| Gene Information | |
|---|---|
| Gene Name | F8A3 |
| Organism | Homo sapiens (Human) |
| Gene Length | 371 |
| Protein Names | 40-kDa huntingtin-associated protein (HAP40) (CpG island protein) (Factor VIII intron 22 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000277150 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | P23610 |
| Gene Card | F8A1;F8A2;F8A3 |
| Uniprot ID | P23610 |
| Pfam | NA |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | Mouse_ F8a ( ortholog_one2many ) Rat_ F8a1 ( ortholog_one2many ) |
| Ohnologs | NA |
| Paralogs | F8A1, F8A2 |
| Tissue | NA |
| Tissue Specificity | Produced abundantly in a wide variety of cell types. |
| Pharmacological Animal Models | NULL(Chimpanzee);0.001000(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6EZ8 (EM 4.00A ) 6X9O (EM 2.60A ) 7DXJ (EM 3.60A ) 7DXK (EM 4.10A ) |
| DBSNP | NA |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:16476778}. Nucleus {ECO:0000269|PubMed:16476778}. Early endosome {ECO:0000269|PubMed:16476778}. Nucleus, nuclear body {ECO:0000250|UniProtKB:Q00558}. Note=Diffuse presence in the cytoplasm and accumulation in the nucleus (PubMed:16476778). In absence of HTT, F8A1/F8A2/F8A3 is concentred in cytoplasm (By similarity). Colocalized with HTT in endosomes (PubMed:16476778). In neuron found in intranuclear structures, the intranuclear rodlets (INRs), also known as rodlets of Roncoroni, in association with ubiquitin (By similarity). {ECO:0000250|UniProtKB:Q00558, ECO:0000269|PubMed:16476778}. |
| Mouse PG classification | NA |
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