• Gene id: 2664

Gene Summary

• Gene Symbol: GDI1   Gene   UCSC   Ensembl
• Aliases: 1A, GDIL, MRX41, MRX48, OPHN2, RABGD1A, RABGDIA, XAP-4
• Gene name: GDP dissociation inhibitor 1
• Alternate names: rab GDP dissociation inhibitor alpha, GDI-1, guanosine diphosphate dissociation inhibitor 1, mental retardation, X-linked 48, oligophrenin-2, protein XAP-4, rab GDI alpha, rab GDP-dissociation inhibitor, alpha, testis secretory sperm-binding protein Li 208a,
• Gene location: Xq28 (154437153: 154443466)     Exons: 11     NC_000023.11
• Gene summary(Entrez): GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs

Protein Summary

• Protein general information: P31150  
  • Name: Rab GDP dissociation inhibitor alpha (Rab GDI alpha) (Guanosine diphosphate dissociation inhibitor 1) (GDI 1) (Oligophrenin 2) (Protein XAP 4)
  • Length: 447  
  • Mass: 50583
  • Tissue specificity: Brain; predominant in neural and sensory tissues. {ECO
• Sequence:

  MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESSSITPLEELYKRFQLLEGPPESMGRGRDWNVD
  LIPKFLMANGQLVKMLLYTEVTRYLDFKVVEGSFVYKGGKIYKVPSTETEALASNLMGMFEKRRFRKFLVFVANF
  DENDPKTFEGVDPQTTSMRDVYRKFDLGQDVIDFTGHALALYRTDDYLDQPCLETVNRIKLYSESLARYGKSPYL
  YPLYGLGELPQGFARLSAIYGGTYMLNKPVDDIIMENGKVVGVKSEGEVARCKQLICDPSYIPDRVRKAGQVIRI
  ICILSHPIKNTNDANSCQIIIPQNQVNRKSDIYVCMISYAHNVAAQGKYIAIASTTVETTDPEKEVEPALELLEP
  IDQKFVAISDLYEPIDDGCESQVFCSCSYDATTHFETTCNDIKDIYKRMAGTAFDFENMKRKQNDVFGEAEQ

• Structural information:
  • Interpro: IPR036188  IPR018203  IPR000806  
  • STRING: ENSP00000394071
• Other Databases: GeneCards:  GDI1  Malacards:  GDI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005093	Rab GDP-dissociation inhibitor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0050771	negative regulation of axonogenesis	ISS	biological process
GO:0032482	Rab protein signal transduction	ISS	biological process
GO:0090315	negative regulation of protein targeting to membrane	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005093	Rab GDP-dissociation inhibitor activity	ISS	molecular function
GO:0005092	GDP-dissociation inhibitor activity	IEA	molecular function
GO:0005093	Rab GDP-dissociation inhibitor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005092	GDP-dissociation inhibitor activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051592	response to calcium ion	IEA	biological process
GO:0050771	negative regulation of axonogenesis	IEA	biological process
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005093	Rab GDP-dissociation inhibitor activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0030496	midbody	IDA	cellular component

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Non-syndromic X-linked intellectual disability	PMID:9620768
Non-syndromic X-linked intellectual disability	PMID:9668174
Psychotic disorder	PMID:20421581
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray