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IL1RAPL1  -  interleukin 1 receptor accessory protein...

Homo sapiens

 
 
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Disease relevance of IL1RAPL1

 

Psychiatry related information on IL1RAPL1

  • The literature contains multiple reports of patients with non-syndromic mental retardation in association with an Xp22.1-Xp21.3 microdeletion of a marker which lies within the IL1RAPL1 gene [2].
 

High impact information on IL1RAPL1

  • 3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint [3].
  • Previously, human genetics-based approaches allowed us to show that mutations in the IL-1 receptor accessory protein-like gene (IL1RAPL) are responsible for a non-specific form of X-linked mental retardation [4].
  • Taken together, our data suggest that IL1RAPL may regulate calcium-dependent exocytosis and provide insight into the understanding of physiopathological mechanisms underlying cognitive impairment resulting from IL1RAPL dysfunction [4].
  • Remarkably, although NCS-1 and its non-mammalian homologue, frequenin, are members of a highly conserved EF-hand Ca(2+) binding protein family, our data show that IL1RAPL interacts only with NCS-1 through its specific C-terminal domain [4].
  • The functional relevance of IL1RAPL activity was further supported by the inhibitory effect on exocytosis in PC12 cells overexpressing IL1RAPL [4].
 

Biological context of IL1RAPL1

  • Our data are consistent with the association of IL1RAPL1 gene deletion and MR in the majority of patients with cGKD and deletions extending telomeric from DAX1 [5].
  • Further investigations by FISH showed that the IL1RAPL1 gene at Xp21.3 was disrupted by the X chromosome inversion and therefore its inactivation may be related to the mental retardation observed in our patients [6].
  • MRX21 is the first extended MRX family with a point mutation in IL1RAPL1 and the second with a stop mutation, which had been previously found only in a small family [7].
 

Other interactions of IL1RAPL1

  • Both IL1RAPL1 and IL1RAPL2 have novel C-terminal sequences not present in other related proteins, and are encoded by very large genes [2].
  • Our results showed that nearly all patients with deletions involving DAX1, but not DMD, had MR if IL1RAPL1 was deleted [5].
  • The genes have been named according to their structural features: TIGIRR-1 (three immunoglobulin domain-containing IL-1 receptor-related) and TIGIRR-2 [8].
  • No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1 [9].

References

  1. IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Ferrante, M.I., Ghiani, M., Bulfone, A., Franco, B. Gene (2001) [Pubmed]
  2. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Jin, H., Gardner, R.J., Viswesvaraiah, R., Muntoni, F., Roberts, R.G. Eur. J. Hum. Genet. (2000) [Pubmed]
  3. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Laumonnier, F., Ronce, N., Hamel, B.C., Thomas, P., Lespinasse, J., Raynaud, M., Paringaux, C., Van Bokhoven, H., Kalscheuer, V., Fryns, J.P., Chelly, J., Moraine, C., Briault, S. Am. J. Hum. Genet. (2002) [Pubmed]
  4. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Bahi, N., Friocourt, G., Carrié, A., Graham, M.E., Weiss, J.L., Chafey, P., Fauchereau, F., Burgoyne, R.D., Chelly, J. Hum. Mol. Genet. (2003) [Pubmed]
  5. IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. Zhang, Y.H., Huang, B.L., Niakan, K.K., McCabe, L.L., McCabe, E.R., Dipple, K.M. Hum. Mutat. (2004) [Pubmed]
  6. Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation. Leprêtre, F., Delannoy, V., Froguel, P., Vasseur, F., Montpellier, C. Cytogenet. Genome Res. (2003) [Pubmed]
  7. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Tabolacci, E., Pomponi, M.G., Pietrobono, R., Terracciano, A., Chiurazzi, P., Neri, G. Am. J. Med. Genet. A (2006) [Pubmed]
  8. Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling. Born, T.L., Smith, D.E., Garka, K.E., Renshaw, B.R., Bertles, J.S., Sims, J.E. J. Biol. Chem. (2000) [Pubmed]
  9. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. Van Esch, H., Zanni, G., Holvoet, M., Borghgraef, M., Chelly, J., Fryns, J.P., Devriendt, K. European journal of medical genetics. (2005) [Pubmed]
 
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