Rab3gap1 MGI Mouse Gene Detail - MGI:2445001 - RAB3 GTPase activating protein subunit 1

Symbol

Rab3gap1
Name

RAB3 GTPase activating protein subunit 1
Synonyms

1700003B17Rik, 4732493F09Rik, p130

Feature Type

protein coding gene
IDs

MGI:2445001
NCBI Gene: 226407
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr1:127796510-127871605 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 55.80 cM
Mapping Data

2 experiments

SNPs within 2kb

1488 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2445001	protein coding gene	Chr1:127796492-127871612 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016424	protein coding gene	Chr1:131096100-131163416 (+)
A/J	MGP_AJ_G0016407	protein coding gene	Chr1:126209701-126274314 (+)
AKR/J	MGP_AKRJ_G0016372	protein coding gene	Chr1:129921071-129989238 (+)
BALB/cJ	MGP_BALBcJ_G0016367	protein coding gene	Chr1:126586024-126649314 (+)
C3H/HeJ	MGP_C3HHeJ_G0016193	protein coding gene	Chr1:130115374-130182005 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016828	protein coding gene	Chr1:136020347-136093399 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014541	protein coding gene	Chr1:119567744-119631656 (+)
CAST/EiJ	MGP_CASTEiJ_G0015774	protein coding gene	Chr1:129078209-129142368 (+)
CBA/J	MGP_CBAJ_G0016166	protein coding gene	Chr1:140610296-140680553 (+)
DBA/2J	MGP_DBA2J_G0016272	protein coding gene	Chr1:125245682-125308616 (+)
FVB/NJ	MGP_FVBNJ_G0016271	protein coding gene	Chr1:123962233-124024726 (+)
LP/J	MGP_LPJ_G0016343	protein coding gene	Chr1:132446232-132512080 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016296	protein coding gene	Chr1:146467867-146533241 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016864	protein coding gene	Chr1:129711904-129784226 (+)
PWK/PhJ	MGP_PWKPhJ_G0015560	protein coding gene	Chr1:124220584-124284961 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015348	protein coding gene	Chr1:128663817-128727771 (+)
WSB/EiJ	MGP_WSBEiJ_G0015836	protein coding gene	Chr1:129667277-129732876 (+)

Human Ortholog

RAB3GAP1, RAB3 GTPase activating protein catalytic subunit 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RAB3GAP1, RAB3 GTPase activating protein catalytic subunit 1
Synonyms

MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1
Links

HGNC:17063

NCBI Gene ID: 22930

neXtProt AC: NX_Q15042

UniProt: Q15042
Chr Location

2q21.3; chr2:135052289-135176667 (+) GRCh38

MGI Vertebrate Homology

Rab3gap1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RAB3GAP1
Gene Tree

Rab3gap1

Diseases

1 with human RAB3GAP1 associations

				Human Disease	Mouse Models
				Warburg micro syndrome 1 IDs Warburg micro syndrome 1 DOID:0110716 ICD10CM:Q87.0 OMIM:600118

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

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Phenotype Summary

8 phenotypes from 2 alleles in 2 genetic backgrounds
10 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

7
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

2
Radiation induced

1
Targeted

1
Genomic Mutations

3 involving Rab3gap1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology.

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All GO Annotations

38
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

724
Tissues

12
cDNA Data

14
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rab3gap1

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All Sequences

62
RefSeq

9
UniProt

3
CCDS

CCDS15249.1

Ensembl

ENSMUSG00000036104 (Evidence)
NCBI Gene

226407

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036104	Ensembl Gene Model \| MGI Sequence Detail	75096	C57BL/6J	± kb
transcript	ENSMUST00000212506	Ensembl \| MGI Sequence Detail	2967	Not Applicable
polypeptide	ENSMUSP00000148357	Ensembl \| MGI Sequence Detail	988	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000013621 Rab3 GTPase-activating protein catalytic subunit

(term hierarchy)
InterPro Domains

IPR045700 Rab3GAP catalytic subunit

IPR026147 Rab3GAP catalytic subunit, conserved domain

IPR045698 Rab3GAP catalytic subunit, C-terminal

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All nucleic 16

cDNA 16

Microarray probesets 3

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MGI:1916596, MGI:3034589

Summaries

All 40

Developmental Gene Expression 1

Gene Ontology 8

Phenotypes 10
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Rab3gap1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr8494	Chr1:127796508-127796517 (+)	3 bp
Tssr8495	Chr1:127796521-127796544 (+)	23 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 11/12/2024 MGI 6.24