Human Gene STX11 (ENST00000367568.5) from GENCODE V44
Description: Homo sapiens syntaxin 11 (STX11), mRNA. (from RefSeq NM_003764) RefSeq Summary (NM_003764): This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000367568.5 Gencode Gene: ENSG00000135604.11 Transcript (Including UTRs) Position: hg38 chr6:144,150,517-144,191,939 Size: 41,423 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr6:144,186,628-144,187,491 Size: 864 Coding Exon Count: 1
ID:STX11_HUMAN DESCRIPTION: RecName: Full=Syntaxin-11; FUNCTION: SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. SUBUNIT: Interacts with the SNARE proteins SNAP-23 and VAMP. SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein (Potential). Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein (By similarity). DISEASE: Defects in STX11 are the cause of familial hemophagocytic lymphohistiocytosis type 4 (FHL4) [MIM:603552]; also known as HPLH4. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is also found. SIMILARITY: Belongs to the syntaxin family. SIMILARITY: Contains 1 t-SNARE coiled-coil homology domain. WEB RESOURCE: Name=STX11base; Note=STX11 mutation db; URL="http://bioinf.uta.fi/STX11base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STX11";
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 O75558
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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:0006886 intracellular protein transport GO:0015031 protein transport GO:0016192 vesicle-mediated transport GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane GO:0048278 vesicle docking GO:0061025 membrane fusion
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