| Gene Information | |
|---|---|
| Gene Name | KIAA1122 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1026 |
| Protein Names | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (EC 3.6.4.12) (ATP-dependent helicase 1) (hHEL1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9H4L7 |
| Gene Card | SMARCAD1 |
| Uniprot ID | Q9H4L7 |
| Pfam | PF00271; PF00176 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin and esophagus. Expressed in fibroblasts and keratinocytes (at protein level) (PubMed:29409814). {ECO:0000269|PubMed:11031099, ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:29409814}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001615(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6H3A (X-ray 5.50A ) 6QU1 (X-ray 3.70A ) |
| DBSNP | rs11723410 rs2664891 rs2632398 rs3103117 rs11722476 rs7439869 rs17854344 rs17857297 |
| Subcellular location [CC] | Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase. Recruited to double-strand breaks (DSBs) sites of DNA damage. |
| Mouse PG classification | NA |
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