Entity Details
| Primary name |
MAMD1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q13495 |
| EntryName | MAMD1_HUMAN |
| FullName | Mastermind-like domain-containing protein 1 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 774 |
| SequenceStatus | complete |
| DateCreated | 1997-11-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR026131 | Mastermind-like domain-containing protein 1 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 300758 | OMIM | Hypospadias 2, X-linked (HYSP2) | A common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction