| Gene Information | |
|---|---|
| Gene Name | KIAA1596 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2048 |
| Protein Names | Fanconi anemia group M protein (Protein FACM) (EC 3.6.4.13) (ATP-dependent RNA helicase FANCM) (Fanconi anemia-associated polypeptide of 250 kDa) (FAAP250) (Protein Hef ortholog) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8IYD8 |
| Gene Card | FANCM |
| Uniprot ID | Q8IYD8 |
| Pfam | PF02732; PF16783; PF00271; PF04851 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last trimester of pregnancy and in adults (PubMed:29231814). Expressed in the testis (PubMed:30075111). {ECO:0000269|PubMed:29231814, ECO:0000269|PubMed:30075111}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.089829(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 4BXO (X-ray 2.15A ) 4DAY (X-ray 3.30A ) 4DRB (X-ray 2.63A ) 4E45 (X-ray 2.00A ) 4M6W (X-ray 2.90A ) |
| DBSNP | rs10138997 rs45547534 rs1367580 rs3736772 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:16116422, ECO:0000269|PubMed:20347428, ECO:0000269|PubMed:20347429, ECO:0000269|PubMed:29231814}. |
| Mouse PG classification | NA |
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