ID:SMHD1_HUMAN DESCRIPTION: RecName: Full=Structural maintenance of chromosomes flexible hinge domain-containing protein 1; FUNCTION: Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de novo methyltransferase DNMT3B (By similarity). SUBCELLULAR LOCATION: Chromosome (By similarity). Note=Localizes to Barr body (By similarity). SEQUENCE CAUTION: Sequence=BAB15202.1; Type=Erroneous initiation; Sequence=BC035774; Type=Frameshift; Positions=1730; Sequence=CAH10538.1; Type=Erroneous initiation;
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: PF06470 - SMC proteins Flexible Hinge Domain PF13589 - Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
SCOP Domains: 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 75553 - Smc hinge domain
ModBase Predicted Comparative 3D Structure on A6NHR9
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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.
Biological Process: GO:0009048 dosage compensation by inactivation of X chromosome GO:0043584 nose development GO:0051276 chromosome organization GO:0060821 inactivation of X chromosome by DNA methylation