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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
C1QBP - Complement C1q Binding Protein
Alias:
p32
HABP1
gC1qR
GC1QBP
SF2p32
gC1Q-R
COXPD33
SF2AP32
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
人类补体亚成分C1q与C1r和C1s结合,以产生血清补体系统的第一成分。这个基因编码的蛋白质已知可以与C1q分子的球形头部结合并抑制C1的激活。这个蛋白质还被鉴定为pre-mRNA剪接因子SF2的p32亚基,以及一种透明质酸结合蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:708
ENSEMBL:ENSG00000108561
HGNC:1243
UNIPROT:Q07021
OMIM:601269
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
708
1
6
6379 bp
31.36
111
1
8
55
C1QBP 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
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Alphabetical
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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CAS Number
Status
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Link
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References Literature
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