Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06889 (Mol)
 630,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Parallel analyses of DNA copy number and mRNA expression level by using microarray measurements have been successfully applied for genome-wide screening of proto-oncogenes and tumor suppressor genes. The uncharacterized KIAA0456 cDNA was reported amplified and overexpressed in human breast cancer cell lines UACC812 and ZR-75-1. Here, we characterized the gene corresponding to KIAA0456 cDNA by using bioinformatics. KIAA0456 cDNA was found derived from the FNBP2 gene, consisting of 22 exons. FNBP2 gene was linked to IKBKE and NORE1 genes on human chromosome 1q32.1. FNBP2 mRNA was expressed in melanoma, germ cell tumors, chondrosarcoma and retinoblastoma. ARHGAP13/SRGAP1, ARHGAP14/SRGAP2 and ARHGAP4 cDNAs were homologous to FNBP2/KIAA0456 cDNA. KIAA1304 cDNA was a splicing variant derived from the ARHGAP13 gene, and the nucleotide sequence of representative ARHGAP13 cDNA was determined by assembling EST BU520980 and KIAA1304 cDNA. FNBP2 (1071 aa), ARHGAP13 (1062 aa), ARHGAP14 (1099 aa) and ARHGAP4 (946 aa) constitute the FNBP2 family characterized by FCH, RhoGAP and SH3 domains. The region corresponding to codon 227-345 of FNBP2 was conserved among FNBP2 family proteins as well as FNBP1 and TRIP10 proteins. Because FNBP2 and FNBP1 are formin-binding proteins, the region corresponding to codon 227-345 of FNBP2 was designated FNBP2-FNBP1 homologous (FBH) domain. FNBP2 family proteins consist of FCH, FBH, RhoGAP and SH3 domains, while FNBP1 family proteins (FNBP1 and TRIP10) consist of FCH, FBH and SH3 domains. This is the first report on comprehensive characterization of FNBP2 gene as well as on identification of the FBH domain.
Int J Mol Med 2003 Jun
PMID:FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains. 1273 24

FNBP1 and FNBP2 are SH3-type Formin-binding proteins. FNBP1 consists of FCH, FBH, HR1 and SH3 domains, while FNBP2 consists of FCH, FBH, RhoGAP and SH3 domains. Here, we identified novel genes FCHSD1 and FCHSD2, which were distantly related to FNBP1 and FNBP2. FCHSD1 and FCHSD2 genes with conserved exon-intron structure were located at human chromosome 5q31.3 and 11q13.4, respectively. Complete coding sequence of human FCHSD1 was derived from FLJ00007 (NM_033449.1) cDNA. KIAA0769 (NM_014824.1), encoding N-terminally truncated 684-aa protein, was an aberrant human FCHSD2 cDNA with a frame shift due to skipping of 98-bp exon 2. Complete coding sequence of human FCHSD2 cDNA was determined by assembling CF995054 EST and KIAA0769 cDNA. A030002D08Rik (NM_175684.3) was the representative mouse Fchsd1 cDNA, while BC034086 (NM_199012.1) was a variant mouse Fchsd2 cDNA with an insertion of 72-bp additional exon. CG4684 was the Drosophila homolog of mammalian FCHSD family genes. Human FCHSD1 (690 aa) showed 41.7% total-amino-acid identity with human FCHSD2 (740 aa), and 91.0% total-amino-acid identity with mouse Fchsd1. Human FCHSD2 showed 96.5% total-amino-acid identity with mouse Fchsd2. Mammalian FCHSD family proteins shared the common domain structure consisting of FCH, FBH, two SH3 and C-terminal Proline-rich domains. FCHSD family proteins (FCHSD1 and FCHSD2), FNBP1 family proteins (FNBP1, FNBP1L and TRIP10/CIP4) and FNBP2 family proteins (FNBP2, ARHGAP13/SRGAP1, ARHGAP14/SRGAP2 and ARHGAP4) were found constituting the FCFBS superfamily characterized by FCH, FBH and SH3 domains. This is the first report on identification and characterization of the FCHSD family genes.
Int J Mol Med 2004 May
PMID:Identification and characterization of human FCHSD1 and FCHSD2 genes in silico. 1506 81

FNBP1, FNBP1L, CIP4/TRIP10, FNBP2, SRGAP1/ARHGAP13, SRGAP2/ARHGAP14, ARHGAP4, FCHSD1, and FCHSD2 constitute the FCFBS superfamily characterized by FES-CIP4 homology (FCH) domain, Formin-binding FNBP1-FNBP2 homology (FBH) domain, and SRC homology 3 (SH3) domain. During genome-wide searching for human genes encoding FCH domain molecules, we identified the FCHO2 gene by using bioinformatics. DKFZp451B033 (AL831971.1) was the representative cDNA derived from human FCHO2 gene, while FLJ32208 (AK056770.1) was a chimeric cDNA generated by the recombination between FCHO2 and CSH1 genes. MGC63242 (BC052456.1) rather than 5832424M12 (AK031041.1) was the representative cDNA derived from mouse Fcho2 gene. FCHO2 gene, consisting of 26 exons, was mapped to human chromosome 5q13.2. Human FCHO2 (810 aa) showed 94.6% total-amino-acid identity with mouse Fcho2 (809 aa), and 50.4% total-amino-acid identity with human FCHO1. Drosophila CG8176 (NP_788613.1) and C. elegans 2B609 (NP_493947.1) were homologs of mammalian FCHO2 and FCHO1. FCHO-homologous (FOH) domain (codon 527-810 of human FCHO2) was identified as the novel domain conserved among FCHO homologs. Human FCHO2, FCHO1, Drosophila CG8176 and C. elegans 2B609 were found consisting of N-terminal FCH domain and C-terminal FOH domain. This is the first report on identification and characterization of evolutionarily conserved FCHO homologs as well as the novel FOH domain.
Int J Mol Med 2004 Aug
PMID:Identification and characterization of human FCHO2 and mouse Fcho2 genes in silico. 1525 87

ARHGAP1, ARHGAP2, ARHGAP3, ARHGAP4, ARHGAP5, ARHGAP6, ARHGAP7 (DLC1), ARHGAP8, ARHGAP9, ARHGAP10, ARHGAP12, ARHGAP13 (SRGAP1), ARHGAP14 (SRGAP2), ARHGAP15, ARHGAP17 (RICH1), ARHGAP18, ARHGAP19, ARHGAP20, ARHGAP21, ARHGAP22, ARHGAP23, ARHGAP24, ARHGAP25, ARHGAP26, STARD13 (DLC2), HA-1, GMIP, PARG1, RACGAP1, PIK3R1, PIK3R2, and FNBP2 genes encode Rho/Rac/Cdc42-like GTPase activating (RhoGAP) proteins. Here, we characterized human ARHGAP27 gene by using bioinformatics. Complete coding sequence of ARHGAP27 isoform 1, encoding a full-length 889-aa protein, was determined by assembling exon 1 (nucleotide position 143440-144096 of AC091132.16) and most part of FLJ43547 cDNA (nucleotide position 69-3628 of AK125535.1). Complete coding sequence of ARHGAP27 isoform 2, encoding an N-terminally truncated 548-aa protein, was derived from FLJ43547 cDNA. ARHGAP27 isoform 1 consists of exons 1-17, while ARHGAP27 isoform 2 consists of exons 1B, and 2-17. ARHGAP27 gene encoded two isoforms due to alternative splicing of alternative promoter type. ARHGAP27 mRNA was expressed in germinal center B cell, spleen, chronic lymphocytic leukemia, pancreatic cancer, and lung cancer. LOC303583 (NM_ 198759.1) was the representative rat Arhgap27 cDNA. Human ARHGAP27 showed 84.3% total-amino-acid identity with rat Arhgap27, and 39.0% total-amino-acid identity with human ARHGAP12. ARHGAP27 and ARHGAP12 shared the common-domain structure, consisting of SH3, WW, PH, and RhoGAP domains. ARHGAP27 gene was located at human chromosome 17q21, while ARHGAP12 gene was located at human chromosome 10p11. ARHGAP family genes are cancer-associated genes, because their genetic alterations lead to carcinogenesis through the dysregulation of Rho/Rac/ Cdc42-like GTPases. This is the first report on identification and characterization of the ARHGAP27 gene.
Int J Mol Med 2004 Nov
PMID:Identification and characterization of ARHGAP27 gene in silico. 1549 70