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interleukin 1 receptor accessory protein like 1
Summary
- Gene Symbol
-
- IL1RAPL1
- Aliases
-
- IL1R8
- OPHN4
- TIGIRR-2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Cell projection
- Cytoplasm
- Disulfide bond
- Glycoprotein
- Hydrolase
- Immunoglobulin domain
- Intellectual disability
- NAD
- Receptor
- Reference proteome
- Repeat
- Signal
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| trans-synaptic signaling by trans-synaptic complex | ||
| neuron differentiation | ||
| presynaptic membrane assembly | ||
| regulation of neuron projection development | ||
| regulation of presynapse assembly |
GO Hierarchy
biological process
biological regulation [inference]
regulation of biological process [inference]
positive regulation of biological process [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| postsynaptic membrane | ||
| plasma membrane | ||
| cell surface | ||
| dendrite | ||
| axon |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| NAD+ nucleosidase activity | ||
| interleukin-1 binding | ||
| signaling receptor binding | ||
| NAD+ nucleotidase, cyclic ADP-ribose generating |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- interleukin-1 receptor accessory protein-like 1-like
- Functional Category
-
- L: Replication, recombination and repair
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hydrolase activity |
| negative regulation of exocytosis |
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0112022 | non-syndromic X-linked intellectual disability 21 | |
| DOID:1059 | intellectual disability |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0001382 | Joint hypermobility |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001611 | Hypernasal speech |
| HP:0002342 | Intellectual disability, moderate |
| HP:0003196 | Short nose |
| HP:0009909 | Uplifted earlobe |
| HP:0010804 | Tented upper lip vermilion |
| HP:0100710 | Impulsivity |
| Disease ID | Disease Name |
|---|---|
| OMIM:300143 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 115604128 | STRHB00351 | |||
| 116440277 | CORMO15119 | |||
| 117030144 | RHIFE17524 | |||
| 118313039 | SCOMX15063 | |||
| 129024668 | 9600_0:005405 |
