Ras-related protein Rab-27A is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''RAB27A''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
The protein encoded by this gene belongs to the
small GTPase
Small GTPases (), also known as small G-proteins, are a family of hydrolase enzymes that can bind and hydrolyze guanosine triphosphate (GTP). They are a type of G-protein found in the cytosol that are homologous to the alpha subunit of heterotri ...
superfamily,
Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with
Griscelli syndrome type 2
Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, ne ...
and
hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a ...
. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.
The RAB27A gene is regulated by the
Microphthalmia-associated transcription factor
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.
MITF is a basic helix-loop-helix leucine zipper transcription factor ...
.
Interactions
RAB27A has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with:
*
EXPH5
Exophilin 5, also known as EXPH5, is a human gene.
Interactions
EXPH5 has been shown to interact with RAB27A
Ras-related protein Rab-27A is a protein that in humans is encoded by the ''RAB27A'' gene.
Function
The protein encoded by this ge ...
,
*
MYO5A
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.
Structure
In the presence of cargo ada ...
,
*
RPH3AL
Rab effector Noc2 is a protein that in humans is encoded by the ''RPH3AL'' gene.
Interactions
RPH3AL has been shown to interact with RAB27A
Ras-related protein Rab-27A is a protein that in humans is encoded by the ''RAB27A'' gene.
Function ...
*
SYTL1,
[
]
See also
* Rab27
References
Further reading
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