ID:FRMD7_HUMAN DESCRIPTION: RecName: Full=FERM domain-containing protein 7; FUNCTION: Plays a role in neurite development (By similarity). May play a specific role in the control of eye movement and gaze stability. SUBCELLULAR LOCATION: Cell projection (By similarity). Cell projection, growth cone (By similarity). 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). TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina. DEVELOPMENTAL STAGE: In 37 day post-ovulation (dpo) embryos, expression is found in the mid- and hindbrain, regions known to be involved in motor control of eye movement, and in the ventricular zone of the forebrain. In 56 dpo embryos, expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord and the developing neural retina. In later development, highly expressed in postmitotic cells within the developing subplate and cortical plate. DISEASE: Defects in FRMD7 are the cause of nystagmus congenital X- linked type 1 (NYS1) [MIM:310700]. NYS1 is 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. SIMILARITY: Contains 1 FERM domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF08736 - FERM adjacent (FA) PF09380 - FERM C-terminal PH-like domain PF00373 - FERM central domain PF09379 - FERM N-terminal domain
ModBase Predicted Comparative 3D Structure on Q6ZUT3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007399 nervous system development GO:0010592 positive regulation of lamellipodium assembly GO:0010975 regulation of neuron projection development GO:0032091 negative regulation of protein binding GO:0051057 positive regulation of small GTPase mediated signal transduction GO:0051497 negative regulation of stress fiber assembly
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