• Gene id: 396

Gene Summary

• Gene Symbol: ARHGDIA   Gene   UCSC   Ensembl
• Aliases: GDIA1, HEL-S-47e, NPHS8, RHOGDI, RHOGDI-1
• Gene name: Rho GDP dissociation inhibitor alpha
• Alternate names: rho GDP-dissociation inhibitor 1, GDP-dissociation inhibitor, aplysia RAS-related 1, Rho GDP dissociation inhibitor (GDI) alpha, epididymis secretory sperm binding protein Li 47e,
• Gene location: 17q25.3 (81871405: 81867718)     Exons: 7     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive st
• OMIM: 601925

SNPs

rs2290870

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.42574403T>C
NC_000004.11   g.42576420T>C|SEQ=[T/C]|GENE=ATP8A1

Protein Summary

• Protein general information: P52565  
  • Name: Rho GDP dissociation inhibitor 1 (Rho GDI 1) (Rho GDI alpha)
  • Length: 204  
  • Mass: 23,207
• Sequence:

  MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGL
  TLVCSSAPGPLELDLTGDLESFKKQSFVLKEGVEYRIKISFRVNREIVSGMKYIQHTYRKGVKIDKTDYMVGSYG
  PRAEEYEFLTPVEEAPKGMLARGSYSIKSRFTDDDKTDHLSWEWNLTIKKDWKD

• Structural information:
  • Interpro: IPR014756  IPR000406  IPR024792  
  • PDB: 1CC0 1FSO 1FST 1FT0 1FT3 1HH4 1KMT 1QVY 1RHO 2BXW 2JHS 2JHT 2JHU 2JHV 2JHW 2JHX 2JHY 2JHZ 2JI0 2N80
  • PDBsum: 1CC0 1FSO 1FST 1FT0 1FT3 1HH4 1KMT 1QVY 1RHO 2BXW 2JHS 2JHT 2JHU 2JHV 2JHW 2JHX 2JHY 2JHZ 2JI0 2N80
  • STRING: ENSP00000269321
• Other Databases: GeneCards:  ARHGDIA  Malacards:  ARHGDIA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005094	Rho GDP-dissociation inhibitor activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	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: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:0005856	cytoskeleton	TAS	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0007162	negative regulation of cell adhesion	TAS	biological process
GO:0035023	regulation of Rho protein signal transduction	IMP	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0050771	negative regulation of axonogenesis	TAS	biological process
GO:0050772	positive regulation of axonogenesis	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071526	semaphorin-plexin signaling pathway	ISS	biological process
GO:2000249	regulation of actin cytoskeleton reorganization	IMP	biological process
GO:0005094	Rho GDP-dissociation inhibitor activity	IEA	molecular function
GO:0005094	Rho GDP-dissociation inhibitor activity	TAS	molecular function
GO:0005096	GTPase activator activity	IEA	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:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	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:0005856	cytoskeleton	TAS	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0007162	negative regulation of cell adhesion	TAS	biological process
GO:0035023	regulation of Rho protein signal transduction	IMP	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0050771	negative regulation of axonogenesis	TAS	biological process
GO:0050772	positive regulation of axonogenesis	TAS	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071526	semaphorin-plexin signaling pathway	ISS	biological process
GO:2000249	regulation of actin cytoskeleton reorganization	IMP	biological process
GO:0005094	Rho GDP-dissociation inhibitor activity	TAS	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: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:0005856	cytoskeleton	TAS	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0007162	negative regulation of cell adhesion	TAS	biological process
GO:0035023	regulation of Rho protein signal transduction	IMP	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0050771	negative regulation of axonogenesis	TAS	biological process
GO:0050772	positive regulation of axonogenesis	TAS	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071526	semaphorin-plexin signaling pathway	ISS	biological process
GO:2000249	regulation of actin cytoskeleton reorganization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04962	Vasopressin-regulated water reabsorption
hsa04722	Neurotrophin signaling pathway

Diseases

Associated diseases	References
Male factor infertility	MIK: 21548210
Associated with sperm capacitation	MIK: 20711218
Associated with control of growth and development of the male internal genital tract	MIK: 12960072
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 21548210

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21548210	Male infertility			35 (10 normozoospermic males, 12 IVF patients with high fertilization rates, 13 with low fertilization rates)	Male infertility
20711218	Assocaited with sperm capacitation				Male infertility
12960072	Associated with control of growth and development of the male internal genital tract				Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq