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11149 BVES

11149

BVES

blood vessel epicardial substance

protein-coding

Homo sapiens

基因描述

Type Description
Definition blood vessel epicardial substance

研究结论

Date Results Publications
2021-01-09 13:32:00 BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis. 32843646
2020-02-08 12:06:00 c.385C>T (p.R129W) is a functional SNP of the BVES gene that reduces the transcriptional activity of BVES in vitro and in vivo in TOF tissues. This subsequently affects the transcriptional activities of GATA4 and NKX2.5 related to TOF. These findings suggest that c.385C>T may be associated with the risk of TOF in the Han Chinese population. 31386585
2019-07-27 11:31:00 BVES plays a protective role both in ulcerative and infectious colitis. 29907869
2018-08-04 10:48:00 Functional suppression of POPDC1 promoted breast cancer cell migration and proliferation, cAMP interacts with POPDC1 and up-regulates its expression in breast cancer cells. 28954821
2018-06-16 10:36:00 recently a novel family of cAMP effector proteins emerged and was termed the Popeye domain containing (POPDC) family, which consists of three members POPDC1, POPDC2 and POPDC3. POPDC proteins are transmembrane proteins, which are abundantly present in striated and smooth muscle cells. POPDC proteins bind cAMP with high affinity comparable to 28939104

名称对应

Type IDs
Synonymous CARICK, HBVES, LGMD2X, POP1, POPDC1
Gene
UniProtKB-ID: POPD1_HUMAN
UniprotKB: Q8NE79
UniParc: UPI000006EFF7
EMBL: AF124512, BC040502, BC034425, AF204172, AL356775, AK289979, CH471051, Z95329
Ensembl: ENSG00000112276
KO: hsa:11149
Nucleutide sequences
EMBL-CDS: AAH40502.2, EAW48431.1, AAH34425.1, EAW48432.1, EAW48430.1, BAF82668.1, AAD51780.1, AAG23405.1
Ensembl_TRS: ENST00000314641, ENST00000446408, ENST00000336775
Protein sequencees
Ensembl_PRO: ENSP00000337259, ENSP00000397310, ENSP00000313172
RefSeq: XP_011533700.1, NP_001186492.1, NP_009004.2, NP_671488.1
Others
UniRef100: UniRef100_Q8NE79
UniRef90: UniRef90_Q8NE79
UniRef50: UniRef50_Q8NE79
UniGene: Hs.221660
CCDS: CCDS5051.1

全选

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