LRRTM1

Last updated
LRRTM1
Identifiers
Aliases LRRTM1 , entrez:347730, leucine rich repeat transmembrane neuronal 1
External IDs OMIM: 610867 MGI: 2389173 HomoloGene: 41763 GeneCards: LRRTM1
Gene location (Human)
Ideogram human chromosome 2.svg
Chr. Chromosome 2 (human) [1]
Human chromosome 2 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 2p12Start80,288,351 bp [1]
End80,304,752 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_178839

NM_028880
NM_001362109

RefSeq (protein)

NP_849161

NP_083156
NP_001349038

Location (UCSC) Chr 2: 80.29 – 80.3 Mb Chr 6: 77.24 – 77.26 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

LRRTM1 is a brain-expressed imprinted gene that encodes a leucine-rich repeat transmembrane protein that interacts with neurexins and neuroligins to modulate synaptic cell adhesion in neurons. [5] [6] As the name implies, its protein product is a transmembrane protein that contains many leucine rich repeats. It is expressed during the development of specific forebrain structures and shows a variable pattern of maternal downregulation (genomic imprinting). [7] [8]

Contents

Clinical significance

LRRTM1 is the first gene linked to increased odds of being left-handed, when inherited from the father's side. [9] Possessing one particular variant of the LRRTM1 gene slightly raises the risk of psychotic mental illnesses such as schizophrenia, again only if inherited from the father's side. [9] As well, LRRTM1 has been associated with measures of schizotypy in non-clinical populations, [10] indicating that the gene may have shared effects on neurodevelopment in both healthy and unhealthy individuals and individuals with schizophrenia.

LRRTM1 is also critically involved in synapse formation within the dorsal Lateral geniculate nucleus (dLGN) of mice. LRRTM1 aids in the assembly of complex retinogenciulate synapses in mice, which are believed to help process complex visual signals. Lack of this gene shows decreased performance in complex visual tasks. [11]

See also

Related Research Articles

Neurexin

Neurexins (NRXN) are a family of presynaptic cell adhesion proteins that have roles in connecting neurons at the synapse. They are located mostly on the presynaptic membrane and contain a single transmembrane domain. The extracellular domain interacts with proteins in the synaptic cleft, most notably neuroligin, while the intracellular cytoplasmic portion interacts with proteins associated with exocytosis. Neurexin and neuroligin "shake hands," resulting in the connection between the two neurons and the production of a synapse. Neurexins mediate signaling across the synapse, and influence the properties of neural networks by synapse specificity. Neurexins were discovered as receptors for α-latrotoxin, a vertebrate-specific toxin in black widow spider venom that binds to presynaptic receptors and induces massive neurotransmitter release. In humans, alterations in genes encoding neurexins are implicated in autism and other cognitive diseases, such as Tourette syndrome and schizophrenia.

LGR4

Leucine-rich repeat-containing G-protein coupled receptor 4 is a protein that in humans is encoded by the LGR4 gene. LGR4 is known to have a role in the development of the male reproductive tract, eyelids, hair and bone.

LGR6

Leucine-rich repeat-containing G-protein coupled receptor 6 is a protein that in humans is encoded by the LGR6 gene. Along with the other G-protein coupled receptors LGR4 and LGR5, LGR6 is a Wnt signaling pathway mediator. LGR6 also acts as an epithelial stem cell marker in squamous cell carcinoma in mice in vivo.

NRXN1

Neurexin-1-alpha is a protein that in humans is encoded by the NRXN1 gene.

LGI1

Leucine-rich, glioma inactivated 1, also known as LGI1, is a protein which in humans is encoded by the LGI1 gene. It may be a metastasis suppressor.

NLGN4X

Neuroligin-4, X-linked is a protein that in humans is encoded by the NLGN4X gene.

LRRC4

Leucine-rich repeat-containing protein 4 is a protein that in humans is encoded by the LRRC4 gene.

NLGN1

Neuroligin-1 is a protein that in humans is encoded by the NLGN1 gene.

LRIG1

Leucine-rich repeats and immunoglobulin-like domains protein 1 is a protein that in humans is encoded by the LRIG1 gene. It encodes a transmembrane protein that has been shown to interact with receptor tyrosine kinases of the EGFR family and with MET and RET.

LRDD

Leucine-rich repeats and death domain containing, also known as LRDD or p53-induced protein with a death domain (PIDD), is a protein which in humans is encoded by the LRDD gene.

PTPRT

Receptor-type tyrosine-protein phosphatase T is an enzyme that in humans is encoded by the PTPRT gene.

NXPH1

Neurexophilin-1 is a protein that in humans is encoded by the NXPH1 gene.

LGI2

Leucine-rich repeat LGI family member 2 is a protein that in humans is encoded by the LGI2 gene.

NLGN2

Neuroligin-2 is a protein that in humans is encoded by the NLGN2 gene.

IPO11

Importin-11 is a protein that in humans is encoded by the IPO11 gene.

Neuroligin

Neuroligin (NLGN), a type I membrane protein, is a cell adhesion protein on the postsynaptic membrane that mediates the formation and maintenance of synapses between neurons. Neuroligins act as ligands for β-Neurexins, which are cell adhesion proteins located presynaptically. Neuroligin and β-neurexin "shake hands", resulting in the connection between two neurons and the production of a synapse. Neuroligins also affect the properties of neural networks by specifying synaptic functions, and they mediate signalling by recruiting and stabilizing key synaptic components. Neuroligins interact with other postsynaptic proteins to localize neurotransmitter receptors and channels in the postsynaptic density as the cell matures. Additionally, neuroligins are expressed in human peripheral tissues and have been found to play a role in angiogenesis. In humans, alterations in genes encoding neuroligins are implicated in autism and other cognitive disorders.

LRRN2

Leucine-rich repeat neuronal protein 2 is a protein that in humans is encoded by the LRRN2 gene.

FLRT3

Leucine-rich repeat transmembrane protein FLRT3 is a protein that in humans is encoded by the FLRT3 gene.

LRRC17

Leucine-rich repeat-containing protein 17 is a protein that in humans is encoded by the LRRC17 gene.

LRRC24

Leucine rich repeat containing 24 is a protein that, in humans, is encoded by the LRRC24 gene. The protein is represented by the official symbol LRRC24, and is alternatively known as LRRC14OS. The function of LRRC24 is currently unknown. It is a member of the leucine-rich repeat (LRR) superfamily of proteins.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000162951 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000060780 - Ensembl, 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. Siddiqui TJ, Pancaroglu R, Kang Y, Rooyakkers A, Craig AM (June 2010). "LRRTMs and neuroligins bind neurexins with a differential code to cooperate in glutamate synapse development". The Journal of Neuroscience. 30 (22): 7495–506. doi:10.1523/JNEUROSCI.0470-10.2010. PMC   2896269 . PMID   20519524.
  6. Soler-Llavina GJ, Fuccillo MV, Ko J, Südhof TC, Malenka RC (October 2011). "The neurexin ligands, neuroligins and leucine-rich repeat transmembrane proteins, perform convergent and divergent synaptic functions in vivo". Proceedings of the National Academy of Sciences of the United States of America. 108 (40): 16502–9. doi:10.1073/pnas.1114028108. PMC   3189075 . PMID   21953696.
  7. "Entrez Gene: leucine rich repeat transmembrane neuronal 1".
  8. Laurén J, Airaksinen MS, Saarma M, Timmusk T (April 2003). "A novel gene family encoding leucine-rich repeat transmembrane proteins differentially expressed in the nervous system". Genomics. 81 (4): 411–21. doi:10.1016/S0888-7543(03)00030-2. PMID   12676565.
  9. 1 2 Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, et al. (December 2007). "LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia". Molecular Psychiatry. 12 (12): 1129–39, 1057. doi:10.1038/sj.mp.4002053. PMC   2990633 . PMID   17667961. Lay summary BBC News.
  10. Leach EL, Prefontaine G, Hurd PL, Crespi BJ (June 2014). "The imprinted gene LRRTM1 mediates schizotypy and handedness in a nonclinical population". Journal of Human Genetics. 59 (6): 332–6. doi:10.1038/jhg.2014.30. PMID   24785688. S2CID   6285226.
  11. Van Name, Jonathan; Monavarfeshani, Aboozar; Fox, Michael (July 2017). "The role of complex retinogeniculate synapses in mouse visual behavior".Cite journal requires |journal= (help)

Further reading