1t3g

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
m (Protected "1t3g" [edit=sysop:move=sysop])
Line 1: Line 1:
-
[[Image:1t3g.png|left|200px]]
 
- 
{{STRUCTURE_1t3g| PDB=1t3g | SCENE= }}
{{STRUCTURE_1t3g| PDB=1t3g | SCENE= }}
- 
===Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of human IL-1RAPL===
===Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of human IL-1RAPL===
 +
{{ABSTRACT_PUBMED_15123616}}
-
{{ABSTRACT_PUBMED_15123616}}
+
==Disease==
 +
[[http://www.uniprot.org/uniprot/IRPL1_HUMAN IRPL1_HUMAN]] Defects in IL1RAPL1 are the cause of mental retardation X-linked type 21 (MRX21) [MIM:[http://omim.org/entry/300143 300143]]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.<ref>PMID:10757639</ref><ref>PMID:16470793</ref>
 +
 
 +
==Function==
 +
[[http://www.uniprot.org/uniprot/IRPL1_HUMAN IRPL1_HUMAN]] May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons.<ref>PMID:12783849</ref><ref>PMID:15123616</ref>
==About this Structure==
==About this Structure==
Line 11: Line 13:
==Reference==
==Reference==
-
<ref group="xtra">PMID:015123616</ref><references group="xtra"/>
+
<ref group="xtra">PMID:015123616</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Khan, J A.]]
[[Category: Khan, J A.]]

Revision as of 11:43, 24 March 2013

Template:STRUCTURE 1t3g

Contents

Crystal structure of the Toll/interleukin-1 receptor (TIR) domain of human IL-1RAPL

Template:ABSTRACT PUBMED 15123616

Disease

[IRPL1_HUMAN] Defects in IL1RAPL1 are the cause of mental retardation X-linked type 21 (MRX21) [MIM:300143]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.[1][2]

Function

[IRPL1_HUMAN] May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in presynaptic and postsynaptic differentiation and dendritic spine formation in neurons.[3][4]

About this Structure

1t3g is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Khan JA, Brint EK, O'Neill LA, Tong L. Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL. J Biol Chem. 2004 Jul 23;279(30):31664-70. Epub 2004 Apr 30. PMID:15123616 doi:10.1074/jbc.M403434200
  1. ↑ Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Eur J Hum Genet. 2000 Feb;8(2):87-94. PMID:10757639 doi:10.1038/sj.ejhg.5200415
  2. ↑ Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Am J Med Genet A. 2006 Mar 1;140(5):482-7. PMID:16470793 doi:10.1002/ajmg.a.31107
  3. ↑ Bahi N, Friocourt G, Carrie A, Graham ME, Weiss JL, Chafey P, Fauchereau F, Burgoyne RD, Chelly J. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum Mol Genet. 2003 Jun 15;12(12):1415-25. PMID:12783849
  4. ↑ Khan JA, Brint EK, O'Neill LA, Tong L. Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL. J Biol Chem. 2004 Jul 23;279(30):31664-70. Epub 2004 Apr 30. PMID:15123616 doi:10.1074/jbc.M403434200

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/1t3g"
Personal tools