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64342 HS1BP3

64342

HS1BP3

HCLS1 binding protein 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition HCLS1 binding protein 3

研究结论

Date Results Publications
2018-09-22 11:50:00 HS1BP3 is localized to ATG16L1- and ATG9-positive autophagosome precursors and we show that HS1BP3 binds phosphatidic acid (PA) through its PX domain. Furthermore, we find the total PA content of cells to be significantly upregulated in the absence of HS1BP3. 28004827
2011-10-22 10:15:00 Results suggest that HS1BP3 regulates apoptosis via HS1 and stimulates AP-1-mediated transcription. 21699750
2010-01-21 00:00:00 Results do not support a role for these DRD3 and HS1BP3 variants in PD. 19524641
2010-01-21 00:00:00 HS1PB3 protein is mutated in essential tremor combined with Parkinson disease. 16116142
2010-01-21 00:00:00 The 828C-->G mutation causes a substitution of a glycine for an alanine residue in the HS1-BP3 protein. It was found in 2 unrelated patients with familial essential tremor. 15699368

名称对应

Type IDs
Synonymous ETM2, HS1-BP3
Gene
UniProtKB-ID: H1BP3_HUMAN, Q9H7U7_HUMAN
UniprotKB: Q53T59, Q9H7U7
UniParc: UPI000013E92A, UPI000007084B
EMBL: BC050636, AC012065, AK314383, AK024311, CH471053
Ensembl: ENSG00000118960
KO: hsa:64342
Nucleutide sequences
EMBL-CDS: EAX00814.1, AAH50636.1, EAX00816.1, BAG37009.1, AAX93235.1, BAB14878.1
Ensembl_TRS: ENST00000304031
Protein sequencees
Ensembl_PRO: ENSP00000305193
RefSeq: XP_016860187.1, XP_016860190.1, XP_016860188.1, XP_016860189.1, NP_071905.3, XP_016860186.1, XP_016860185.1
Others
UniRef100: UniRef100_Q53T59, UniRef100_Q9H7U7
UniRef90: UniRef90_Q9H7U7, UniRef90_Q53T59
UniRef50: UniRef50_A0A670ITG6, UniRef50_Q53T59
UniGene: Hs.531785
CCDS: CCDS1700.1

全选

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