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27295 PDLIM3

27295

PDLIM3

PDZ and LIM domain 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition PDZ and LIM domain 3

研究结论

Date Results Publications
2020-09-05 13:54:00 Novel polymorphisms in PDLIM3 and PDLIM5 gene encoding Z-line proteins increase risk of idiopathic dilated cardiomyopathy. 31424159
2015-12-05 10:57:00 This study confirmed that PDLIM3 as genetic modifiers of age at onset of Alzheimer disease. 26214276
2011-08-06 11:13:00 two abnormal splicing events for actinin-associated LIM protein 3 (PDLIM3/ALP) and fibronectin 1 (FN1) in the skeletal muscles of myotonic dystrophy type 1 patients. 21549096
2011-04-09 11:14:00 mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies 20801532
2010-01-21 00:00:00 Mutations in PDLIM3 and MYOZ1, encoding myocyte Z line proteins, do not play any significant role in the genetic etiology of idiopathic DCM. 17254821

名称对应

Type IDs
Synonymous ALP
Gene
UniProtKB-ID: PDLI3_HUMAN, A0A2U3TZH4_HUMAN, A0A087WYF8_HUMAN
UniprotKB: Q53GG5, A0A2U3TZH4, A0A087WYF8
UniParc: UPI000006D2B8, UPI000022C4D3, UPI00025908F8, UPI000013DDB6, UPI00000714EA
EMBL: CH471056, AF002282, AK313253, AC106897, BT007341, BC027870, AF002280, AK222966, BC001017, AF039018
Ensembl: ENSG00000154553
KO: hsa:27295
Nucleutide sequences
EMBL-CDS: AAC16672.1, BAG36063.1, AAH27870.1, EAX04641.1, BAD96686.1, AAB96665.1, AAP36005.1, AAC16670.1
Ensembl_TRS: ENST00000284771, ENST00000284767, ENST00000284770, ENST00000620787
Protein sequencees
Ensembl_PRO: ENSP00000284767, ENSP00000284771, ENSP00000284770, ENSP00000481771
RefSeq: NP_001244891.1, NP_001107579.1, NP_001244892.1, NP_055291.2
Others
UniRef100: UniRef100_A0A087WYF8, UniRef100_A0A2U3TZH4, UniRef100_Q53GG5
UniRef90: UniRef90_H2PEW7, UniRef90_A0A2I3GWT9, UniRef90_Q53GG5
UniRef50: UniRef50_A0A5F8GXN7, UniRef50_Q9PW72, UniRef50_Q53GG5
UniGene: Hs.701364
CCDS: CCDS47172.1, CCDS3844.1

全选

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