Type | Description |
---|---|
Definition | cysteine and glycine rich protein 3 |
Date | Results | Publications |
---|---|---|
2021-01-30 13:03:00 | Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. | 31919335 |
2020-08-01 10:50:00 | MLP-deficient human embryonic stem cell derived cardiomyocytes recapitulate the pathogenesis of hypertrophic cardiomyopathy. | 31406109 |
2018-09-15 11:24:00 | Previous results along with the newly identified homozygous CSRP3 truncating variants in two unrelated hypertrophic cardiomyopathy (HCM) patients suggest that the association of CSRP3 as a validated HCM-causing gene require additional studies and those CSRP3 variants could result in HCM with an autosomal recessive inheritance rather than with an autosomal dominant transmission as usually reported on HCM. | 30012424 |
2014-10-11 11:03:00 | MLP contributes to the maintenance of cardiomyocyte cytoarchitecture by a mechanism involving its self-association and actin filament cross-linking. | 24934443 |
2014-09-13 10:08:00 | study reports the discovery of an alternative splice variant of muscle lim protein encoded by the CSRP3 gene, designated as MLP-b, showing distinct expression in neuromuscular disease and direct roles in actin dynamics and muscle differentiation | 24860983 |
Type | IDs |
---|---|
Synonymous | CLP, CMD1M, CMH12, CRP3, LMO4, MLP |
Gene |
UniProtKB-ID:
CSRP3_HUMAN,
A2TDB8_HUMAN
UniprotKB:
P50461,
A2TDB8
UniParc:
UPI000011DC5F,
UPI0008592515
EMBL:
U20324,
U72897,
CH471064,
JN898958,
AK313289,
BC024010,
U72899,
U72898,
U72895,
BC005900,
BC057221,
U72896,
EF179182,
U49837,
AF121260,
U72894
Ensembl:
ENSG00000129170
KO:
hsa:8048
|
Nucleutide sequences |
EMBL-CDS:
AAF28868.1,
AAH05900.1,
AFH66949.1,
AAD00189.1,
AAH24010.1,
AAH57221.1,
AAA91104.1,
AAA92571.1,
AAD00183.1,
BAG36097.1,
EAW68355.1,
ABN05285.1
Gene_ORFName:
hCG_1811041
Ensembl_TRS:
ENST00000533783,
ENST00000265968,
ENST00000649235
|
Protein sequencees |
Ensembl_PRO:
ENSP00000431813,
ENSP00000265968,
ENSP00000497388
RefSeq:
NP_001356333.1,
NP_003467.1
|
Others |
UniRef100:
UniRef100_P50461
UniRef90:
UniRef90_P50461
UniRef50:
UniRef50_P50461
UniGene:
Hs.83577
CCDS:
CCDS7848.1
|
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Refseq |
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