Description: Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. RefSeq Summary (NM_133459): This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr18:57,098,171-57,364,644 Size: 266,474 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr18:57,103,140-57,364,574 Size: 261,435 Coding Exon Count: 11
ID:CCBE1_HUMAN DESCRIPTION: RecName: Full=Collagen and calcium-binding EGF domain-containing protein 1; AltName: Full=Full of fluid protein homolog; Flags: Precursor; FUNCTION: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. SUBCELLULAR LOCATION: Secreted (Potential). TISSUE SPECIFICITY: Not expressed in blood or lymphatic endothelial cells. DISEASE: Defects in CCBE1 are the cause of Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]. HLLS is a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation. SIMILARITY: Belongs to the CCBE1 family. SIMILARITY: Contains 2 collagen-like domains. SIMILARITY: Contains 1 EGF-like domain. SEQUENCE CAUTION: Sequence=BAB85569.1; Type=Erroneous initiation;
Apolipoproteins B Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
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 Q6UXH8
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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.
US Server
