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808 CALM3

808

CALM3

calmodulin 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition calmodulin 3

研究结论

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

名称对应

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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