Gene Information | |
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Gene Name | D0S117E |
Organism | Homo sapiens (Human) |
Gene Length | 649 |
Protein Names | Drebrin (Developmentally-regulated brain protein) |
Target Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | Q16643 |
Gene Card | DBN1 |
Uniprot ID | Q16643 |
Pfam | PF00241 |
In ASD | no |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
Tissue Specificity | Expressed in the brain, with expression in the molecular layer of the dentate gyrus, stratum pyramidale, and stratum radiatum of the hippocampus (at protein level) (PubMed:8838578). Also expressed in the terminal varicosities distributed along dendritic trees of pyramidal cells in CA4 and CA3 of the hippocampus (at protein level) (PubMed:8838578). Expressed in pyramidal cells in CA2, CA1 and the subiculum of the hippocampus (at protein level) (PubMed:8838578). Expressed in peripheral blood lymphocytes, including T-cells (at protein level) (PubMed:20215400). Expressed in the brain (PubMed:8216329, Ref.2). Expressed in the heart, placenta, lung, skeletal muscle, kidney, pancreas, skin fibroblasts, gingival fibroblasts and bone-derived cells (Ref.2). {ECO:0000269|PubMed:20215400, ECO:0000269|PubMed:8216329, ECO:0000269|PubMed:8838578, ECO:0000269|Ref.2}. |
Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);0.008696(Rabbit) |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 5Y1Z (X-ray 2.68A ) 5ZZ9 (X-ray 2.30A ) |
DBSNP | rs2544809 rs28538572 |
Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:20215400, ECO:0000269|PubMed:28966017, ECO:0000269|PubMed:8838578}. Cell projection, dendrite {ECO:0000269|PubMed:8838578}. Cytoplasm, cell cortex {ECO:0000269|PubMed:20215400}. Cell junction {ECO:0000269|PubMed:20215400}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q9QXS6}. Note=In the absence of antigen, evenly distributed throughout subcortical regions of the T-cell membrane and cytoplasm (PubMed:20215400). In the presence of antigen, distributes to the immunological synapse forming at the T-cell-APC contact area, where it localizes at the peripheral and distal supramolecular activation clusters (SMAC) (PubMed:20215400). Colocalized with RUFY3 and F-actin at the transitional domain of the axonal growth cone (By similarity). {ECO:0000250|UniProtKB:Q9QXS6, ECO:0000269|PubMed:20215400}. |
Mouse PG classification | NA |
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