| Gene Information | |
|---|---|
| Gene Name | HAP2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 671 |
| Protein Names | Huntingtin-associated protein 1 (HAP-1) (Neuroan 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P54257 |
| Gene Card | HAP1 |
| Uniprot ID | P54257 |
| Pfam | PF04849 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Predominantly expressed in brain. Selectively expressed in neurons. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.003490(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs4796604 rs4796603 rs4796693 rs35612698 rs11867808 rs8075017 rs34853043 rs4523977 rs34853043 rs8075017 rs34044330 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:9742138}. Cell projection, axon {ECO:0000269|PubMed:9742138}. Presynapse {ECO:0000250|UniProtKB:P54256}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P54256}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P54256}. Cell projection, dendrite {ECO:0000250|UniProtKB:P54256}. Lysosome {ECO:0000250|UniProtKB:P54256}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P54256}. Mitochondrion {ECO:0000305|PubMed:9742138}. Nucleus {ECO:0000250|UniProtKB:P54256}. Cytoplasmic vesicle, autophagosome {ECO:0000250|UniProtKB:O35668}. Early endosome {ECO:0000250|UniProtKB:P54256}. Cell projection, growth cone {ECO:0000250|UniProtKB:P54256}. Cell projection, neuron projection {ECO:0000250|UniProtKB:P54256}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250|UniProtKB:P54256}. Note=Localizes to large nonmembrane-bound cytoplasmic bodies found in various types of neurons, called stigmoid bodies (STBs). Localization to neuronal processes and neurite tips is decreased by YWHAZ. In the nucleus localizes to nuclear rods. {ECO:0000250|UniProtKB:P54256}. |
| Mouse PG classification | NA |
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