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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
RANBP17 - RAN Binding Protein 17
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
蛋白质和大型RNA通过核孔复合物(NPC)的运输是一个能量依赖且受调控的过程。具有核定位信号(NLS)的蛋白质的导入是通过importin-alpha/beta复合物识别一个或多个碱性氨基酸簇来实现的,参见MIM 600685和MIM 602738。小型GTP酶RAN(MIM 601179)在NLS依赖性蛋白质导入中起关键作用。RAN结合蛋白-17是核运输受体importin-beta超家族的一员。[由OMIM于2002年7月提供]
Related ID:
NCBI:64901
ENSEMBL:ENSG00000204764
HGNC:14428
UNIPROT:Q9H2T7
OMIM:606141
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64901
18
28
437998 bp
124.38
62
--
3
5
RANBP17 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Regulation
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Type
Name
MGI
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Mutations
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References Literature
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