IL1RAPL1: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''X-linked interleukin-1 receptor accessory protein-like 1''' is a [[protein]] that in humans is encoded by the ''IL1RAPL1'' [[gene]].<ref name="pmid10471494">{{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 }}</ref><ref name="pmid10757639">{{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 }}</ref><ref name="entrez">{{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 = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_IL1RAPL1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1t3g.
| PDB = {{PDB2|1t3g}}
| Name = Interleukin 1 receptor accessory protein-like 1
| HGNCid = 5996
| Symbol = IL1RAPL1
| AltSymbols =; IL1R8; IL1RAPL; MRX21; MRX34; OPHN4; TIGIRR-2
| OMIM = 300206
| ECnumber = 
| Homologene = 8609
| MGIid = 2687319
| Function = {{GNF_GO|id=GO:0004888 |text = transmembrane receptor activity}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007611 |text = learning and/or memory}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 11141
    | Hs_Ensembl = ENSG00000169306
    | Hs_RefseqProtein = NP_055086
    | Hs_RefseqmRNA = NM_014271
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 28515437
    | Hs_GenLoc_end = 29884761
    | Hs_Uniprot = Q9NZN1
    | Mm_EntrezGene = 331461
    | Mm_Ensembl = ENSMUSG00000052372
    | Mm_RefseqmRNA = XM_486726
    | Mm_RefseqProtein = XP_486726
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 82999961
    | Mm_GenLoc_end = 84142954
    | Mm_Uniprot = Q0VDP7
  }}
}}
'''Interleukin 1 receptor accessory protein-like 1''', also known as '''IL1RAPL1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: IL1RAPL1 interleukin 1 receptor accessory protein-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11141| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The protein encoded by this gene is a member of the [[interleukin-1 receptor family]] and is similar to the [[IL1RAP|interleukin 1 accessory proteins]]. It is most closely related to interleukin 1 receptor accessory protein-like 2 ([[IL1RAPL2]]).<ref name="entrez"/>
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| summary_text = 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). 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.<ref name="entrez">{{cite web | title = Entrez Gene: IL1RAPL1 interleukin 1 receptor accessory protein-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11141| accessdate = }}</ref>
 
}}
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.<ref name="entrez"/>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_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 }}
| citations =
*{{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  | author=Kozák L, Chiurazzi P, Genuardi M, ''et al.'' |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=  }}
*{{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=Tranebjaerg L, Lubs HA, Borghgraef M, ''et al.'' |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 }}
*{{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 | author=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=  }}
*{{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=Carrié A, Jun L, Bienvenu T, ''et al.'' |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 |year= 1999 |pmid= 10471494 |doi= 10.1038/12623 }}
*{{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  | author=Jin H, Gardner RJ, Viswesvaraiah R, ''et al.'' |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 |year= 2000 |pmid= 10757639 |doi= 10.1038/sj.ejhg.5200415 }}
*{{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=Born TL, Smith DE, Garka KE, ''et al.'' |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 }}
*{{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  | author=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=  }}
*{{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=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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=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=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 }}
*{{cite journal  | author=Bahi N, Friocourt G, Carrié A, ''et al.'' |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=  }}
*{{cite journal  | author=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, Huang BL, Niakan KK, ''et al.'' |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 }}
*{{cite journal  | author=Tabolacci E, Pomponi MG, Pietrobono R, ''et al.'' |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 }}
}}
{{refend}}
{{refend}}


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{{PDB Gallery|geneid=11141}}
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Latest revision as of 23:49, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

X-linked interleukin-1 receptor accessory protein-like 1 is a protein that in humans is encoded by the IL1RAPL1 gene.[1][2][3]

Function

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. ↑ 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 (Sep 1999). "A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation". Nat Genet. 23 (1): 25–31. doi:10.1038/12623. PMID 10471494.
  2. ↑ Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG (May 2000). "Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation". Eur J Hum Genet. 8 (2): 87–94. doi:10.1038/sj.ejhg.5200415. PMID 10757639.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: IL1RAPL1 interleukin 1 receptor accessory protein-like 1".

Further reading


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