RAB27

Last updated
RAB27A, member RAS oncogene family
Identifiers
Symbol RAB27A
NCBI gene 5873
HGNC 9766
OMIM 603868
RefSeq NM_004580
UniProt P51159
Other data
Locus Chr. 15 q21
RAB27B, member RAS oncogene family
Identifiers
SymbolRAB27B
NCBI gene 5874
HGNC 9767
OMIM 603869
RefSeq NM_004163
UniProt O00194
Other data
Locus Chr. 18 q21.2

Rab27 is a member of the Rab subfamily of GTPases. Rab27 is post translationally modified by the addition of two geranylgeranyl groups on the two C-terminal cysteines.

Pathology

Mutations that prevent the expression of Rab27 ('knock out' mutations) cause the hypopigmentation and immunodeficiency disorder known as type II Griscelli syndrome, while a decrease in Rab27 prenylation is thought to be involved in choroideremia.

The symptoms of type II Griscelli syndrome have shown that Rab27 is involved in melanosome transport in melanocytes and in cytotoxic killing activity in cytotoxic T lymphoblasts. In melanocytes Rab27 binds the melanosome. The melanosome is transported along the microtubule. Rab27 then recruits Slac2A and myosin Va, these enzymes are essential for the transfer of the melanosomes from the microtubules to actin filaments. The melanosomes can now continue on their path towards the cell periphery. If either Rab27, Slac2A or myosin Va are absent then the melanosomes remain in the perinuclear region of the cell. This disruption in pigmentation results in the hypopigmentation seen in the silvery hair colour of patients with Griscelli syndrome.


Related Research Articles

Chédiak–Higashi syndrome Medical condition

Béguez-Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.

Motor protein

Motor proteins are a class of molecular motors that can move along the cytoplasm of animal cells. They convert chemical energy into mechanical work by the hydrolysis of ATP. Flagellar rotation, however, is powered by a proton pump.

Griscelli syndrome Medical condition

Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities.

Microphthalmia-associated transcription factor Mammalian protein found in Homo sapiens

Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene.

Hemophagocytic lymphohistiocytosis Medical condition

Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis, and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages, characterised by proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH).

UNC13D

Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.

Melanophilin

Melanophilin is a carrier protein which in humans is encoded by the MLPH gene. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Unconventional myosin-Va

Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the MYO5A gene.

RAB7A Protein-coding gene in the species Homo sapiens

Ras-related protein Rab-7a is a protein that in humans is encoded by the RAB7A gene.

Membrane-bound transcription factor site-2 protease, also known as S2P endopeptidase or site-2 protease (S2P), is an enzyme encoded by the MBTPS2 gene which liberates the N-terminal fragment of sterol regulatory element-binding protein (SREBP) transcription factors from membranes. S2P cleaves the transmembrane domain of SREPB, making it a member of the class of intramembrane proteases.

SOX10 Transcription factor gene of the SOX family

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.

HPS3

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.

SYTL1

Synaptotagmin-like protein 1 is a protein that in humans is encoded by the SYTL1 gene.

RAB40A Protein-coding gene in the species Homo sapiens

Ras-related protein Rab-40A is a protein that in humans is encoded by the RAB40A gene.

RAB27A

Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.

TTC8

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.

BBS7 Protein-coding gene in the species Homo sapiens

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.

BBS9 Gene of the species Homo sapiens

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.

Lavender (chicken plumage)

Lavender or self-blue refers to a plumage color pattern in the chicken characterized by a uniform, pale bluish grey color across all feathers. The distinctive color is caused by the action of an autosomal recessive gene, commonly designated as "lav", which reduces the expression of eumelanin and phaeomelanin so that black areas of the plumage appear pale grey instead, and red areas appear a pale buff.

Sodium-dependent phosphate transport protein 2A

Sodium-dependent phosphate transport protein 2A, also known as Na+-Pi cotransporter 2a (NaPi-2a), is a protein in humans that is encoded by the SLC34A1 gene. This gene encodes a member of the type II sodium-phosphate cotransporter family.