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ROBO1

From Wikipedia, the free encyclopedia
ROBO1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesROBO1, DUTT1, SAX3, roundabout guidance receptor 1
External IDsOMIM: 602430; MGI: 1274781; HomoloGene: 2206; GeneCards: ROBO1; OMA:ROBO1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145845
NM_002941
NM_133631

NM_019413

RefSeq (protein)

NP_001139317
NP_002932
NP_598334

NP_062286

Location (UCSC)Chr 3: 78.6 – 79.77 MbChr 16: 72.11 – 72.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Roundabout homolog 1 is a protein that in humans is encoded by the ROBO1 gene.[5][6][7]

Function

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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 protein encoded by ROBO1 is structurally similar to a Drosophila integral membrane protein which is encoded by the Drosophila roundabout gene (a member of the immunoglobulin gene superfamily) and is both an axon guidance receptor and a cell adhesion receptor, known to be involved in the decision by axons to cross the central nervous system midline. Two transcript variants encoding different isoforms have been found for ROBO1.[7]

Clinical significance

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ROBO1 was implicated in a communication disorder based on a Finnish pedigree with severe dyslexia. Analyses revealed a translocation had occurred disrupting ROBO1.[8] Study of the phonological memory component of the language acquisition system suggests that ROBO1 polymorphisms are associated with functioning in this system.[9] The gene is thought to be related to the brain's ability to represent quantities, and is correlated with better math scores of young children in one limited study.[10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169855Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022883Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kidd T, Brose K, Mitchell KJ, Fetter RD, Tessier-Lavigne M, Goodman CS, Tear G (Feb 1998). "Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors". Cell. 92 (2): 205–15. doi:10.1016/S0092-8674(00)80915-0. PMID 9458045. S2CID 2036419.
  6. ^ Sundaresan V, Roberts I, Bateman A, Bankier A, Sheppard M, Hobbs C, Xiong J, Minna J, Latif F, Lerman M, Rabbitts P (Aug 1998). "The DUTT1 gene, a novel NCAM family member is expressed in developing murine neural tissues and has an unusually broad pattern of expression". Mol Cell Neurosci. 11 (1–2): 29–35. doi:10.1006/mcne.1998.0672. PMID 9608531. S2CID 7168171.
  7. ^ a b "Entrez Gene: ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)".
  8. ^ Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kääriäinen H, Kere J (October 2005). "The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia". PLOS Genet. 1 (4): e50. doi:10.1371/journal.pgen.0010050. PMC 1270007. PMID 16254601.
  9. ^ Bates TC, Luciano M, Medland SE, Montgomery GW, Wright MJ, Martin NG (January 2011). "Genetic variance in a component of the language acquisition device: ROBO1 polymorphisms associated with phonological buffer deficits". Behav. Genet. 41 (1): 50–7. doi:10.1007/s10519-010-9402-9. PMID 20949370. S2CID 13129473.
  10. ^ "How genetic variation gives rise to differences in mathematical ability".

Further reading

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