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29970 SCHIP1

29970

SCHIP1

schwannomin interacting protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition schwannomin interacting protein 1

研究结论

Date Results Publications
2019-08-03 10:16:00 This is the first report of a SCHIP1/IQCJ-SCHIP1 point mutation in humans associated with a neurological-developmental phenotype 28787085
2017-05-27 11:24:00 SNPs within genes SCHIP1 and PDE8A were associated with measures of facial size in both the GWAS and replication cohorts and passed a stringent genomewide significance threshold adjusted for multiple testing of 34 correlated traits. For both SCHIP1 and PDE8A, we demonstrated clear expression in the developing mouse face by both whole-mount in situ hybridization and RNA-seq 27560698
2016-03-05 11:03:00 Schip1 associates with the cortical actin cytoskeleton network and modulates its dynamics in response to PDGF signaling via interaction with the Nherf2/ezrin complex. 25807495
2010-09-15 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 19913121
2010-09-15 22:05:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086

名称对应

Type IDs
Synonymous SCHIP-1
Gene
UniProtKB-ID: SCHI1_HUMAN
UniprotKB: P0DPB3
UniParc: UPI000020A51C, UPI000006EAE1, UPI000006F80A, UPI0000072496
EMBL: AF145714, CH471052, AF145713, BC036535, AK091871, AF070614, BC005947, AF145715
Ensembl: ENSG00000151967
KO: hsa:29970
Nucleutide sequences
EMBL-CDS: BAG52432.1, AAC25386.1, AAH05947.1, AAF34242.1, AAF34243.1, EAW78662.1, AAH36535.1, AAF34241.1
Ensembl_TRS: ENST00000445224
Protein sequencees
Ensembl_PRO: ENSP00000404860
RefSeq: NP_001184038.1, NP_001184036.1, NP_001184037.1, NP_055390.1
Others
UniRef100: UniRef100_P0DPB3
UniRef90: UniRef90_P0DPB3
UniRef50: UniRef50_A0A088MLT8
UniGene: Hs.134665
CCDS: CCDS56294.1, CCDS56293.1, CCDS56292.1, CCDS3186.1

全选

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