Human Gene DBC1 (uc004bkc.2) Description and Page Index
Description: Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. RefSeq Summary (NM_014618): This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.100445.1, SRR1803617.54931.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145544, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000265922.8/ ENSP00000265922.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr9:121,928,908-122,131,739 Size: 202,832 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr9:121,929,362-122,075,633 Size: 146,272 Coding Exon Count: 7
ID:DBC1_HUMAN DESCRIPTION: RecName: Full=Deleted in bladder cancer protein 1; AltName: Full=Protein FAM5A; Flags: Precursor; FUNCTION: Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway. INTERACTION: Q5BKZ1:ZNF326; NbExp=5; IntAct=EBI-3904864, EBI-2560158; SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine. MISCELLANEOUS: DBC1 is silenced by methylation in 50% of bladder cancer cell lines. SIMILARITY: Belongs to the FAM5 family. SIMILARITY: Contains 1 MACPF domain.
Genetic Association Studies of Complex Diseases and Disorders
Asthma Medea Imboden et al. The Journal of allergy and clinical immunology 2012, Genome-wide association study of lung function decline in adults with and without asthma., The Journal of allergy and clinical immunology.
Genetic heterogeneity of lung function might be extensive. Our results suggest that genetic determinants of longitudinal and cross-sectional lung function differ and vary by asthma status.
Cornea Karolina Aberg et al. Biological psychiatry 2010, Genomewide association study of movement-related adverse antipsychotic effects., Biological psychiatry.
Although our findings require replication and validation, this study demonstrates the potential of genomewide association studies to discover genes and pathways that mediate adverse effects of antipsychotics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60477
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.