Homo sapiens Protein: IL1RAPL1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-53482.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | IL1RAPL1 | ||||||||||||||||||
Protein Name | interleukin 1 receptor accessory protein-like 1 | ||||||||||||||||||
Synonyms | IL1R8; IL1RAPL; MRX10; MRX21; MRX34; OPHN4; TIGIRR-2; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000368278 | ||||||||||||||||||
InnateDB Gene | IDBG-53480 (IL1RAPL1) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | 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. {ECO:0000269PubMed:12783849, ECO:0000269PubMed:15123616}. | ||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000269PubMed:12783849}; Single-pass type I membrane protein {ECO:0000269PubMed:12783849}. Cytoplasm {ECO:0000269PubMed:12783849}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=May localize to the cell body and growth cones of dendrite-like processes. {ECO:0000250}. | ||||||||||||||||||
Disease Associations | Mental retardation, X-linked 21 (MRX21) [MIM:300143]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269PubMed:10757639, ECO:0000269PubMed:16470793}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Detected at low levels in heart, skeletal muscle, ovary, skin, amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra and thalamus. Detected at very low levels in tonsil, prostate, testis, small intestine, placenta, colon and fetal liver. {ECO:0000269PubMed:10471494, ECO:0000269PubMed:10882729}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000157
Toll/interleukin-1 receptor homology (TIR) domain IPR003598 Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013151 Immunoglobulin |
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PFAM |
PF01582
PF13676 PF07679 PF00047 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00255
SM00408 SM00409 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9NZN1 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9NZN1 | ||||||||||||||||||
TrEMBL | X5DNQ7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 11141 | ||||||||||||||||||
UniGene | Hs.658912 | ||||||||||||||||||
RefSeq | NP_055086 | ||||||||||||||||||
HUGO | HGNC:5996 | ||||||||||||||||||
OMIM | 300206 | ||||||||||||||||||
CCDS | CCDS14218 | ||||||||||||||||||
HPRD | 02193 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB101891 AB101892 AB101893 AB101894 AB101895 AB101896 AB101897 AB101898 AB101899 AB101901 AB101902 AB101903 AB101904 AB101905 AB101906 AB101907 AB101908 AB101909 AB101910 AB102650 AC005748 AC121343 AC129852 AF181284 AF284435 AJ243874 AL031466 AL031575 BC126345 BC126347 CH471074 KJ534871 | ||||||||||||||||||
GenPept | AAF59411 AAG21369 AAI26346 AAI26348 AHW56511 BAC80450 BAC80451 BAC80452 BAC80453 BAC80454 BAC80455 BAC80456 BAC80457 BAC80458 BAC80460 BAC80461 BAC80462 BAC80463 BAC80464 BAC80465 BAC80466 BAC80467 BAC80468 BAC80469 BAC81119 CAB56046 CAI42035 CAI42992 EAW99046 | ||||||||||||||||||