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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
ERVW-1 - Endogenous Retrovirus Group W Member 1, Envelope
Alias:
ENV
ENVW
HERVW
ERVWE1
HERV7Q
HERV-7q
HERVWENV
HERV-W-ENV
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
人类内源性逆转录病毒(HERV)家族在正常胎盘组织中高表达,提示HERV在生殖功能中具有重要作用。该基因位于第7染色体上的HERV原病毒上,其gag和pol基因具有失活突变。该基因编码包膜糖蛋白基因,似乎得到了选择性保留。该基因的蛋白质产物在胎盘合胞滋养层中表达,并参与合胞滋养层细胞融合以形成胎盘的合胞层。该蛋白质具有典型的逆转录病毒包膜蛋白质的特征,包括分离表面(SU)和跨膜(TM)蛋白质的纤蛋白切割位点,这些蛋白质形成异源二聚体。已发现该基因的编码相同蛋白质的可变剪接转录变异体。[RefSeq,2010年3月提供]
Related ID:
NCBI:30816
ENSEMBL:ENSG00000242950
HGNC:13525
UNIPROT:Q9UQF0
OMIM:604659
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
30816
2
2
9567 bp
59.87
1
--
--
20
ERVW-1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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