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25972 UNC50

25972

UNC50

unc-50 inner nuclear membrane RNA binding protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition unc-50 inner nuclear membrane RNA binding protein

研究结论

Date Results Publications
2018-03-10 11:49:00 Data indicate that biallelic mutation in the UNC50 gene underlies AMC through a probable loss of AChR expression at the neuromuscular junction which is essential for the cholinergic transmission during human muscle development. 29016857
2017-10-07 10:08:00 depletion of UNC50 blocked early endosome-to-Golgi trafficking and induced lysosomal degradation of STx2. UNC50 acted by recruiting GBF1, an ADP ribosylation factor-guanine nucleotide exchange factor (ARF-GEF), to the Golgi. 28883040
2016-01-23 10:30:00 UNC50 may plays some roles in HCC progression by affecting the EGFR pathway 25738771
2010-01-21 00:00:00 UNCL plays important roles in the development, differentiation, and maintenance of periodontal tissues and in the mechanotransduction of periodontal ligament fibroblasts. 17004066

名称对应

Type IDs
Synonymous GMH1, HSD23, PDLs22, UNCL, URP
Gene
UniProtKB-ID: UNC50_HUMAN, A0A0S2Z612_HUMAN, J3KQ47_HUMAN
UniprotKB: Q53HI1, A0A0S2Z612, J3KQ47
UniParc: UPI0000031564, UPI000015DD63
EMBL: AC064860, BC091481, AY017215, KU178586, AK222599, CH471127, AL080115, AY251534, AC010134, BC025992, BC017019, CR533464, AF077038, BC039078
Ensembl: ENSG00000115446
KO: hsa:25972
Nucleutide sequences
EMBL-CDS: EAX01900.1, AAH25992.1, AAD27771.1, EAX01902.1, AAH39078.1, AAH17019.1, AAK08987.1, AAP20057.1, AAX93232.1, AAY14975.1, AAH91481.1, EAX01901.1, CAG38495.1, BAD96319.1, CAB45714.1, ALQ34044.1
Gene_ORFName: HSD23, HSD-23
Ensembl_TRS: ENST00000357765, ENST00000409347, ENST00000409975
Protein sequencees
Ensembl_PRO: ENSP00000350409, ENSP00000387146, ENSP00000386466
RefSeq: NP_001317283.1, NP_054763.2, NP_001317282.1, XP_006712466.1
Others
UniRef100: UniRef100_Q53HI1, UniRef100_J3KQ47
UniRef90: UniRef90_Q53HI1, UniRef90_Q9CQ61
UniRef50: UniRef50_Q53HI1
UniGene: Hs.13370
CCDS: CCDS2035.1

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