Version 5.4
| Homo sapiens Protein: FRMD7 | |||
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| Summary | |||
| InnateDB Protein | IDBP-86488.7 | ||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||
| Gene Symbol | FRMD7 | ||
| Protein Name | FERM domain containing 7 | ||
| Synonyms | |||
| Species | Homo sapiens | ||
| Ensembl Protein | ENSP00000359916 | ||
| InnateDB Gene | IDBG-86486 (FRMD7) | ||
| Protein Structure |
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| UniProt Annotation | |||
| Function | Plays a role in neurite development (By similarity). May play a specific role in the control of eye movement and gaze stability. {ECO:0000250}. | ||
| Subcellular Localization | Cell projection {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones (By similarity). {ECO:0000250}. | ||
| Disease Associations | Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]: 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. {ECO:0000269PubMed:17013395, ECO:0000269PubMed:17397053, ECO:0000269PubMed:17768376, ECO:0000269PubMed:17893669, ECO:0000269PubMed:17962394, ECO:0000269PubMed:18246032, ECO:0000269PubMed:18431453}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||
| Tissue Specificity | Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina. {ECO:0000269PubMed:17013395}. | ||
| Comments | |||
| Interactions | |||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||
| PDB ID | |||
| InterPro |
IPR000299
FERM domain IPR014847 FERM adjacent (FA) IPR018980 FERM, C-terminal PH-like domain IPR019748 FERM central domain |
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| PFAM |
PF08736
PF09380 PF00373 |
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| PRINTS | |||
| PIRSF | |||
| SMART | |||
| TIGRFAMs | |||
| Post-translational Modifications | |||
| Modification | |||
| Cross-References | |||
| SwissProt | |||
| PhosphoSite | PhosphoSite-Q6ZUT3 | ||
| TrEMBL | X6R7S7 | ||
| UniProt Splice Variant | |||
| Entrez Gene | 90167 | ||
| UniGene | Hs.170776 | ||
| RefSeq | |||
| HUGO | HGNC:8079 | ||
| OMIM | 300628 | ||
| CCDS | |||
| HPRD | 06624 | ||
| IMGT | |||
| EMBL | AL049792 AL109749 AL449383 CH471107 | ||
| GenPept | EAX11785 | ||