ID:OBSL1_HUMAN DESCRIPTION: RecName: Full=Obscurin-like protein 1; Flags: Precursor; SUBUNIT: Interacts with CCDC8 and CUL7. TISSUE SPECIFICITY: Widely expressed, with predominant levels found in the heart. DISEASE: Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:612921]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. SIMILARITY: Contains 1 fibronectin type-III domain. SIMILARITY: Contains 11 Ig-like (immunoglobulin-like) domains. SEQUENCE CAUTION: Sequence=AAH07201.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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 O75147
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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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
