Entity Details
Primary name |
FRMD7_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q6ZUT3 |
EntryName | FRMD7_HUMAN |
FullName | FERM domain-containing protein 7 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 714 |
SequenceStatus | complete |
DateCreated | 2006-10-31 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Cell projection |
Domains
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Domain | Name | Category | Type |
IPR000299 | FERM domain | Domain | Domain |
IPR011993 | PH-like domain superfamily | Family | Homologous superfamily |
IPR014352 | FERM/acyl-CoA-binding protein superfamily | Family | Homologous superfamily |
IPR014847 | FERM adjacent (FA) | Domain | Domain |
IPR018979 | FERM, N-terminal | Domain | Domain |
IPR018980 | FERM, C-terminal PH-like domain | Domain | Domain |
IPR019747 | FERM conserved site | Site | Conserved site |
IPR019748 | FERM central domain | Domain | Domain |
IPR019749 | Band 4.1 domain | Domain | Domain |
IPR029071 | Ubiquitin-like domain superfamily | Family | Homologous superfamily |
IPR035963 | FERM superfamily, second domain | Family | Homologous superfamily |
IPR041788 | FARP1/FARP2/FRMD7, FERM domain C-lobe | Domain | Domain |
Diseases
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Disease ID | Source | Name | Description |
310700 | OMIM | Nystagmus congenital X-linked 1 (NYS1) | A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions