ROBO1
Function
Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its interaction with MYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). May be required for lung development (By similarity).
Involvement in disease
Neurooculorenal syndrome
NORS
An autosomal recessive syndrome characterized by variable clinical features including congenital renal anomalies, neurodevelopmental defects, intellectual impairment, cardiac defects, and ocular anomalies. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life.
None
The disease is caused by variants affecting the gene represented in this entry.
Nystagmus 8, congenital, autosomal recessive
NYS8
A form of nystagmus, 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. NYS8 patients manifest bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal.
None
The disease may be caused by variants affecting the gene represented in this entry.
Pituitary hormone deficiency, combined or isolated, 8
CPHD8
An autosomal dominant disorder characterized by short stature due to growth hormone deficiency, variable deficiencies of other pituitary hormones, and pituitary abnormalities. Many CPHD8 patients present with pituitary stalk interruption syndrome that is characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated. May be deubiquitinated by USP33.
Sequence Similarities
Belongs to the immunoglobulin superfamily. ROBO family.
Tissue Specificity
Widely expressed, with exception of kidney.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell projection
- Axon
- Endoplasmic reticulum-Golgi intermediate compartment membrane
- Single-pass membrane protein
- Detected at growth cones in thalamus neurons. Detected at growth cones in thalamus neurons (By similarity). PRRG4 prevents cell surface location and both colocalize in the Endoplasmic reticulum/Golgi adjacent to the cell nucleus (By similarity).
Alternative names
DUTT1, ROBO1, Roundabout homolog 1, Deleted in U twenty twenty, H-Robo-1