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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
CTSF - Cathepsin F
Alias:
CATSF
CLN13
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
组织蛋白酶是木瓜蛋白酶家族的半胱氨酸蛋白酶,是溶酶体蛋白水解系统的主要组成部分。组织蛋白酶通常包含一个信号序列,后面是一个前肽,然后是一个具有催化活性的成熟区域。组织蛋白酶F前体的非常长的(251个氨基酸残基)前区域包含一个类似于组织蛋白酶L类酶的前片段的C-末端结构域,一个50个残基的柔性连接肽,和一个预测采用胱氨酸蛋白酶抑制剂样折叠的N-末端结构域。在木瓜蛋白酶家族半胱氨酸蛋白酶中,组织蛋白酶F前区域是独特的,因为它包含这个额外的预测具有与胱氨酸蛋白酶抑制剂超家族的结构相似性的N-末端片段。这个胱氨酸蛋白酶抑制剂样结构域包含一些已知对抑制活性重要的元素。CTSF编码一个预测的484个氨基酸的蛋白质,包含一个19个残基的信号肽。组织蛋白酶F包含五个潜在的N-糖基化位点,它可能通过甘露糖-6-磷酸受体途径靶向内质网/溶酶体复合室。组织蛋白酶F基因在染色体11q13上普遍表达,靠近编码组织蛋白酶W的基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8722
ENSEMBL:ENSG00000174080
HGNC:2531
UNIPROT:Q9UBX1
OMIM:603539
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
8722
2
13
5143 bp
53.37
202
1
3
11
CTSF Genetics information (-)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
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