Description: Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. RefSeq Summary (NM_001164665): The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]. Transcript (Including UTRs) Position: hg19 chr7:138,516,127-138,666,064 Size: 149,938 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr7:138,522,651-138,666,015 Size: 143,365 Coding Exon Count: 20
ID:K1549_HUMAN DESCRIPTION: RecName: Full=UPF0606 protein KIAA1549; SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). DISEASE: Note=A chromosomal aberration involving KIAA1549 is found in pilocytic astrocytoma. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. SIMILARITY: Belongs to the UPF0606 family. SEQUENCE CAUTION: Sequence=AAH38232.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Genetic Association Studies of Complex Diseases and Disorders
Electrocardiography Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
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.
Pfam Domains: PF12877 - Domain of unknown function (DUF3827)
ModBase Predicted Comparative 3D Structure on Q9HCM3
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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.