Entity Details
| Primary name |
SAM9L_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8IVG5 |
| EntryName | SAM9L_HUMAN |
| FullName | Sterile alpha motif domain-containing protein 9-like |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1584 |
| SequenceStatus | complete |
| DateCreated | 2007-03-06 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Early endosome |
Domains
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| Domain | Name | Category | Type |
| IPR001660 | Sterile alpha motif domain | Domain | Domain |
| IPR013761 | Sterile alpha motif/pointed domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 159550 | OMIM | Ataxia-pancytopenia syndrome (ATXPC) | An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions