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6492 SIM1

6492

SIM1

SIM bHLH transcription factor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition SIM bHLH transcription factor 1

研究结论

Date Results Publications
2018-12-22 10:43:00 SIM1 is part of the leptin-melanocortin system. 30297428
2018-07-21 12:02:00 SIM1 was highly methylated in the majority of the cervical cancer tissues. Hypermethylation of SIM1 led to a pronounced reduction in SIM1 expression in cervical cancer tissues compared with normal cervix. The degree of SIM1 methylation was significantly associated with the severity of the disease. 29063719
2018-03-31 10:25:00 Single nucleotide polymorphism rs3734354 in SIM1 gene is associated with severe early-onset obesity. 28593922
2017-09-16 13:09:00 identified a novel SIM1 variant, p.D134N, in 4 obese individuals from a single pedigree which is also associated with lower preference for certain foods 28472148
2016-12-17 11:37:00 no gene harboring deletions were identified in the SIM1 and MRAP2 regions in the Prader Willi like (PWL) cohort; further functional analysis of p.P352S found in SIM1 and p.A40S found in MRAP2 is useful; this would provide further support for possible role of SIM1 and MRAP2 in the pathogenesis of the PWL phenotype in a limited number of patients 26795956

名称对应

Type IDs
Synonymous bHLHe14
Gene
UniProtKB-ID: SIM1_HUMAN
UniprotKB: P81133
UniParc: UPI000013D355
EMBL: AL121948, U70212, Z86062
Ensembl: ENSG00000112246
KO: hsa:6492
Nucleutide sequences
EMBL-CDS: AAB62395.1
Ensembl_TRS: ENST00000262901, ENST00000369208
Protein sequencees
Ensembl_PRO: ENSP00000262901, ENSP00000358210
RefSeq: XP_011534374.1, NP_001361698.1, NP_005059.2
Others
UniRef100: UniRef100_P81133
UniRef90: UniRef90_P81133
UniRef50: UniRef50_Q98SJ5
UniGene: Hs.520293
CCDS: CCDS5045.1

全选

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研究热度

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