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 - Kudoh, Jun
AU - Shimizu, Nobuyoshi
N1 - Funding Information:
We thank Ms. Mio Mejima for excellent technical assistance. This work was supported in part by Grant-in-Aid for Scientific Research on Priority Areas “Medical Genome Science” from the Ministry of Education, Culture, Sports, Science and Technology of Japan (MEXT); and Fund for “Research for the Future” Program from the Japan Society for the Promotion of Science (JSPS) and MEXT.
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
C2 - 15194491
AN - SCOPUS:2942604996
VL - 319
SP - 1181
EP - 1189
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 4
ER -