Description: Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. RefSeq Summary (NM_025137): The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. Transcript (Including UTRs) Position: hg19 chr15:44,854,894-44,955,876 Size: 100,983 Total Exon Count: 40 Strand: - Coding Region Position: hg19 chr15:44,855,319-44,955,845 Size: 100,527 Coding Exon Count: 40
ID:SPTCS_HUMAN DESCRIPTION: RecName: Full=Spatacsin; AltName: Full=Colorectal carcinoma-associated protein; AltName: Full=Spastic paraplegia 11 protein; SUBUNIT: Interacts with AP5Z1, AP5B1, AP5S1 and ZFYVE26. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytosol. Nucleus. Note=Mainly cytoplasmic. TISSUE SPECIFICITY: Expressed in all structures of brain, with a high expression in cerebellum. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in SPG11 are the cause of spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SEQUENCE CAUTION: Sequence=AAH24161.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAX54692.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC03600.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPG11";
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 Q96JI7
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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
