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

Summary

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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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)

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB223204 (e-PCR)
- UniSTS:207180

NoName (e-PCR)
- UniSTS:234164

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

EC 3.4.21.105

NP_084053.3

EC 3.4.21.105

XP_006496637.1

EC 3.4.21.105

XP_011237016.1

EC 3.4.21.105

XP_030099382.1

EC 3.4.21.105

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_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
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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

82294178..82423087

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

cl21536
Location:65 → 206

Rhomboid; Rhomboid family
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
XM_030243522.2 → XP_030099382.1 rhomboid-related protein 4 isoform X2

Conserved Domains (1) summary

cl21536
Location:65 → 206

Rhomboid; Rhomboid family