AlphaFold predicted structure
ROBO1 · Q9Y6N7
Mean pLDDT
60.0/ 100
Low
1,651 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)17%
- Low(50–70)2%
- Very low(< 50)51%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ROBO1
Chr 3p12.3roundabout guidance receptor 1
- Aliases:
- DUTT1, FLJ21882, SAX3
- MANE:
- ENST00000464233.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
CAKUT
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalPituitary hormone deficiency
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAlbinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurooculorenal syndrome
0.69pituitary hormone deficiency, combined or isolated, 8
0.56pituitary stalk interruption syndrome
0.55congenital anomaly of kidney and urinary tract
0.52nystagmus, congenital, autosomal recessive
0.43Intellectual disability
0.41placenta praevia
0.39Short stature
0.36alcohol drinking
0.35Tetralogy of Fallot
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Roundabout homolog 1
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)
Diseases associated with ROBO1
Curated MONDO disease pages that list ROBO1 among their top associated genes.