; and genitourinary system. Orthologous to human RHBDF1 (rhomboid 5 homolog 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 45.8), lung adult (RPKM 41.4) and 26 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Rhbdf1 in Genome Data Viewer
    Location:
    11 A4; 11 18.83 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (32159585..32172339, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (32209585..32222331, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene 12109 Neighboring gene interleukin 9 receptor Neighboring gene STARR-positive B cell enhancer ABC_E730 Neighboring gene small nuclear ribonucleoprotein 25 (U11/U12) Neighboring gene STARR-positive B cell enhancer ABC_E11473 Neighboring gene alpha-globin locus regulatory region Neighboring gene N-methylpurine-DNA glycosylase Neighboring gene nitrogen permease regulator-like 3 Neighboring gene hemoglobin X, alpha-like embryonic chain in Hba complex

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    General gene information

    Markers

    Clone Names

    • KIAA4242

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT 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 cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of protein secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of epidermal growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of epidermal growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of proteasomal protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of proteasomal protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein secretion ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    inactive rhomboid protein 1
    Names
    epidermal growth factor receptor related sequence
    epidermal growth factor receptor-related protein
    iRhom1
    rhomboid family 1
    rhomboid family member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001291818.1NP_001278747.1  inactive rhomboid protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) use an alternate splice junction at the 5' end of an exon and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK144437, AL929446, AW491627, BY766909
      Conserved Domains (2) summary
      pfam01694
      Location:435576
      Rhomboid; Rhomboid family
      pfam12595
      Location:195
      Rhomboid_SP; Rhomboid serine protease
    2. NM_010117.2NP_034247.2  inactive rhomboid protein 1 isoform 1

      See identical proteins and their annotated locations for NP_034247.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI842763, AK144437, BY270878, BY733688, CD554689, CN664154
      Consensus CDS
      CCDS24519.1
      UniProtKB/Swiss-Prot
      A2AVE2, Q04843, Q5DTF4, Q6PIX5, Q6PJ49, Q8VIK0
      Related
      ENSMUSP00000020524.9, ENSMUST00000020524.15
      Conserved Domains (2) summary
      pfam01694
      Location:651791
      Rhomboid; Rhomboid family
      pfam12595
      Location:91308
      Rhomboid_SP; Rhomboid serine protease

    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
      32159585..32172339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514499.5XP_006514562.1  inactive rhomboid protein 1 isoform X4

      Conserved Domains (2) summary
      pfam12595
      Location:91308
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:651714
      Rhomboid; Rhomboid family
    2. XM_006514494.5XP_006514557.1  inactive rhomboid protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006514557.1

      Conserved Domains (2) summary
      pfam12595
      Location:126343
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:686749
      Rhomboid; Rhomboid family
    3. XM_006514495.5XP_006514558.1  inactive rhomboid protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006514558.1

      Conserved Domains (2) summary
      pfam12595
      Location:126343
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:686749
      Rhomboid; Rhomboid family
    4. XM_006514501.5XP_006514564.1  inactive rhomboid protein 1 isoform X6

      Conserved Domains (2) summary
      pfam12595
      Location:195
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:438501
      Rhomboid; Rhomboid family
    5. XM_030245523.2XP_030101383.1  inactive rhomboid protein 1 isoform X4

      Conserved Domains (2) summary
      pfam12595
      Location:91308
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:651714
      Rhomboid; Rhomboid family
    6. XM_030245524.2XP_030101384.1  inactive rhomboid protein 1 isoform X5

      UniProtKB/Swiss-Prot
      A2AVE2, Q04843, Q5DTF4, Q6PIX5, Q6PJ49, Q8VIK0
      Conserved Domains (2) summary
      pfam01694
      Location:651791
      Rhomboid; Rhomboid family
      pfam12595
      Location:91308
      Rhomboid_SP; Rhomboid serine protease
    7. XM_030245526.2XP_030101386.1  inactive rhomboid protein 1 isoform X8

      Conserved Domains (2) summary
      pfam01694
      Location:379519
      Rhomboid; Rhomboid family
      pfam12595
      Location:136
      Rhomboid_SP; Rhomboid serine protease
    8. XM_006514496.3XP_006514559.1  inactive rhomboid protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006514559.1

      Conserved Domains (2) summary
      pfam12595
      Location:126343
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:686749
      Rhomboid; Rhomboid family
    9. XM_036156289.1XP_036012182.1  inactive rhomboid protein 1 isoform X2

      Conserved Domains (2) summary
      pfam12595
      Location:139356
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:696762
      Rhomboid; Rhomboid family
    10. XM_030245525.2XP_030101385.1  inactive rhomboid protein 1 isoform X5

      UniProtKB/Swiss-Prot
      A2AVE2, Q04843, Q5DTF4, Q6PIX5, Q6PJ49, Q8VIK0
      Conserved Domains (2) summary
      pfam01694
      Location:651791
      Rhomboid; Rhomboid family
      pfam12595
      Location:91308
      Rhomboid_SP; Rhomboid serine protease
    11. XM_011243658.2XP_011241960.1  inactive rhomboid protein 1 isoform X1

      Conserved Domains (2) summary
      pfam01694
      Location:686826
      Rhomboid; Rhomboid family
      pfam12595
      Location:126343
      Rhomboid_SP; Rhomboid serine protease
    12. XM_006514503.2XP_006514566.1  inactive rhomboid protein 1 isoform X7

      Conserved Domains (2) summary
      pfam12595
      Location:136
      Rhomboid_SP; Rhomboid serine protease
      cl21536
      Location:379442
      Rhomboid; Rhomboid family

    RNA

    1. XR_004936735.1 RNA Sequence

      Related
      ENSMUST00000146179.8
    2. XR_001779873.2 RNA Sequence

    3. XR_004936734.1 RNA Sequence

    4. XR_872202.3 RNA Sequence