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

Gene ID: 13650, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in ovary adult (RPKM 45.8), lung adult (RPKM 41.4) and 26 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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. iRhom1 rescues cognitive dysfunction in multiple sclerosis via preventing myelin injury. Sun H, et al. Genes Brain Behav, 2021 Nov. PMID 34672089
  2. Mammalian iRhoms have distinct physiological functions including an essential role in TACE regulation. Christova Y, et al. EMBO Rep, 2013 Oct. PMID 23969955, Free PMC Article
  3. Genes adapt to outsmart gene-targeting strategies in mutant mouse strains by skipping exons to reinitiate transcription and translation. Hosur V, et al. Genome Biol, 2020 Jul 9. PMID 32646486, Free PMC Article
  4. RHBDF1 regulates APC-mediated stimulation of the epithelial-to-mesenchymal transition and proliferation of colorectal cancer cells in part via the Wnt/β-catenin signalling pathway. Yuan H, et al. Exp Cell Res, 2018 Jul 1. PMID 29654741
  5. Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice. Rabinowitsch AI, et al. J Cell Sci, 2023 Jul 1. PMID 37282854, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. iRhom1 rescues cognitive dysfunction in multiple sclerosis via preventing myelin injury.
    Title: iRhom1 rescues cognitive dysfunction in multiple sclerosis via preventing myelin injury.
  2. The pseudoprotease iRhom1 controls ectodomain shedding of membrane proteins in the nervous system.
    Title: The pseudoprotease iRhom1 controls ectodomain shedding of membrane proteins in the nervous system.
  3. Role of iRhoms 1 and 2 in Endochondral Ossification.
    Title: Role of iRhoms 1 and 2 in Endochondral Ossification.
  4. ADAM17 stabilizes its interacting partner inactive Rhomboid 2 (iRhom2) but not inactive Rhomboid 1 (iRhom1).
    Title: ADAM17 stabilizes its interacting partner inactive Rhomboid 2 (iRhom2) but not inactive Rhomboid 1 (iRhom1).
  5. that the regulatory effects of RHBDF1 on epithelial-to-mesenchymal transition and on cell proliferation are partially attributable to the Wnt/beta-catenin signalling pathway
    Title: RHBDF1 regulates APC-mediated stimulation of the epithelial-to-mesenchymal transition and proliferation of colorectal cancer cells in part via the Wnt/β-catenin signalling pathway.
  6. a principal function of iRhoms1/2 during mouse development is to regulate ADAM17-dependent EGFR signaling
    Title: iRhoms 1 and 2 are essential upstream regulators of ADAM17-dependent EGFR signaling.
  7. iRhom1 knockout mice have a severe phenotype, impaired TACE maturation and die within 6 weeks of birth.
    Title: Mammalian iRhoms have distinct physiological functions including an essential role in TACE regulation.
Submit: New GeneRIF Correction

Variation

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Alleles

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

General gene information

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Markers

Homology

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

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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)

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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_001291818.1 → NP_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:435 → 576
    Rhomboid; Rhomboid family
    pfam12595
    Location:1 → 95
    Rhomboid_SP; Rhomboid serine protease

  2. NM_010117.2 → NP_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:651 → 791
    Rhomboid; Rhomboid family
    pfam12595
    Location:91 → 308
    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_006514499.5 → XP_006514562.1  inactive rhomboid protein 1 isoform X4

    Conserved Domains (2) summary
    pfam12595
    Location:91 → 308
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:651 → 714
    Rhomboid; Rhomboid family

  2. XM_006514494.5 → XP_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:126 → 343
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:686 → 749
    Rhomboid; Rhomboid family

  3. XM_006514495.5 → XP_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:126 → 343
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:686 → 749
    Rhomboid; Rhomboid family

  4. XM_006514501.5 → XP_006514564.1  inactive rhomboid protein 1 isoform X6

    Conserved Domains (2) summary
    pfam12595
    Location:1 → 95
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:438 → 501
    Rhomboid; Rhomboid family

  5. XM_030245523.2 → XP_030101383.1  inactive rhomboid protein 1 isoform X4

    Conserved Domains (2) summary
    pfam12595
    Location:91 → 308
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:651 → 714
    Rhomboid; Rhomboid family

  6. XM_030245524.2 → XP_030101384.1  inactive rhomboid protein 1 isoform X5

    UniProtKB/Swiss-Prot
    A2AVE2, Q04843, Q5DTF4, Q6PIX5, Q6PJ49, Q8VIK0
    Conserved Domains (2) summary
    pfam01694
    Location:651 → 791
    Rhomboid; Rhomboid family
    pfam12595
    Location:91 → 308
    Rhomboid_SP; Rhomboid serine protease

  7. XM_030245526.2 → XP_030101386.1  inactive rhomboid protein 1 isoform X8

    Conserved Domains (2) summary
    pfam01694
    Location:379 → 519
    Rhomboid; Rhomboid family
    pfam12595
    Location:1 → 36
    Rhomboid_SP; Rhomboid serine protease

  8. XM_006514496.3 → XP_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:126 → 343
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:686 → 749
    Rhomboid; Rhomboid family

  9. XM_036156289.1 → XP_036012182.1  inactive rhomboid protein 1 isoform X2

    Conserved Domains (2) summary
    pfam12595
    Location:139 → 356
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:696 → 762
    Rhomboid; Rhomboid family

  10. XM_030245525.2 → XP_030101385.1  inactive rhomboid protein 1 isoform X5

    UniProtKB/Swiss-Prot
    A2AVE2, Q04843, Q5DTF4, Q6PIX5, Q6PJ49, Q8VIK0
    Conserved Domains (2) summary
    pfam01694
    Location:651 → 791
    Rhomboid; Rhomboid family
    pfam12595
    Location:91 → 308
    Rhomboid_SP; Rhomboid serine protease

  11. XM_011243658.2 → XP_011241960.1  inactive rhomboid protein 1 isoform X1

    Conserved Domains (2) summary
    pfam01694
    Location:686 → 826
    Rhomboid; Rhomboid family
    pfam12595
    Location:126 → 343
    Rhomboid_SP; Rhomboid serine protease

  12. XM_006514503.2 → XP_006514566.1  inactive rhomboid protein 1 isoform X7

    Conserved Domains (2) summary
    pfam12595
    Location:1 → 36
    Rhomboid_SP; Rhomboid serine protease
    cl21536
    Location:379 → 442
    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

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PIX5.2 GenPept UniProtKB/Swiss-Prot:Q6PIX5

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