Arhgef1 MGI Mouse Gene Detail - MGI:1353510 - Rho guanine nucleotide exchange factor 1

Symbol

Arhgef1
Name

Rho guanine nucleotide exchange factor 1
Synonyms

Lbcl2, Lsc

Feature Type

protein coding gene
IDs

MGI:1353510
NCBI Gene: 16801
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr7:24602337-24626019 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 13.52 cM
Mapping Data

1 experiment

SNPs within 2kb

477 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353510	protein coding gene	Chr7:24601762-24626019 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031848	protein coding gene	Chr7:23312990-23337704 (+)
A/J	MGP_AJ_G0031827	protein coding gene	Chr7:22740898-22764996 (+)
AKR/J	MGP_AKRJ_G0031756	protein coding gene	Chr7:23273521-23295001 (+)
BALB/cJ	MGP_BALBcJ_G0031835	protein coding gene	Chr7:22945504-22967682 (+)
C3H/HeJ	MGP_C3HHeJ_G0031553	protein coding gene	Chr7:23687237-23709729 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032296	protein coding gene	Chr7:24087094-24124486 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029351	protein coding gene	Chr7:24173612-24193915 (+)
CAST/EiJ	MGP_CASTEiJ_G0030893	protein coding gene	Chr7:17165471-17186771 (+)
CBA/J	MGP_CBAJ_G0031518	protein coding gene	Chr7:24974946-24999770 (+)
DBA/2J	MGP_DBA2J_G0031672	protein coding gene	Chr7:22645955-22667625 (+)
FVB/NJ	MGP_FVBNJ_G0031625	protein coding gene	Chr7:22624846-22648361 (+)
LP/J	MGP_LPJ_G0031751	protein coding gene	Chr7:23625533-23647989 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031662	protein coding gene	Chr7:24710324-24733999 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032328	protein coding gene	Chr7:22971128-22992036 (+)
PWK/PhJ	MGP_PWKPhJ_G0030617	protein coding gene	Chr7:17573751-17595718 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030448	protein coding gene	Chr7:14284524-14305659 (+)
WSB/EiJ	MGP_WSBEiJ_G0030997	protein coding gene	Chr7:23134284-23156214 (+)

Human Ortholog

ARHGEF1, Rho guanine nucleotide exchange factor 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ARHGEF1, Rho guanine nucleotide exchange factor 1
Synonyms

GEF1, IMD62, LBCL2, LSC, P115-RHOGEF, SUB1.5
Links

HGNC:681

NCBI Gene ID: 9138

neXtProt AC: NX_Q92888

UniProt: Q92888
Chr Location

19q13.2; chr19:41883173-41930150 (+) GRCh38

MGI Vertebrate Homology

Arhgef1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ARHGEF1
Gene Tree

Arhgef1

Diseases

1 with human ARHGEF1 associations

				Human Disease	Mouse Models
				immunodeficiency 62 IDs immunodeficiency 62 DOID:0111991 OMIM:618459 UMLS_CUI:C5193109

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

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Phenotype Summary

44 phenotypes from 5 alleles in 6 genetic backgrounds
1 phenotype from multigenic genotypes
30 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

19
Endonuclease-mediated

3
Gene trapped

11
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

73 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in impaired humeral immunity, reduced numbers of marginal zone B (MZB) cells, decreased basal T cell proliferation, and reduced basal motility of lymphocytes but enhanced migration of MZB cells after serum activation.

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All GO Annotations

15
GO References

8

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

741
Tissues

22
cDNA Data

150
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase arhgef1

ZFIN arhgef1

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All Sequences

129
RefSeq

41
UniProt

10
CCDS

CCDS52140.1, CCDS52141.1, CCDS52142.1, CCDS85239.1

Ensembl

ENSMUSG00000040940 (Evidence)
NCBI Gene

16801

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040940	Ensembl Gene Model \| MGI Sequence Detail	23683	C57BL/6J	± kb
transcript	ENSMUST00000098683	Ensembl \| MGI Sequence Detail	3375	Not Applicable
polypeptide	ENSMUSP00000096280	Ensembl \| MGI Sequence Detail	979	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000004245 Rho guanine nucleotide exchange factor 1

(term hierarchy)
InterPro Domains

IPR041020 ARHGEF1-like, PH domain

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR037887 p115RhoGEF, RGS domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR015212 Regulator of G protein signalling-like domain

IPR036305 RGS domain superfamily

IPR044926 RGS, subdomain 2
GlyGen

Q61210 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 152

Genomic 1

cDNA 151

Microarray probesets 4

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MGD-MRK-37468, MGI:108425

Summaries

All 68

Developmental Gene Expression 5

Gene Ontology 8

Phenotypes 30
Earliest

J:34523 Whitehead IP, et al., Expression cloning of lsc, a novel oncogene with structural similarities to the Dbl family of guanine nucleotide exchange factors. J Biol Chem. 1996 Aug 2;271(31):18643-50
Latest

J:346729 Liu D, et al., Dynamic encounters with red blood cells trigger splenic marginal zone B cell retention and function. Nat Immunol. 2024 Jan;25(1):142-154

TSS for Arhgef1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr65065	Chr7:24600856-24600869 (+)	-1,474 bp
Tssr65066	Chr7:24602378-24602388 (+)	46 bp
Tssr65067	Chr7:24602436-24602505 (+)	134 bp
Tssr65068	Chr7:24603662-24603677 (+)	1,333 bp
Tssr65069	Chr7:24603764-24603776 (+)	1,433 bp
Tssr65070	Chr7:24603781-24603802 (+)	1,455 bp
Tssr65071	Chr7:24603809-24603836 (+)	1,486 bp
Tssr65072	Chr7:24603841-24603884 (+)	1,526 bp
Tssr65073	Chr7:24606731-24606751 (+)	4,404 bp
Tssr65074	Chr7:24606758-24606769 (+)	4,427 bp
Tssr65075	Chr7:24607043-24607057 (+)	4,713 bp
Tssr65076	Chr7:24607094-24607157 (+)	4,789 bp
Tssr65077	Chr7:24617340-24617353 (+)	15,010 bp
Tssr65078	Chr7:24618064-24618073 (+)	15,732 bp
Tssr65079	Chr7:24618213-24618224 (+)	15,882 bp
Tssr65080	Chr7:24618256-24618271 (+)	15,927 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24