Cloning and characterization of a novel human gene RNF38 encoding a conserved putative protein with a RING finger domain

Cloning and characterization of a novel human gene RNF38 encoding a conserved putative protein with a RING finger domain
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DOI:
10.1016/s0006-291x(02)00584-3
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发表时间:
2002-06-28
影响因子:
3.1
通讯作者:
Mitrani-Rosenbaum, S
Mitrani-Rosenbaum, S
中科院分区:
生物学4区
文献类型:
--
作者:
Eisenberg, I;Hochner, H;Mitrani-Rosenbaum, S

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RING FING(C3HC4型锌指)是一种变异的锌指基序,存在于一个功能不同的蛋白质大家族中。我们描述了一个新的人类转录本RNF38的克隆和特性,该转录本编码一个新的环指蛋白家族成员。该基因全长约6.8kb,在人体组织中以单一转录本的形式广泛表达,在睾丸中含量最高。预测的富含脯氨酸的蛋白质由432个氨基酸残基组成,在其羧基末端有一个卷曲的卷曲基序和一个环-H2基序(C3H2 C2)。在人类蛋白质与其他几个物种的假想肽之间发现了高度的同源性,包括褐家鼠、小鼠和黑腹果蝇,这表明在整个进化过程中存在显著的保守性。确定了RNF38的基因组结构,它包括至少13个外显子,延伸超过65kb,78kb的着丝粒位于人类染色体9p12-p13上的Gne基因。这一染色体片段在许多人类疾病中的参与,特别是在各种类型的恶性肿瘤中,促使人们对RNF38在这些疾病中的潜在功能作用进行评估。(C)2002年埃尔塞维尔科学公司(美国)。版权所有。
RING finger (C3HC4-type zinc finger) is a variant zinc finger motif present in a large family of functionally distinct proteins. We describe the cloning and characterization of a novel human transcript RNF38 encoding a new member of the RING finger protein family. The complete mRNA consists of about 6.8 kb widely expressed in human tissues as a single transcript, most abundantly in testis. The predicted proline-rich protein consists of 432 amino acid residues with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. High degree homology was found between the human protein and hypothetical peptides from several other species including Rattus norvegicus, Mus musculus, and Drosophila melanogaster, indicating a significant conservation throughout evolution. The RNF38 genomic structure was determined and comprises at least 13 exons extending over more than 65 kb in the genome, 78 kb centromeric to the GNE gene on human chromosome 9p12-p13. The involvement of this chromosomal segment in a large number of human diseases and in particular in various types of malignancies urges the assessment of the potential functional role of RNF38 in these disorders. (C) 2002 Elsevier Science (USA). All rights reserved.