title: Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3.
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 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 bp 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.
authors.affiliation: Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.
authors.forename: Kazunori
authors.initials: K
authors.lastname: Shibuya
authors.forename: Kentaro
authors.initials: K
authors.lastname: Nagamine
authors.forename: Michiyo
authors.initials: M
authors.lastname: Okui
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Ohsawa
authors.forename: Shuichi
authors.initials: S
authors.lastname: Asakawa
authors.forename: Shinsei
authors.initials: S
authors.lastname: Minoshima
authors.forename: Tetsu
authors.initials: T
authors.lastname: Hase
authors.forename: Jun
authors.initials: J
authors.lastname: Kudoh
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Shimizu
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001789:Blood Group Antigens / Q000235:genetics / Q000378:metabolism; D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D004314:Down Syndrome / Q000235:genetics; D005091:Exons; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009088:Mucoproteins / Q000235:genetics* / Q000378:metabolism; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D011499:Protein Processing, Post-Translational; D012333:RNA, Messenger / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013347:Subcellular Fractions / Q000737:chemistry / Q000378:metabolism; D014018:Tissue Distribution; D058949:Uromodulin
chemical_list: D001789:Blood Group Antigens; D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; D009088:Mucoproteins; D020033:Protein Isoforms; D012333:RNA, Messenger; C548612:UMOD protein, human; C488198:UMODL1 protein, human; D058949:Uromodulin