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11155 LDB3

11155

LDB3

LIM domain binding 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition LIM domain binding 3

研究结论

Date Results Publications
2020-02-22 11:14:00 The rs4468255 of LIM domain binding 3 (LDB3) is significantly correlated with idiopathic dilated cardiomyopathy of Chinese Han population 31379146
2018-05-31 14:35:00 Interaction is demonstrated between ZASP and two new binding partners both of which have roles in signalling, regulation of gene expression and muscle differentiation; the mechanosensing protein Ankrd2 and the tumour suppressor protein p53. 24647531
2018-05-31 14:34:00 p.(D117N) variant in Cypher/ZASP is not a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. 26419279
2018-05-31 14:34:00 A novel heterozygous missense mutation (p.N155H) in a highly conserved PDZ-like motif of ZASP was identified. The results indicate that typical ZASP-MFM presenting with late-onset distal myopathy is commonly associated with mutations in PDZ-like motif of ZASP. 27546599
2018-05-31 14:33:00 The molecular basis for high-affinity binding of ZASP to G-Actin has been described. 28349680

名称对应

Type IDs
Synonymous CMD1C, CMH24, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP
Gene
UniProtKB-ID: LDB3_HUMAN, A0A0S2Z501_HUMAN, A0A0S2Z530_HUMAN
UniprotKB: O75112, A0A0S2Z501, A0A0S2Z530
UniParc: UPI000013D39B, UPI00004A064E, UPI000013F521, UPI000034ECFC, UPI000004FDF8, UPI00017A876A, UPI00004A064C
EMBL: AJ133766, AK304760, AF276808, CH471142, EF179181, KU178544, AB014513, AJ133767, BC010929, KU178543, AC067750, AF276807, AJ133768, AF276809
Ensembl: ENSG00000122367
KO: hsa:11155
Nucleutide sequences
EMBL-CDS: CAB46728.1, BAG65515.1, AAH10929.1, AAQ14316.1, BAA31588.1, CAB46727.1, ABN05284.1, CAB46729.1, AAQ14317.1, AAQ14318.1, ALQ34002.1, EAW80329.1, ALQ34001.1
Gene_ORFName: hCG_23264
Ensembl_TRS: ENST00000372056, ENST00000263066, ENST00000429277, ENST00000361373, ENST00000372066, ENST00000623007, ENST00000623056
Protein sequencees
Ensembl_PRO: ENSP00000401437, ENSP00000355296, ENSP00000361126, ENSP00000361136, ENSP00000485500, ENSP00000263066, ENSP00000485389
RefSeq: NP_001354995.1, NP_001073584.1, NP_001354992.1, NP_001354994.1, NP_001165081.1, NP_009009.1, NP_001354997.1, NP_001073585.1, NP_001354993.1, NP_001165082.1, NP_001073583.1, NP_001354996.1
Others
UniRef100: UniRef100_O75112, UniRef100_A0A2J8XW67, UniRef100_A0A2J8KIR3
UniRef90: UniRef90_A0A4X1VHY9, UniRef90_O75112, UniRef90_A0A2K5QEZ8
UniRef50: UniRef50_F1QEP7, UniRef50_O75112, UniRef50_Q802V0
UniGene: Hs.657271
CCDS: CCDS41544.1, CCDS7377.1, CCDS53549.1, CCDS44450.1, CCDS53550.1, CCDS41545.1

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研究热度

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