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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TFIP11 - Tuftelin Interacting Protein 11
Alias:
NTR1
STIP
TIP39
STIP-1
Spp382
bK445C9.6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个参与剪接体的蛋白质成分,在后期剪接过程中通过招募一个称为DEAH-box螺旋酶15的前mRNA剪接因子促进链式内切核酸酶-内切核酸酶的释放。编码的蛋白质含有G-patch结构域,这是RNA加工蛋白的特征,可以结合DEAH-box螺旋酶15。该蛋白质还含有一种非典型的核定位序列以及一个核斑点靶向序列,使其能够定位到细胞核内的不同斑点区域。这个基因的多态性与龋齿有关,暗示其在成釉中有作用。可变剪接导致多个转录变异体。[RefSeq,2016年11月提供]
Related ID:
NCBI:24144
ENSEMBL:ENSG00000100109
HGNC:17165
UNIPROT:Q9UBB9
OMIM:612747
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
24144
7
15
21234 bp
96.82
29
--
2
18
TFIP11 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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