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3975 LHX1

3975

LHX1

LIM homeobox 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition LIM homeobox 1

研究结论

Date Results Publications
2019-03-16 12:26:00 The potential pro-metastatic role of Lim1 in advanced clear cell renal cell carcinoma in vitro, ex vivo, and in vivo in a nude mouse model. Lim1 was found constitutively expressed in all metastatic tissues. Lim1 silencing decreased pulmonary metastasis in the in vivo model. Lim1 is involved in the expression of various proteins regulating cell movements and EMT, and induced clonogenicity in CCC cells. 30076415
2018-02-24 10:23:00 Report novel missense mutation in LHX1 in congenital absence of the uterus and vagina which could change the transcriptional activity of LHX1 and its effect on the regulation of the downstream target gene GSC. 28061432
2017-08-19 11:36:00 Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. CONCLUSION(S): Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was approximately 19%. 28600106
2014-07-19 12:19:00 Data have identified TBX6 as a new gene associated with Mullerian aplasia. The results also support the relevance of LHX1 and CNVs in the development of this congenital malformation. 23954021
2013-01-12 10:47:00 study concludes that heterozygous mutations of LHX1 might be one cause of the Mayer-Rokitansky-Kuster-Hauser syndrome in a subgroup of patients 22740494

名称对应

Type IDs
Synonymous LIM-1, LIM1
Gene
UniProtKB-ID: LHX1_HUMAN, Q58F18_HUMAN
UniprotKB: P48742, Q58F18
UniParc: UPI00004F6EC6, UPI000013CE37
EMBL: BC020470, BC111936, AC025882, BC101674, AC023315, U14755
Ensembl: ENSG00000273706, ENSG00000274577
KO: hsa:3975
Nucleutide sequences
EMBL-CDS: AAA21644.1, AAI11937.1, AAI01675.1, AAH20470.1
Ensembl_TRS: ENST00000614239, ENST00000620305
Protein sequencees
Ensembl_PRO: ENSP00000477829, ENSP00000484449
RefSeq: NP_005559.2
Others
UniRef100: UniRef100_P48742
UniRef90: UniRef90_P63006
UniRef50: UniRef50_P63006
UniGene: Hs.443727
CCDS: CCDS11316.1

全选

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