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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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HSPA5 - Heat Shock Protein Family A (Hsp70) Member 5
Alias:
BIP
GRP78
HEL-S-89n
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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是热休克蛋白70(HSP70)家族的一员。这个蛋白质定位在内质网(ER)的内腔中,作为典型的HSP70分子伴侣,参与ER中蛋白质折叠和组装,是ER稳态的主要调节因子。在细胞应激期间,如病毒感染或肿瘤发生期间,这个蛋白质与跨膜应激传感器蛋白PERK(蛋白激酶R样内质网激酶)、IRE1(需要肌醇的激酶1)和ATF6(激活转录因子6)相互作用,作为未折叠蛋白质应答(UPR)的抑制物,并在细胞凋亡和衰老中发挥作用。据报道,在病毒感染和一些类型癌细胞中,这个蛋白质的升高表达和异常定位到细胞表面。在细胞表面,这个蛋白质可能有助于病毒附着和进入宿主细胞。这个基因是治疗冠状病毒疾病和化学耐药性癌症的治疗靶点。[RefSeq,2020年7月提供]
Related ID:
NCBI:3309
ENSEMBL:ENSG00000044574
HGNC:5238
UNIPROT:P11021
OMIM:138120
Basic Information
NCBI
Transcripts
Exons
Length
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Mutations
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Reference
3309
1
8
6491 bp
72.33
11
--
10
54
HSPA5 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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