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51319 RSRC1

51319

RSRC1

arginine and serine rich coiled-coil 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition arginine and serine rich coiled-coil 1

研究结论

Date Results Publications
2020-08-01 12:54:00 Our findings support the pathogenic role of biallelic loss-of-function RSRC1 variants in autosomal recessive intellectual disability, in addition to contributing to the phenotypic delineation of this emerging condition 32227164
2020-01-04 10:43:00 RSRC1 knockdown promoted the proliferation and migration of gastric cancer cells. In addition, the knockdown of RSRC1 decreased the expression of phosphatase and tensin homolog deleted on chromosome 10 (PTEN), a potent tumor suppressor gene controlling cellular growth and viability. 31257492
2019-06-29 10:04:00 This study demonstrated that RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. 29522154
2018-06-09 11:55:00 RSRC1 rs6441201A allele was associated with increased neuroblastoma risk in Chinese children. 29653227
2015-08-08 10:23:00 Data indicate that arginine/serine-rich coiled-coil 1 (RSRC1) represses estrogen receptor beta (ERbeta) transcriptional activity via ERbeta SUMOylation. 25937118

名称对应

Type IDs
Synonymous BM-011, SFRS21, SRrp53
Gene
UniProtKB-ID: RSRC1_HUMAN
UniprotKB: Q96IZ7
UniParc: UPI000006EB23, UPI000007311A
EMBL: AF208853, BC010357, BC006982, AK290334
Ensembl: ENSG00000174891
KO: hsa:51319
Nucleutide sequences
EMBL-CDS: AAH10357.1, AAF64267.1, BAF83023.1, AAH06982.1
Gene_ORFName: BM-011
Ensembl_TRS: ENST00000611884, ENST00000295930, ENST00000312179, ENST00000464171, ENST00000480820
Protein sequencees
Ensembl_PRO: ENSP00000481697, ENSP00000419794, ENSP00000295930, ENSP00000308671, ENSP00000420150
RefSeq: XP_024309331.1, NP_001258763.1, NP_057709.2, NP_001258767.1, XP_024309328.1, XP_024309330.1
Others
UniRef100: UniRef100_Q96IZ7
UniRef90: UniRef90_Q96IZ7
UniRef50: UniRef50_Q96IZ7
UniGene: Hs.591283
CCDS: CCDS63822.1, CCDS3181.1

全选

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