Abstract
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 language | English |
|---|---|
| Pages (from-to) | 1181-1189 |
| Number of pages | 9 |
| Journal | Biochemical and Biophysical Research Communications |
| Volume | 319 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2004 Jul 9 |
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Keywords
- Bipolar affective disorder
- Chromosome 21
- Down syndrome
- Ubiquitination
ASJC Scopus subject areas
- Biochemistry
- Biophysics
- Molecular Biology
Cite this
Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. / Shibuya, Kazunori; Nagamine, Kentaro; Okui, Michiyo; Ohsawa, Yosuke; Asakawa, Shuichi; Minoshima, Shinsei; Hase, Tetsu; Kudo, Jun; Shimizu, Nobuyoshi.
In: Biochemical and Biophysical Research Communications, Vol. 319, No. 4, 09.07.2004, p. 1181-1189.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3
AU - Shibuya, Kazunori
AU - Nagamine, Kentaro
AU - Okui, Michiyo
AU - Ohsawa, Yosuke
AU - Asakawa, Shuichi
AU - Minoshima, Shinsei
AU - Hase, Tetsu
AU - Kudo, Jun
AU - Shimizu, Nobuyoshi
PY - 2004/7/9
Y1 - 2004/7/9
N2 - 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.
AB - 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.
KW - Bipolar affective disorder
KW - Chromosome 21
KW - Down syndrome
KW - Ubiquitination
UR - http://www.scopus.com/inward/record.url?scp=2942604996&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=2942604996&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2004.05.094
DO - 10.1016/j.bbrc.2004.05.094
M3 - Article
VL - 319
SP - 1181
EP - 1189
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 4
ER -