PUBLICATION
Identification and characterization of human GUKH2 gene in silico
- Authors
- Katoh, M., and Katoh, M.
- ID
- ZDB-PUB-040312-10
- Date
- 2004
- Source
- International Journal of Oncology 24(4): 1033-1038 (Journal)
- Registered Authors
- Katoh, Masaru
- Keywords
- none
- MeSH Terms
-
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 6/genetics
- Computational Biology
- DNA, Complementary
- Drosophila Proteins/chemistry
- Drosophila Proteins/genetics
- Drosophila melanogaster
- Exons
- Guanylate Kinases
- Humans
- Introns
- Mice
- Molecular Sequence Data
- Nucleoside-Phosphate Kinase/chemistry
- Nucleoside-Phosphate Kinase/genetics*
- Sequence Homology, Amino Acid
- Zebrafish
- PubMed
- 15010845 Full text @ Int. J. Oncol.
Citation
Katoh, M., and Katoh, M. (2004) Identification and characterization of human GUKH2 gene in silico. International Journal of Oncology. 24(4):1033-1038.
Abstract
Drosophila Guanylate-kinase holder (Gukh) is an adaptor molecule bridging Discs large (Dlg) and Scribble (Scrib), which are implicated in the establishment and maintenance of epithelial polarity. Here, we searched for human homologs of Drosophila gukh by using bioinformatics, and identified GUKH1 and GUKH2 genes. GUKH1 was identical to Nance-Horan syndrome (NHS) gene, while GUKH2 was a novel gene. FLJ35425 (AK092744.1), DKFZp686P1949 (BX647246.1) and KIAA1357 (AB037778.1) cDNAs were derived from human GUKH2 gene. Nucleotide sequence of GUKH2 cDNA was determined by assembling 5'-part of FLJ35425 cDNA and entire region of DKFZp686P1949 cDNA. Human GUKH2 gene consists of 8 exons. Exon 5 (132 bp) of GUKH2 gene was spliced out in GUKH2 cDNA due to alternative splicing. GUKH2-REPS1 locus at human chromosome 6q24.1 and GUKH1-REPS2 locus at human chromosome Xp22.22-p22.13 are paralogous regions within the human genome. Mouse Gukh2 and zebrafish gukh2 genes were also identified. N-terminal part of human GUKH2, mouse Gukh2 and zebrafish gukh2 proteins were completely divergent from human GUKH1 protein. Human GUKH2 and GUKH1, consisting of eight GUKH homology (GKH1-GKH8) domains and Proline-rich domain, showed 28.5% total-amino-acid identity. GKH1, GKH4, GKH5, GKH7 and GKH8 domains were conserved among human GUKH1, human GUKH2 and Drosophila Gukh. Because human homologs of Drosophila dlg (DLG1-DLG7) as well as human homologs of Drosophila scrib (SCRIB, ERBB2IP and Densin-180) are cancer-associated genes, human homologs of Drosophila gukh (GUKH1 and GUKH2) are predicted cancer-associated genes.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping