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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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TAP1 - Transporter 1, ATP Binding Cassette Subfamily B Member
Alias:
APT1
PSF1
ABC17
ABCB2
PSF-1
RING4
TAP1N
D6S114E
TAP1*0102N
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的膜关联蛋白是ATP结合盒(ABC)转运蛋白超家族的一员。ABC蛋白在细胞内外膜之间运输各种分子。ABC基因分为七个不同的亚家族(ABC1,MDR/TAP,MRP,ALD,OABP,GCN20,White)。这个蛋白是MDR/TAP亚家族的一员。MDR/TAP亚家族的成员参与多药抗性。这个基因编码的蛋白参与将降解的胞质肽从内质网泵送到I类分子组装的膜结合腔室中。这个基因的突变可能与强直性脊柱炎、胰岛素依赖性糖尿病和乳糜泻疾病有关。已经发现这个基因有两个编码不同异型的转录变异体。[由RefSeq,2014年5月提供]
Related ID:
NCBI:6890
ENSEMBL:ENSG00000168394
HGNC:43
UNIPROT:Q03518
OMIM:170260
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6890
2
11
8496 bp
80.97
347
1
11
40
TAP1 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
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