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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
NARF - Nuclear Prelamin A Recognition Factor
Alias:
IOP2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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Related Drugs
References Literature
几种蛋白质被发现在其羧基端被预烯基化和甲基化。最初认为预烯基化仅对膜附着重要。然而,预烯基化的另一个作用似乎是在蛋白质-蛋白质相互作用中的重要性。已知唯一在哺乳动物细胞中核蛋白被预烯基化的是前Lamin A型和B型lamins。前lamin A在羧基端CaaX模序的半胱氨酸残基上被法尼基化和羧甲基化。当它被内切蛋白酶加工成成熟的lamin A时,这个翻译后修饰的半胱氨酸残基会从前lamin A中移除。这个基因编码的蛋白质结合到预烯基化的前lamin A羧基端尾结构域。它可能是前lamin A内切蛋白酶复合物的组成部分。编码的蛋白质位于核中,其中它与核层部分共定位。它与仅具有铁的细菌氢酶具有有限的序列相似性。已经发现了这个基因的不同剪接转录变体,包括一个具有通过RNA编辑生成的新的外显子的转录变体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:26502
ENSEMBL:ENSG00000141562
HGNC:29916
UNIPROT:Q9UHQ1
OMIM:605349
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
26502
8
11
32340 bp
51.16
28
--
2
5
NARF Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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