Literature summary for 3.6.5.2 extracted from

Menasche, G.; Feldmann, J.; Houdusse, A.; Desaymard, C.; Fischer, A.; Goud, B.; de Saint Basile, G.
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients (2003), Blood, 101, 2736-2742.

Search for more literature for 3.6.5.2

Activating Compound

Activating Compound	Comment	Organism	Structure
melanophilin	Rab27a effector	Homo sapiens

Application

Application	Comment	Organism
medicine	Rab27a is associated with the Griscelli syndrome type 2, mutations in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of this syndrome	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
wild-type and mutant Rab27a cDNA, expression in Escherichia coli BL21 and in 293T cells, expression of mutant Rab27a in the mouse melanocyte cell line melan-a	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A152P	mutation dramatically affects both GTP and GDP nucleotide-binding activity of Rab27a, probably by disrupting protein folding	Homo sapiens
L130P	mutation dramatically affects both GTP and GDP nucleotide-binding activity of Rab27a, probably by disrupting protein folding	Homo sapiens
additional information	mutations in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of the Griscelli syndrome type 2	Homo sapiens
Q78L	constitutively GTP-bound, active mutant, mutant protein has GTP-binding activity but is inefficient in hydrolyzing GTP	Homo sapiens
W73G	mutant protein has GTP-binding activity but is inefficient in hydrolyzing GTP, in contrast to Q78L it neither interacts with the Rab27a effector melanophilin nor modifies melanosome distribution and cytotoxic granule exocytosis, mutation may increase switch flexibility and thus impair the dynamics of the conformational changes associated with each nucleotide binding	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
additional information	-	additional information	kinetic data	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
GTP + H2O	Homo sapiens	Rab27a has a determinant role in melanocytes and lymphocytes, role in melanosome peripheral transfer, required for cytotoxic granule exocytosis	GDP + phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Purification (Commentary)

Purification (Comment)	Organism
recombinant wild-type and mutant Rab27a	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
lymphoblastoid cell line	B-EBV lymphoblastoid cell line	Homo sapiens	-
additional information	mutant Rab27a is isolated from patients with Griscelli syndrome type 2	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
GTP + H2O	Rab27a has a determinant role in melanocytes and lymphocytes, role in melanosome peripheral transfer, required for cytotoxic granule exocytosis	Homo sapiens	GDP + phosphate	-	?
GTP + H2O	Trp-73 is a key position for interaction with the specific effectors of Rab27a, both in melanocytes and cytotoxic cells, Trp-73 is essential for the intrinsic GTPase activity, Gln-78 may stabilize the catalytic transition state between switch I and II	Homo sapiens	GDP + phosphate	-	?

Synonyms

Synonyms	Comment	Organism
Rab27a	-	Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C]	Temperature Optimum Maximum [°C]	Comment	Organism
30	-	assay at	Homo sapiens

pH Optimum

pH Optimum Minimum	pH Optimum Maximum	Comment	Organism
7.5	-	assay at	Homo sapiens

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Release 2023.1 (January 2023)