Entity Details
| Primary name |
DJC21_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q5F1R6 |
| EntryName | DJC21_HUMAN |
| FullName | DnaJ homolog subfamily C member 21 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 531 |
| SequenceStatus | complete |
| DateCreated | 2007-03-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR001623 | DnaJ domain | Domain | Domain |
| IPR003604 | Matrin/U1-C-like, C2H2-type zinc finger | Domain | Domain |
| IPR013087 | Zinc finger C2H2-type | Domain | Domain |
| IPR018253 | DnaJ domain, conserved site | Site | Conserved site |
| IPR022755 | Zinc finger, double-stranded RNA binding | Domain | Domain |
| IPR036236 | Zinc finger C2H2 superfamily | Family | Homologous superfamily |
| IPR036869 | Chaperone J-domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 617052 | OMIM | Bone marrow failure syndrome 3 (BMFS3) | A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions