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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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人类
TBC1D5 - TBC1 Domain Family Member 5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
促进AP-2适配体复合物的结合活性,并参与几个过程,包括巨自噬作用;受体内化的正向调节;以及逆行运输,从内质网到高尔基体。位于高尔基体;自噬囊泡;和内质网膜上。是逆行复合物的一部分。与AP-2适配体复合物和Atg1/ULK1激酶复合物共定位。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:9779
ENSEMBL:ENSG00000131374
HGNC:19166
UNIPROT:Q92609
OMIM:615740
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9779
65
23
585470 bp
89.00
20
--
4
21
TBC1D5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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CAS Number
Status
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References Literature
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