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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
CYTH1 - Cytohesin 1
Alias:
B2-1
SEC7
PSCD1
D17S811E
CYTOHESIN-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是PSC家族的一员。这个家族的成员具有相同的结构组织,包括N端螺旋卷结构,中央Sec7结构域和C端的pleckstrin同源性(PH)结构域。螺旋卷结构参与同源二聚化,Sec7结构域含有鸟苷酸交换蛋白活性,PH结构域与磷脂相互作用,并负责PSC与膜的结合。这个家族的成员似乎调节蛋白质分类和膜运输的调控。这个基因在自然杀伤细胞和外围T细胞中高度表达,并调节淋巴细胞质膜上整合素的粘附性。这个基因的假基因已经在X染色体上定义。可选的剪接导致多个转录变异体。[RefSeq提供,2014年5月]
Related ID:
NCBI:9267
ENSEMBL:ENSG00000108669
HGNC:9501
UNIPROT:Q15438
OMIM:182115
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9267
21
14
108226 bp
46.41
10
--
4
11
CYTH1 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
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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
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Year
IF
No Data Found!
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