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

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, 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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

iRhom1 rescues cognitive dysfunction in multiple sclerosis via preventing myelin injury.
Title: iRhom1 rescues cognitive dysfunction in multiple sclerosis via preventing myelin injury.
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.
Role of iRhoms 1 and 2 in Endochondral Ossification.
Title: Role of iRhoms 1 and 2 in Endochondral Ossification.
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).
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (1) 1 citation
Gene trapped (1)
Targeted (9) 1 citation

General gene information

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Markers

Rhbdf1 (e-PCR), detects polymorphism
- UniSTS:472899

Egfr-rs (e-PCR), detects polymorphism
- UniSTS:142973

REN94523 (e-PCR)
- UniSTS:419321

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)

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
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

32159585..32172339 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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
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
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