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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
RAB5A - RAB5A, Member RAS Oncogene Family
Alias:
RAB5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有GDP结合活性、GTP结合活性和GTP酶活性。参与几个过程,包括通过转运体清除淀粉样蛋白-β;早期内质网到晚期内质网运输;以及调节突触外排。位于几个细胞组件中,包括早期内质网膜的胞质侧;核质;和终端囊泡。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:5868
ENSEMBL:ENSG00000144566
HGNC:9783
UNIPROT:P20339
OMIM:179512
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5868
3
6
38079 bp
23.66
8
--
4
30
RAB5A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Target
Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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IF
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