| Gene Information | |
|---|---|
| Gene Name | KIAA0730 |
| Organism | Homo sapiens (Human) |
| Gene Length | 4579 |
| Protein Names | Sacsin (DnaJ homolog subfamily C member 29) (DNAJC29) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | NA |
| Gene Card | SACS |
| Uniprot ID | Q9NZJ4 |
| Pfam | PF05168; PF00240 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1IUR (NMR - ) 3O10 (X-ray 1.90A ) 5V44 (X-ray 1.56A ) 5V45 (X-ray 1.91A ) 5V46 (X-ray 1.80A ) 5VSX (X-ray 2.10A ) 5VSZ (X-ray 2.40A ) |
| DBSNP | rs2031640 rs17325713 rs137853019 rs137853017 rs35865691 rs780332615 rs140551762 rs11839380 rs137853018 rs17078605 rs281865119 rs201505036 rs17078601 rs376188585 rs137853016 rs35799469 rs773009784 rs749383532 rs1178912631 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:19208651}. Note=Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60. |
| Mouse PG classification | NA |
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