Human Gene SYT14 (ENST00000367019.6) from GENCODE V44
Description: Homo sapiens synaptotagmin 14 (SYT14), transcript variant 3, mRNA. (from RefSeq NM_001146262) RefSeq Summary (NM_001146262): This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]. Gencode Transcript: ENST00000367019.6 Gencode Gene: ENSG00000143469.21 Transcript (Including UTRs) Position: hg38 chr1:209,938,217-210,171,315 Size: 233,099 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr1:209,938,265-210,161,042 Size: 222,778 Coding Exon Count: 9
ID:SYT14_HUMAN DESCRIPTION: RecName: Full=Synaptotagmin-14; AltName: Full=Synaptotagmin XIV; Short=SytXIV; FUNCTION: May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent. SUBUNIT: Homodimer. Can also form heterodimers (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein. Note=Localized in perinuclear and submembranous regions. TISSUE SPECIFICITY: Highly expressed in fetal and adult brain tissue. DISEASE: Defects in SYT14 are the cause of spinocerebellar ataxia autosomal recessive type 11 (SCAR11) [MIM:614229]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation. SIMILARITY: Belongs to the synaptotagmin family. SIMILARITY: Contains 2 C2 domains.
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 Q8NB59
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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.