人类

DNASE1 - Deoxyribonuclease 1

Alias:
DNL1
DRNI
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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DNase家族的一员。这种蛋白质储存在核膜的酶原颗粒中,并通过切割DNA的内切核酸方式进行作用。已经鉴定出至少六种常染色体共显性等位基因,从DNASE1*1到DNASE1*6,并且这个记录中代表了DNASE1*2的序列。这个基因的突变与系统性红斑狼疮(SLE),一种自身免疫性疾病有关。这个蛋白质的重组形式通过水解痰液中的细胞外DNA并降低其粘度,用于治疗囊性纤维化的一种症状。已经观察到了这个基因的替代转录剪接变异体,但尚未进行全面研究。[由RefSeq,2008年7月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
15
9
53702 bp
31.43
105
4
10
15

DNASE1 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
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
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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Mutation Direct
Sequence
Comparison
Al agent
Tutorials
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