Rhbdd1 MGI Mouse Gene Detail - MGI:1924117 - rhomboid domain containing 1

Symbol

Rhbdd1
Name

rhomboid domain containing 1
Synonyms

4930418P06Rik

Feature Type

protein coding gene
IDs

MGI:1924117
NCBI Gene: 76867
Alliance

genome feature page
Transcription Start Sites

6 TSS

Sequence Map

Chr1:82294178-82423087 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 42.08 cM, cytoband C5
Mapping Data

3 experiments

SNPs within 2kb

3230 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924117	protein coding gene	Chr1:82294173-82423087 (+)
129S1/SvImJ	ENSMUSG00200031789	protein coding gene	Chr1:79967452-80096373 (+)
A/J	ENSMUSG00195010276	protein coding gene	Chr1:79370627-79499554 (+)
AKR/J	ENSMUSG00220010331	protein coding gene	Chr1:79564494-79686541 (+)
BALB/cJ	ENSMUSG00180016180	protein coding gene	Chr1:79642341-79771281 (+)
C3H/HeJ	ENSMUSG00175014938	protein coding gene	Chr1:79776845-79905734 (+)
C57BL/6NJ	ENSMUSG00215013512	protein coding gene	Chr1:79690524-79819454 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014326	protein coding gene	Chr1:75515870-75635368 (+)
CAST/EiJ	ENSTCUG00005027657	protein coding gene	Chr1:79376755-79494274 (+)
CBA/J	ENSMUSG00210039525	protein coding gene	Chr1:79562062-79684113 (+)
DBA/2J	ENSMUSG00185029132	protein coding gene	Chr1:80599213-80728140 (+)
FVB/NJ	ENSMUSG00205018832	protein coding gene	Chr1:79112889-79241801 (+)
JF1/MsJ	ENSUMUG00000004447	protein coding gene	Chr1:79424807-79542111 (+)
LP/J	ENSMUSG00230010183	protein coding gene	Chr1:80535429-80664343 (+)
NOD/ShiLtJ	ENSMUSG00190024254	protein coding gene	Chr1:79765668-79887695 (+)
NZO/HlLtJ	ENSMUSG00225003023	protein coding gene	Chr1:83780746-83909660 (+)
PWK/PhJ	ENSLUMG00010012022	protein coding gene	Chr1:79038974-79156294 (+)
SPRET/EiJ	ENSMSPG00010018423	protein coding gene	Chr1:81185228-81300377 (+)
WSB/EiJ	no annotation

Human Ortholog

RHBDD1, rhomboid domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RHBDD1, rhomboid domain containing 1
Synonyms

RHBDL4, RRP4
Links

HGNC:23081

NCBI Gene ID: 84236

UniProt: Q8TEB9
Chr Location

2q36.3; chr2:226800159-226999215 (+) GRCh38

MGI Vertebrate Homology

Rhbdd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RHBDD1
Gene Tree

Rhbdd1

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
16 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

17
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

8
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Rhbdd1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

16 strains or lines available

Mice homozygous for a knock-out allele exhibit increased tunicamycin-induced endoplasmic reticulum stress with significant weight loss and hepatic steatosis, and an increased inflammatory response and reduced survival in response to LPS injection.

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All GO Annotations

48
GO References

11

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

597
cDNA Data

57

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rhbdd1

ZFIN rhbdd1

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All Sequences

52
RefSeq

12
UniProt

2
CCDS

CCDS15097.1

Ensembl

ENSMUSG00000026142 (Evidence)
NCBI Gene

76867

			Length	Strain/Species	Flank
genomic	76867	NCBI Gene Model \| MGI Sequence Detail	128910	C57BL/6J	± kb
transcript	NM_001122685	RefSeq \| MGI Sequence Detail	3630	C57BL/6
polypeptide	Q8BHC7	UniProt \| EBI \| MGI Sequence Detail	315	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000029721 rhomboid domain-containing protein 1

(term hierarchy)
EC

3.4.21.105
InterPro Domains

IPR022764 Peptidase S54, rhomboid domain

IPR035952 Rhomboid-like superfamily

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All nucleic 58

cDNA 58

Microarray probesets 3

Summaries

All 48

Gene Ontology 11

Phenotypes 16
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:359044 Penalva YCM, et al., Eta-secretase-like processing of the amyloid precursor protein (APP) by the rhomboid protease RHBDL4. J Biol Chem. 2024 Jul 9;300(8):107541

TSS for Rhbdd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7608	Chr1:82294288-82294351 (+)	142 bp
Tssr7609	Chr1:82294366-82294377 (+)	194 bp
Tssr7610	Chr1:82294384-82294395 (+)	212 bp
Tssr7611	Chr1:82316799-82316807 (+)	22,625 bp
Tssr7612	Chr1:82316808-82316836 (+)	22,644 bp
Tssr7613	Chr1:82320709-82320719 (+)	26,536 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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