“IL1RAPL1”的意思、由来-开放百科全书

The protein encoded by this gene is a member of the interleukin-1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2).^[3]

Clinical significance

This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities.^[3]

References

1. ^{{cite journal |vauthors=Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J | title = A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation | journal = Nat Genet | volume = 23 | issue = 1 | pages = 25–31 |date=Sep 1999 | pmid = 10471494 | pmc = | doi = 10.1038/12623 }}
2. ^{{cite journal |vauthors=Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG | title = Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation | journal = Eur J Hum Genet | volume = 8 | issue = 2 | pages = 87–94 |date=May 2000 | pmid = 10757639 | pmc = | doi = 10.1038/sj.ejhg.5200415 }}
3. ^¹²{{cite web | title = Entrez Gene: IL1RAPL1 interleukin 1 receptor accessory protein-like 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11141| accessdate = }}

Further reading

{{cite journal | author=Kozák L |title=Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3 |journal=J. Med. Genet. |volume=30 |issue= 10 |pages= 866–9 |year= 1993 |pmid= 8230164 |doi=10.1136/jmg.30.10.866 | pmc=1016571 |name-list-format=vanc| author2=Chiurazzi P | author3=Genuardi M | display-authors=3 | last4=Pomponi | first4=M G | last5=Zollino | first5=M | last6=Neri | first6=G }}

{{cite journal | author=Tranebjaerg L |title=Seventh International Workshop on the Fragile X and X-linked Mental Retardation |journal=Am. J. Med. Genet. |volume=64 |issue= 1 |pages= 1–14 |year= 1996 |pmid= 8826442 |doi= 10.1002/(SICI)1096-8628(19960712)64:1<1::AID-AJMG1>3.0.CO;2-Z |name-list-format=vanc| author2=Lubs HA | author3=Borghgraef M | display-authors=3 | last4=Brown | first4=W. Ted | last5=Fisch | first5=Gene | last6=Fryns | first6=Jean-Pierre | last7=Hagerman | first7=Randi | last8=Jacobs | first8=Patricia A. | last9=Mandel | first9=Jean-Louis }}

{{cite journal |vauthors=Liu C, Chalmers D, Maki R, De Souza EB |title=Rat homolog of mouse interleukin-1 receptor accessory protein: cloning, localization and modulation studies |journal=J. Neuroimmunol. |volume=66 |issue= 1–2 |pages= 41–8 |year= 1996 |pmid= 8964912 |doi=10.1016/0165-5728(96)00016-1 }}

{{cite journal | author=Born TL |title=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 |journal=J. Biol. Chem. |volume=275 |issue= 39 |pages= 29946–54 |year= 2000 |pmid= 10882729 |doi= 10.1074/jbc.M004077200 |name-list-format=vanc| author2=Smith DE | author3=Garka KE | display-authors=3 | last4=Renshaw | first4=BR | last5=Bertles | first5=JS | last6=Sims | first6=JE }}

{{cite journal |vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }}

{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}

{{cite journal |vauthors=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281–9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}

{{cite journal | author=Bahi N |title=IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis |journal=Hum. Mol. Genet. |volume=12 |issue= 12 |pages= 1415–25 |year= 2004 |pmid= 12783849 |doi=10.1093/hmg/ddg147 |name-list-format=vanc| author2=Friocourt G | author3=Carrié A | display-authors=3 | last4=Graham | first4=ME | last5=Weiss | first5=JL | last6=Chafey | first6=P | last7=Fauchereau | first7=F | last8=Burgoyne | first8=RD | last9=Chelly | first9=J }}

{{cite journal |vauthors=Khan JA, Brint EK, O'Neill LA, Tong L |title=Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL |journal=J. Biol. Chem. |volume=279 |issue= 30 |pages= 31664–70 |year= 2004 |pmid= 15123616 |doi= 10.1074/jbc.M403434200 }}

{{cite journal | author=Zhang YH |title=IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1 |journal=Hum. Mutat. |volume=24 |issue= 3 |pages= 273 |year= 2005 |pmid= 15300857 |doi= 10.1002/humu.9269 |name-list-format=vanc| author2=Huang BL | author3=Niakan KK | display-authors=3 | last4=McCabe | first4=Linda L. | last5=McCabe | first5=Edward R.B. | last6=Dipple | first6=Katrina M. }}

{{cite journal | author=Tabolacci E |title=A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family |journal=Am. J. Med. Genet. A |volume=140 |issue= 5 |pages= 482–7 |year= 2006 |pmid= 16470793 |doi= 10.1002/ajmg.a.31107 |name-list-format=vanc| author2=Pomponi MG | author3=Pietrobono R | display-authors=3 | last4=Terracciano | first4=Alessandra | last5=Chiurazzi | first5=Pietro | last6=Neri | first6=Giovanni }}

Function

Clinical significance

References

Further reading