Homo sapiens Protein: IL1RAPL1
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.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005102 receptor binding
GO:0005245 voltage-gated calcium channel activity
GO:0005515 protein binding
Biological Process
GO:0007157 heterophilic cell-cell adhesion
GO:0007165 signal transduction
GO:0010975 regulation of neuron projection development
GO:0030182 neuron differentiation
GO:0045087 innate immune response (InnateDB)
GO:0045920 negative regulation of exocytosis
GO:0050775 positive regulation of dendrite morphogenesis
GO:0070588 calcium ion transmembrane transport
GO:0097105 presynaptic membrane assembly
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0045211 postsynaptic membrane
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
PFAM PF01582
PF13676
PF07679
PF00047
PRINTS
PIRSF
SMART SM00255
SM00408
SM00409
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