RBCC Red Blood Cell Collection

GDIR1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ARHGDIA , GDIA1
Protein names and data: GDIR1_HUMAN , Rho GDP-dissociation inhibitor 1; Rho GDI 1 , Rho-GDI alpha Lenght: 204 a.a.
Mass: 23207 Da
fasta formatted sequence
Function: Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. May shuttle Rho proteins from the endoplasmic reticulum to their site of action at the cell membrane. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1.
Disease: ( OMIM: 601925 615244 ) Nephrotic syndrome 8 (NPHS8) [MIM:615244]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.

Genetic variants

185 - 185 Missing (in NPHS8; produces mislocalization into the nucleus, hyperactivation of Rho-GTPases RHOA, RAC1 and CDC42 and impaired cell motility). VAR_069814

Database cross-references

UniProt: P52565
Ensembl: ENST00000269321
Ensembl: ENST00000400721
Ensembl: ENST00000541078
Ensembl: ENST00000580685
MIM: 601925
MIM: 615244
neXtProt: NX_P52565
Antibodypedia: P52565 (may not find the protein thus also not any antibody)
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