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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
HYOU1 - Hypoxia Up-regulated 1
Alias:
IMD59
Grp170
HSP12A
ORP150
GRP-170
ORP-150
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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属于热休克蛋白70家族。这个基因使用替代的转录起始位点。在5'UTR中发现的顺式作用片段参与应激依赖的诱导,导致在低氧条件下在内质网(ER)中积累这种蛋白质。这个基因编码的蛋白质被认为在ER中的蛋白质折叠和分泌中扮演重要角色。由于蛋白质的抑制与加速的凋亡相关,因此也被认为在低氧诱导的细胞紊乱中具有重要的细胞保护作用。这个蛋白质在肿瘤中上调,尤其是在乳腺癌中,因此与肿瘤侵袭性有关。这个基因还有替代的翻译起始位点,导致缺乏N端信号肽的蛋白质。这个缺乏信号肽的蛋白质比ER中的成熟蛋白质短3个氨基酸,被认为在细胞质中具有家务功能。在大鼠中,这个蛋白质通过羧基端肽序列定位到内质网,通过氨基端靶向信号定位到线粒体。替代剪接产生多种转录变异体。[RefSeq,2014年3月提供]
Related ID:
NCBI:10525
ENSEMBL:ENSG00000149428
HGNC:16931
UNIPROT:Q9Y4L1
OMIM:601746
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10525
9
26
13018 bp
111.33
432
1
5
17
HYOU1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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