Type | Description |
---|---|
Definition | calmodulin 3 |
Date | Results | Publications |
---|---|---|
2020-07-18 10:05:00 | Novel CALM3-E141K and CALM1-E141V are associated with congenital arrhythmia susceptibility. | 31454269 |
2019-10-12 13:10:00 | Protein molecular diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms has been presented. | 29932249 |
2019-02-23 12:28:00 | Study identified the structure and function of Ca2+-dependent interaction of CaM with the inactivation gate (IG) of NaV1.5 channels. Models of full-length NaV1.5 suggest that CaM binding to the IG directly modulates its function by destabilizing the inactivated state, which would promote resetting of the IG after channels close. | 29606593 |
2018-07-14 10:04:00 | results suggest that ACE2, TNNI3K and CALM3 polymorphisms are associated with increased risk of hypertrophic cardiomyopathies and dilated cardiomyopathies and may act as disease modifiers of these diseases. | 28744816 |
2017-06-24 10:57:00 | We discovered a novel CPVT mutation in the CALM3 gene that shares functional characteristics with established CPVT-associated mutations in CALM1. A small proportion of A103V-CaM is sufficient to evoke arrhythmogenic Ca disturbances via ryanodine receptor 2 dysregulation, which explains the autosomal dominant inheritance. | 27516456 |
Type | IDs |
---|---|
Synonymous | CALM, CAM1, CAM2, CAMB, CaM, CaMIII, HEL-S-72, PHKD, PHKD3 |
Gene |
UniProtKB-ID:
CALM3_HUMAN,
CALM2_HUMAN,
CALM1_HUMAN,
Q96HY3_HUMAN,
B4DJ51_HUMAN,
Q9BRL5_HUMAN
UniprotKB:
P0DP25,
P0DP24,
P0DP23,
Q96HY3,
B4DJ51,
Q9BRL5
UniParc:
UPI00000000C1,
UPI0000073822,
UPI0000070E06
EMBL:
BC006464,
AL512791,
D45887,
BC047523,
CR541990,
BC008597,
BC007965,
AC093503,
BC005137,
BC008437,
U94728,
BT009916,
U94725,
FJ224310,
BT006855,
BC017385,
AY189287,
CR542021,
AC073283,
U12022,
BT006818,
AC006536,
X52607,
J04046,
BC011834,
X52606,
BC003354,
AK295927,
U94726,
M27319,
CH471053,
BC000454,
BC018677,
U11886,
CH471126,
CH471061,
BC006182,
BC026065,
M19311,
X52608
Ensembl:
ENSG00000198668,
ENSG00000143933,
ENSG00000160014
KO:
hsa:805,
hsa:808,
hsa:801
|
Nucleutide sequences |
EMBL-CDS:
AAP35501.1,
AAA51918.1,
CAA36839.1,
AAH05137.1,
AAA35641.1,
CAG46787.1,
AAH08437.1,
AAC83174.1,
AAH03354.1,
AAY24085.1,
AAH18677.1,
AAH17385.1,
CAG46818.1,
AAH26065.1,
AAP88918.1,
AAH06464.1,
BAA08302.1,
AAD45181.1,
AAH00454.1,
AAA35635.1,
AAB60644.1,
AAH11834.1,
AAP35464.1,
AAH08597.1,
EAX00221.1,
EAW57425.1,
AAO86731.1,
EAX00222.1,
EAX00223.1,
EAX00220.1,
AAH07965.1,
EAW57426.1,
EAW81427.1,
ACI46002.1,
EAW81428.1,
BAG58713.1,
AAH06182.1
Gene_ORFName:
hCG_17033,
hCG_20313,
hCG_21749,
hCG_20313
Ensembl_TRS:
ENST00000596362,
ENST00000291295,
ENST00000272298,
ENST00000654798,
ENST00000356978,
ENST00000663135,
ENST00000659177,
ENST00000456319,
ENST00000447653,
ENST00000655728,
ENST00000655450,
ENST00000553542,
ENST00000656538,
ENST00000544280,
ENST00000598871,
ENST00000599839,
ENST00000391918,
ENST00000594523,
ENST00000668667
|
Protein sequencees |
Ensembl_PRO:
ENSP00000472141,
ENSP00000291295,
ENSP00000499797,
ENSP00000272298,
ENSP00000349467,
ENSP00000499266,
ENSP00000499357,
ENSP00000499656,
ENSP00000471225,
ENSP00000403491,
ENSP00000499498,
ENSP00000468877,
ENSP00000442853,
ENSP00000375785,
ENSP00000411440,
ENSP00000499706,
ENSP00000470502,
ENSP00000499421,
ENSP00000450829
RefSeq:
NP_005175.2,
NP_001316850.1,
NP_001316852.1,
NP_001316854.1,
NP_001316853.1,
NP_001316851.1,
NP_001316855.1
|
Others |
UniRef100:
UniRef100_P0DP23,
UniRef100_Q9BRL5
UniRef90:
UniRef90_P0DP23,
UniRef90_Q9BRL5
UniRef50:
UniRef50_P0DP23,
UniRef50_P41041
UniGene:
Hs.515487
CCDS:
CCDS33061.1,
CCDS86782.1,
CCDS1832.1,
CCDS9892.1
|
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Refseq |
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