Rc3h1 MGI Mouse Gene Detail - MGI:2685397 - RING CCCH (C3H) domains 1

Symbol

Rc3h1
Name

RING CCCH (C3H) domains 1
Synonyms

5730557L09Rik, roquin

Feature Type

protein coding gene
IDs

MGI:2685397
NCBI Gene: 381305
Alliance

genome feature page
Transcription Start Sites

5 TSS

Sequence Map

Chr1:160733988-160802548 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 69.75 cM
Mapping Data

3 experiments

SNPs within 2kb

1100 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685397	protein coding gene	Chr1:160733981-160802548 (+)
129S1/SvImJ	ENSMUSG00200005575	protein coding gene	Chr1:158228746-158297234 (+)
A/J	ENSMUSG00195021495	protein coding gene	Chr1:157553464-157622126 (+)
AKR/J	ENSMUSG00220012772	protein coding gene	Chr1:157344570-157413148 (+)
BALB/cJ	ENSMUSG00180034352	protein coding gene	Chr1:157786090-157854922 (+)
C3H/HeJ	ENSMUSG00175034787	protein coding gene	Chr1:157863953-157932449 (+)
C57BL/6NJ	ENSMUSG00215031739	protein coding gene	Chr1:157752860-157821429 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014756	protein coding gene	Chr1:151529363-151568322 (+)
CAST/EiJ	ENSTCUG00005019729	protein coding gene	Chr1:156386339-156454858 (+)
CBA/J	ENSMUSG00210021003	protein coding gene	Chr1:157761723-157830210 (+)
DBA/2J	ENSMUSG00185040053	protein coding gene	Chr1:162004209-162073045 (+)
FVB/NJ	ENSMUSG00205009318	protein coding gene	Chr1:156846994-156915566 (+)
JF1/MsJ	ENSUMUG00000019542	protein coding gene	Chr1:161164939-161233788 (+)
LP/J	ENSMUSG00230014348	protein coding gene	Chr1:161630156-161698633 (+)
NOD/ShiLtJ	ENSMUSG00190031850	protein coding gene	Chr1:157591461-157660012 (+)
NZO/HlLtJ	ENSMUSG00225004088	protein coding gene	Chr1:165240783-165309336 (+)
PWK/PhJ	ENSLUMG00010041553	protein coding gene	Chr1:156550134-156618899 (+)
SPRET/EiJ	ENSMSPG00010041024	protein coding gene	Chr1:159962869-160031957 (+)
WSB/EiJ	ENSIUOG00005014909	protein coding gene	Chr1:157150647-157219108 (+)

Human Ortholog

RC3H1, ring finger and CCCH-type domains 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RC3H1, ring finger and CCCH-type domains 1
Synonyms

FHL6, IMDSHY, RNF198, ROQUIN
Links

HGNC:29434

NCBI Gene ID: 149041

UniProt: Q5TC82
Chr Location

1q25.1; chr1:173931084-174022357 (-) GRCh38

MGI Vertebrate Homology

Rc3h1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: RC3H1
Gene Tree

Rc3h1

Diseases

2 with Rc3h1 mouse models

Human Disease

Mouse Models

peripheral T-cell lymphoma

IDs

View 1 model

systemic lupus erythematosus

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

64 phenotypes from 6 alleles in 11 genetic backgrounds
22 phenotypes from multigenic genotypes
6 images
54 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

25
Chemically induced (ENU)

2
Chemically induced (other)

2
Endonuclease-mediated

6
Gene trapped

5
Targeted

10
Genomic Mutations

2 involving Rc3h1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

41 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

A single recessive mutation on this gene resulted in severe autoimmune disease with phenotype resembling human systemic lupus erythematosus.

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All GO Annotations

93
GO References

20

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

72

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rc3h1

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All Sequences

51
RefSeq

3
UniProt

5
CCDS

CCDS15410.1

Ensembl

ENSMUSG00000040423 (Evidence)
NCBI Gene

381305

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040423	Ensembl Gene Model \| MGI Sequence Detail	68561	C57BL/6J	± kb
transcript	ENSMUST00000161609	Ensembl \| MGI Sequence Detail	11006	Not Applicable
polypeptide	ENSMUSP00000124871	Ensembl \| MGI Sequence Detail	1130	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000013828 roquin-1

(term hierarchy)
PDB

4QI0, 4QI2, 4TXA, 5F5F, 5F5H, 6TQA, 6TQB
EC

2.3.2.27
InterPro Domains

IPR052249 Roquin

IPR048575 Roquin 1/2-like, ROQ domain

IPR041523 Roquin II

IPR000571 Zinc finger, CCCH-type

IPR036855 Zinc finger, CCCH-type superfamily

IPR013083 Zinc finger, RING/FYVE/PHD-type

IPR001841 Zinc finger, RING-type

IPR017907 Zinc finger, RING-type, conserved site
GlyGen

Q4VGL6 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 72

cDNA 72

Microarray probesets 5

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MGI:1917908, MGI:2138726

Summaries

All 95

Diseases 2

Gene Ontology 20

Phenotypes 54
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:376847 Chen L, et al., Rc3h1 negatively regulates osteoclastogenesis by limiting energy metabolism. Theranostics. 2024;14(19):7554-7568

TSS for Rc3h1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr9646	Chr1:160733942-160734030 (+)	-2 bp
Tssr9647	Chr1:160734045-160734070 (+)	70 bp
Tssr9648	Chr1:160768705-160768711 (+)	34,720 bp
Tssr9649	Chr1:160772283-160772299 (+)	38,303 bp
Tssr9650	Chr1:160800179-160800183 (+)	66,193 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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