Description: Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. RefSeq Summary (NM_002941): Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. Transcript (Including UTRs) Position: hg19 chr3:78,646,388-79,817,059 Size: 1,170,672 Total Exon Count: 31 Strand: - Coding Region Position: hg19 chr3:78,648,063-79,639,061 Size: 990,999 Coding Exon Count: 30
ID:ROBO1_HUMAN DESCRIPTION: RecName: Full=Roundabout homolog 1; AltName: Full=Deleted in U twenty twenty; AltName: Full=H-Robo-1; Flags: Precursor; FUNCTION: Receptor for SLIT1 and SLIT2 which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex. May be required for lung development. SUBUNIT: Interacts with SLIT1 and SLIT2. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). TISSUE SPECIFICITY: Widely expressed, with exception of kidney. PTM: Ubiquitinated. May be deubiquitinated by USP33 (By similarity). MISCELLANEOUS: Maps within a region of overlapping homozygous deletions characterized in both small cell lung cancer cell lines (SCLC) and in a breast cancer cell line. The promoter region of ROBO1 shows complete hypermethylation of CpG sites in the BT-20 breast tumor cell lines, some primary invasive breast carcinomasa and some primary clear cell renal cell carcinomas (CC-RCC). SIMILARITY: Belongs to the immunoglobulin superfamily. ROBO family. SIMILARITY: Contains 3 fibronectin type-III domains. SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/ROBO1ID42140ch3p12.html";
Genetic Association Studies of Complex Diseases and Disorders
Brain imaging in schizophrenia (interaction) Potkin ,et al. 2008, A Genome-Wide Association Study of Schizophrenia Using Brain Activation as a Quantitative Phenotype, Schizophrenia bulletin 2009 35- 1 : 96-108.
Combining imaging and genetic data from a GWAS identified genes related to forebrain development and stress response, already implicated in schizophrenic dysfunction, as affecting prefrontal efficiency.
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.
ModBase Predicted Comparative 3D Structure on Q9Y6N7
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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.