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5339 PLEC

5339

PLEC

plectin

protein-coding

Homo sapiens

基因描述

Type Description
Definition plectin

研究结论

Date Results Publications
2021-03-20 13:28:00 Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features. 32605089
2020-08-01 10:10:00 We conclude that the phenotype caused variants in PLEC1 and ITGB4 can be markedly dominated by ACC. Especially if pyloric atresia is present, but also if it is absent, these genes should be considered in newborns with marked and widespread ACC. 31184804
2020-02-01 10:57:00 PLEC encodes plectin, a cytoskeletal protein that maintains tissue integrity. GRINA encodes TMBIM3, which regulates cell survival. We hypothesized that in a joint predisposed to Osteoarthritis (OA), expression of these genes alters to combat aberrant biomechanics and is epigenetically regulated. However, carriage of the OA risk-conferring allele at this locus hinders this response and contributes to disease development. 30730609
2019-12-14 11:05:00 High PLEC expression is associated with squamous cell carcinoma in Paranasal Sinus Neoplasms. 30991875
2019-02-16 10:09:00 40/359 arrhythmogenic right ventricular cardiomyopathy (ARVC) patients carried 1+ rare PLEC variants but rare variants also seem to occur frequently in the control population and no difference was found in the prevalence of rare PLEC variants in ARVC patients with/without desmosomal likely pathogenic/pathogenic variant. Decreased plectin junctional localization in myocardial tissue was found in 5 variant ARVC patients. 30161220

名称对应

Type IDs
Synonymous EBS1, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN
Gene
UniProtKB-ID: PLEC_HUMAN
UniprotKB: Q15149
UniParc: UPI0000233FCD, UPI0000233FCE, UPI00002127C1, UPI0000233FCC, UPI0000233FCB, UPI0000233FD1, UPI0000233FD0, UPI00018132C3, UPI0000233FCF
EMBL: U53204, AY480044, AY480046, AY480050, X97053, U63609, AC109322, AY480049, AY480048, AY480045, Z54367, U63610, AY480051, AY480047
Ensembl: ENSG00000178209
KO: hsa:5339
Nucleutide sequences
EMBL-CDS: AAB05428.1, CAA91196.1, AAR95679.1, AAR95684.1, AAR95678.1, AAR95682.1, AAR95683.1, CAA65765.1, AAR95681.1, AAR95677.1, AAB05427.1, AAR95680.1
Ensembl_TRS: ENST00000322810, ENST00000356346, ENST00000527096, ENST00000436759, ENST00000354958, ENST00000354589, ENST00000345136, ENST00000357649, ENST00000398774
Protein sequencees
Ensembl_PRO: ENSP00000434583, ENSP00000346602, ENSP00000381756, ENSP00000348702, ENSP00000323856, ENSP00000350277, ENSP00000347044, ENSP00000344848, ENSP00000388180
RefSeq: NP_958784.1, NP_958783.1, XP_011515433.1, NP_958786.1, XP_005251037.1, XP_005251038.1, XP_011515432.1, XP_011515434.1, XP_006716652.1, XP_005251040.1, XP_005251041.1, NP_958780.1, XP_006716653.1, NP_000436.2, NP_958785.1, NP_958781.1, XP_006716651.1, XP_005251033.1, NP_958782.1, XP_005251036.1, XP_005251035.1, XP_005251039.1
Others
UniRef100: UniRef100_Q15149
UniRef90: UniRef90_Q15149
UniRef50: UniRef50_Q15149
UniGene: Hs.434248
CCDS: CCDS47936.1, CCDS43770.1, CCDS43774.1, CCDS43771.1, CCDS43772.1, CCDS43769.1, CCDS43773.1, CCDS43775.1

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