MISC

2004年7月

Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
  • K Shibuya
  • ,
  • K Nagamine
  • ,
  • M Okui
  • ,
  • Y Ohsawa
  • ,
  • S Asakawa
  • ,
  • S Minoshima
  • ,
  • T Hase
  • ,
  • J Kudoh
  • ,
  • N Shimizu

319
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
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
  • DOI : 10.1016/j.bbrc.2004.05.094
  • ISSN : 0006-291X
  • CiNii Articles ID : 80016780270
  • PubMed ID : 15194491
  • Web of Science ID : WOS:000222318700016

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