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Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.
[cystinuria]
Deletion
of
the
first
exon
of
calmodulin-lysine
N-
methyltransferase
(
CaM
KMT
,
previously
C
2
orf
34
)
has
been
reported
in
two
multigene
deletion
syndromes
,
but
additional
studies
on
the
gene
have
not
been
reported
.
Here
we
show
that
in
the
cells
from
2
p
21
deletion
patients
the
loss
of
CaM
KMT
expression
results
in
accumulation
of
hypomethylated
calmodulin
compared
to
normal
controls
,
suggesting
that
CaM
KMT
is
essential
for
calmodulin
methylation
and
there
are
no
compensatory
mechanisms
for
CaM
methylation
in
humans
.
We
have
further
studied
the
expression
of
this
gene
at
the
transcript
and
protein
levels
.
We
have
identified
2
additional
transcripts
in
cells
of
the
2
p
21
deletion
syndrome
patients
that
start
from
alternative
exons
positioned
outside
the
deletion
region
.
One
of
them
starts
in
the
2
(
nd
)
known
exon
,
the
other
in
a
novel
exon
.
The
transcript
starting
from
the
novel
exon
was
also
identified
in
a
variety
of
tissues
from
normal
individuals
.
These
new
transcripts
are
not
expected
to
produce
proteins
.
Immunofluorescent
localization
of
tagged
CaM
KMT
in
HeLa
cells
indicates
that
it
is
present
in
both
the
cytoplasm
and
nucleus
of
cells
whereas
the
short
isoform
is
localized
to
the
Golgi
apparatus
.
Using
Western
blot
analysis
we
show
that
the
CaM
KMT
protein
is
broadly
expressed
in
mouse
tissues
.
Finally
we
demonstrate
that
the
CaM
KMT
interacts
with
the
middle
portion
of
the
Hsp
90
molecular
chaperon
and
is
probably
a
client
protein
since
it
is
degraded
upon
treatment
of
cells
with
the
Hsp
90
inhibitor
geldanamycin
.
These
findings
suggest
that
the
CaM
KMT
is
the
major
,
possibly
the
single
,
methyltransferase
of
calmodulin
in
human
cells
with
a
wide
tissue
distribution
and
is
a
novel
Hsp
90
client
protein
.
Thus
our
data
provides
basic
information
for
a
gene
potentially
contributing
to
the
patient
phenotype
of
two
contiguous
gene
deletion
syndromes
.