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139741 ACTRT1

139741

ACTRT1

actin related protein T1

protein-coding

Homo sapiens

基因描述

Type Description
Definition actin related protein T1

研究结论

Date Results Publications
2017-10-21 11:54:00 Study identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 in two of the six families with Bazex-Dupre-Christol syndrome (BDCS) that were examined in this study. was found to directly bind to the GLI1 promoter, thus inhibiting GLI1 expression, and loss of duanyu37-T1 led to activation of the Hedgehog pathway in individuals with BDCS. 28869610
2010-01-21 00:00:00 Describes the discovery of two actin-related proteins as major components in a cytoskeletal, nonmotile structure of bull spermatozoa, suggesting that certain members of this family of proteins may serve functions other than nucleation of actin filaments. 12243744

名称对应

Type IDs
Synonymous AIP1, ARIP1, ARPT1, HSD27
Gene
UniProtKB-ID: ACTT1_HUMAN
UniprotKB: Q8TDG2
UniParc: UPI0000072276
EMBL: BC014597, AF440739, AY251532, Z74696
Ensembl: ENSG00000123165
KO: hsa:139741
Nucleutide sequences
EMBL-CDS: AAM00432.1, AAH14597.1, AAP20055.1
Gene_ORFName: HSD27
Ensembl_TRS: ENST00000371124
Protein sequencees
Ensembl_PRO: ENSP00000360165
RefSeq: NP_612146.1
Others
UniRef100: UniRef100_Q8TDG2
UniRef90: UniRef90_Q8TDG2
UniRef50: UniRef50_Q8TDG2
UniGene: Hs.680125
CCDS: CCDS14611.1

全选

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