Gdi1 MGI Mouse Gene Detail - MGI:99846 - GDP dissociation inhibitor 1

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Gdi1 Gene Detail

Symbol

Gdi1
Name

GDP dissociation inhibitor 1
Synonyms

GDIA, MGC:21593, Rab GDIalpha

Feature Type

protein coding gene
IDs

MGI:99846
NCBI Gene: 14567
Alliance

gene page
Transcription Start Sites

13 TSS
Candidate for QTL

3 QTL

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Sequence Map

ChrX:73348618-73355473 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 37.97 cM, cytoband B-C1
Mapping Data

3 experiments

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SNPs within 2kb

167 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_99846	protein coding gene	ChrX:73348604-73355473 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035840	protein coding gene	ChrX:70104460-70111326 (+)
A/J	MGP_AJ_G0035821	protein coding gene	ChrX:70289160-70296340 (+)
AKR/J	MGP_AKRJ_G0035746	protein coding gene	ChrX:72190937-72197973 (+)
BALB/cJ	MGP_BALBcJ_G0035806	protein coding gene	ChrX:69315345-69322911 (+)
C3H/HeJ	MGP_C3HHeJ_G0035511	protein coding gene	ChrX:70579136-70586152 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036336	protein coding gene	ChrX:72264835-72273806 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033180	protein coding gene	ChrX:69355170-69362252 (+)
CAST/EiJ	MGP_CASTEiJ_G0034802	protein coding gene	ChrX:55958455-55968848 (+)
CBA/J	MGP_CBAJ_G0035486	protein coding gene	ChrX:74261465-74272343 (+)
DBA/2J	MGP_DBA2J_G0035643	protein coding gene	ChrX:69749148-69756170 (+)
FVB/NJ	MGP_FVBNJ_G0035587	protein coding gene	ChrX:69091923-69100305 (+)
LP/J	MGP_LPJ_G0035728	protein coding gene	ChrX:70883806-70890638 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035625	protein coding gene	ChrX:76824907-76833817 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036358	protein coding gene	ChrX:69920945-69928916 (+)
PWK/PhJ	MGP_PWKPhJ_G0034501	protein coding gene	ChrX:53920773-53927997 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034335	protein coding gene	ChrX:56828645-56835447 (+)
WSB/EiJ	MGP_WSBEiJ_G0034943	protein coding gene	ChrX:69204925-69213562 (+)

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Human Ortholog

GDI1, GDP dissociation inhibitor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GDI1, GDP dissociation inhibitor 1
Synonyms

1A, GDIL, MRX41, MRX48, OPHN2, RABGD1A, RABGDIA, XAP-4, XLID41
Links

HGNC:4226

NCBI Gene ID: 2664

neXtProt AC: NX_P31150

UniProt: P31150
Chr Location

Xq28; chrX:154436913-154443467 (+) GRCh38

MGI Vertebrate Homology

Gdi1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GDI1
Gene Tree

Gdi1

more

Diseases

1 with Gdi1 mouse models; 3 with human GDI1 associations

Human Disease

Mouse Models

Human and Mouse genes associated with disease

Human and Mouse genes associated with disease

non-syndromic X-linked intellectual disability

IDs

View 1 model

Human gene associated with disease

non-syndromic X-linked intellectual disability 41

IDs

psychotic disorder

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

14 phenotypes from 2 alleles in 3 genetic backgrounds
12 phenotype references

Phenotype Overview

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

10
Endonuclease-mediated

3
Gene trapped

2
Spontaneous

1
Targeted

4
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Males hemizygous for a reporter allele show lower male aggression, short-term memory defects, altered synaptic vesicle pools and short-term synaptic plasticity, and impaired glutamate release. Homozygotes for a null allele show enhanced paired-pulse facilitation and sensitivity to induced seizures.

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All GO Annotations

37
GO References

9

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

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

814
Tissues

50
cDNA Data

252
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gdi1

ZFIN gdi1

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All Sequences

61
RefSeq

2
UniProt

3
CCDS

CCDS30227.1

Ensembl

ENSMUSG00000015291 (Evidence)
NCBI Gene

14567

Representative Sequences				Length	Strain/Species	Flank
	genomic	14567	NCBI Gene Model \| MGI Sequence Detail	6856	C57BL/6J	± kb
	transcript	NM_010273	RefSeq \| MGI Sequence Detail	2657	ZRU/MplStud
	polypeptide	P50396	UniProt \| EBI \| MGI Sequence Detail	447	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000007926 Rab GDP dissociation inhibitor alpha

(term hierarchy)
InterPro Domains

IPR036188 FAD/NAD(P)-binding domain superfamily

IPR018203 GDP dissociation inhibitor

IPR000806 Rab GDI protein
GlyGen

P50396 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 257

cDNA 257

Microarray probesets 3

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MGD-MRK-16637

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Summaries

All 53

Developmental Gene Expression 4

Diseases 1

Gene Ontology 9

Phenotypes 12
Earliest

J:17786 Shisheva A, et al., Cloning, characterization, and expression of a novel GDP dissociation inhibitor isoform from skeletal muscle. Mol Cell Biol. 1994 May;14(5):3459-68
Latest

J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Gdi1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161327	ChrX:73347422-73347439 (+)	-1,187 bp
Tssr161328	ChrX:73347450-73347494 (+)	-1,146 bp
Tssr161329	ChrX:73347544-73347590 (+)	-1,051 bp
Tssr161330	ChrX:73347631-73347642 (+)	-981 bp
Tssr161331	ChrX:73347766-73347777 (+)	-846 bp
Tssr161332	ChrX:73347778-73347797 (+)	-830 bp
Tssr161333	ChrX:73348598-73348642 (+)	2 bp
Tssr161334	ChrX:73348698-73348712 (+)	87 bp
Tssr161335	ChrX:73348845-73348884 (+)	247 bp
Tssr161336	ChrX:73350789-73350802 (+)	2,178 bp
Tssr161337	ChrX:73352695-73352711 (+)	4,085 bp
Tssr161338	ChrX:73353558-73353578 (+)	4,950 bp
Tssr161339	ChrX:73354612-73354625 (+)	6,001 bp

Gdi1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bw19	ChrX, 24.88 cM	ChrX:46376920-52412327	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome X, Atp6ap1 (29.8 cM), Flna (29.8 cM), and Gdi1 (29.8 cM) all show differential expression between A/a and A/A animals on the restricted diet. Diabesity QTLs Bw19 (26.4 cM) and C10bw6 (32 cM) map near these candidate genes. Jarid1c (64 cM) shows differential expression between the restricted and unrestricted diets on the A/A background. Diabesity QTL Dob7 (59.5 cM) maps near Jarid1c.
C10bw6	ChrX, 30.84 cM		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome X, Atp6ap1 (29.8 cM), Flna (29.8 cM), and Gdi1 (29.8 cM) all show differential expression between A/a and A/A animals on the restricted diet. Diabesity QTLs Bw19 (26.4 cM) and C10bw6 (32 cM) map near these candidate genes. Jarid1c (64 cM) shows differential expression between the restricted and unrestricted diets on the A/A background. Diabesity QTL Dob7 (59.5 cM) maps near Jarid1c.
Dob7	ChrX, 57.38 cM		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome X, Atp6ap1 (29.8 cM), Flna (29.8 cM), and Gdi1 (29.8 cM) all show differential expression between A/a and A/A animals on the restricted diet. Diabesity QTLs Bw19 (26.4 cM) and C10bw6 (32 cM) map near these candidate genes. Jarid1c (64 cM) shows differential expression between the restricted and unrestricted diets on the A/A background. Diabesity QTL Dob7 (59.5 cM) maps near Jarid1c.

*cM position of peak correlated region/marker

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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