2004年7月
Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
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- 巻
- 319
- 号
- 4
- 開始ページ
- 1181
- 終了ページ
- 1189
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1016/j.bbrc.2004.05.094
- 出版者・発行元
- ACADEMIC PRESS INC ELSEVIER SCIENCE
We have isolated a novel gene, designated UMODL1, similar to uromodulin (UMOD)/Tamm-Horsfall glycoprotein, on human chromosome 21q22.3. Uromodulin like-1 (UMODL1) consists of 22 exons and spans approximately 80 kb in a direction from centromere to telomere. Two major transcripts produced by alternative splicing have been identified. These transcripts contain open reading frames of 4125 and 3741 by encoding proteins of 1374 and 1246 amino acids, respectively. Expression of UMODL1 mRNA was detected only in 14 human tissues, e.g., kidney, testis, and fetal thymus at low level. Interestingly, two gene products (UMODL1L and UMODL1S) contain multiple domains including whey acidic protein, sea urchin sperm protein, enterokinase, and agrin, zona pellucida domain, and so on. Both proteins seemed to localize in cytoplasm, but UMODL1 is likely to be ubiquitinated and rapidly degraded in HEK293 cells. This gene may be a potent candidate for Down syndrome or bipolar affective disorder. (C) 2004 Elsevier Inc. All rights reserved.
- リンク情報
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- DOI
- https://doi.org/10.1016/j.bbrc.2004.05.094
- CiNii Articles
- http://ci.nii.ac.jp/naid/80016780270
- PubMed
- https://www.ncbi.nlm.nih.gov/pubmed/15194491
- Web of Science
- https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000222318700016&DestApp=WOS_CPL
- ID情報
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- DOI : 10.1016/j.bbrc.2004.05.094
- ISSN : 0006-291X
- CiNii Articles ID : 80016780270
- PubMed ID : 15194491
- Web of Science ID : WOS:000222318700016