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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
BANF1 - BAF Nuclear Assembly Factor 1
Alias:
BAF
NGPS
BCRP1
D14S1460
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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最初被鉴定出是因为它能够保护逆转录病毒免受分子内整合的影响,从而促进逆转录病毒在宿主细胞基因组中的分子间整合。这种蛋白质形成同源二聚体,定位在细胞核和细胞质中,在有丝分裂过程中特异性地与染色体相关联。这种蛋白质以非特异性方式与双链DNA结合,同时也与核膜的含有LEM结构的蛋白质结合。这种蛋白质被认为通过与DNA和内核膜蛋白结合来促进核重组,从而将染色质招募到核周。可变剪接导致编码相同蛋白质的多种转录变异体。[由RefSeq,2009年1月提供]
Related ID:
NCBI:8815
ENSEMBL:ENSG00000175334
HGNC:17397
UNIPROT:O75531
OMIM:603811
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8815
3
3
2071 bp
10.06
34
1
2
33
BANF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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