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

Kazunori Shibuya, Kentaro Nagamine, Michiyo Okui, Yosuke Ohsawa, Shuichi Asakawa, Shinsei Minoshima, Tetsu Hase, Jun Kudoh, Nobuyoshi Shimizu

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


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 80kb 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 3741bp 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.

Original languageEnglish
Pages (from-to)1181-1189
Number of pages9
JournalBiochemical and Biophysical Research Communications
Issue number4
Publication statusPublished - 2004 Jul 9


  • Bipolar affective disorder
  • Chromosome 21
  • Down syndrome
  • Ubiquitination

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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