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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
ESPL1 - Extra Spindle Pole Bodies Like 1, Separase
Alias:
ESP1
SEPA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
姐妹染色单体在减数分裂前紧密连接并在减数分裂过程中及时分离对于染色体继承至关重要。在脊椎动物中,姐妹染色单体连接通过两个不同的机制分两个步骤释放。第一步涉及在cohesin复合体中磷酸化STAG1(MIM 604358)或STAG2(MIM 300826)。第二步涉及由ESPL1或分离酶切割cohesin亚单位SCC1(RAD21;MIM 606462),这开始了姐妹染色单体的最终分离(Sun等人,2009年[PubMed 19345191])。[由OMIM于2010年11月提供]
Related ID:
NCBI:9700
ENSEMBL:ENSG00000135476
HGNC:16856
UNIPROT:Q14674
OMIM:604143
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9700
5
31
25340 bp
233.18
68
--
7
13
ESPL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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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
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No data available
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Status
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Link
No data available
References Literature
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IF
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