RBCC Red Blood Cell Collection

GDIA_HUMAN

Source: hRBCD ; ID: IPI00010154
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: GDI1 , GDIL, OPHN2, RABGDIA, XAP4
Protein names and data: GDIA_HUMAN , Rab GDP dissociation inhibitor alpha; Rab GDI alpha , Guanosine diphosphate dissociation inhibitor 1; GDI-1; Oligophrenin-2; Protein XAP-4 Lenght: 447 a.a.
Mass: 50583 Da
fasta formatted sequence
Function: Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them.
Disease: ( OMIM: 300104 300849 ) Mental retardation, X-linked 41 (MRX41) [MIM:300849]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm (By similarity).
Tissue specificity: Brain; predominant in neural and sensory tissues.

Genetic variants

92 - 92 L -> P (in MRX41; causes reduced binding and recycling of RAB3A). VAR_008130
423 - 423 R -> P (in MRX41). VAR_008131

Database cross-references

UniProt: P31150
Ensembl: ENST00000447750
Ensembl: ENST00000601899
MIM: 300104
MIM: 300849
neXtProt: NX_P31150
Antibodypedia: P31150 (may not find the protein thus also not any antibody)
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