Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. 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, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]
IL1RAPL1 (Interleukin 1 Receptor Accessory Protein Like 1) is a Protein Coding gene. Diseases associated with IL1RAPL1 include Mental Retardation, X-Linked 21 and X-Linked Non-Specific Intellectual Disability. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and interleukin-1 binding. An important paralog of this gene is IL1RAPL2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ028585 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 750.6 | +1.9 | 1901 | 7 | CTCF RAD21 ZSCAN4 GATA3 ZNF143 JUND | IL1RAPL1 ENSG00000223742 H3P43 | |
GH0XJ028658 | Promoter | 0.3 | EPDnew | 750.2 | +71.6 | 71617 | 0.1 | H3P43 IL1RAPL1 | ||
GH0XJ028498 | Enhancer | 0.5 | Ensembl ENCODE | 10.1 | -88.5 | -88526 | 1.7 | EZH2 JUND | IL1RAPL1 lnc-DCAF8L1-5 piR-38129-116 | |
GH0XJ028506 | Enhancer | 0.2 | ENCODE | 10.6 | -79.7 | -79720 | 1.6 | IL1RAPL1 piR-38129-116 piR-32214-720 | ||
GH0XJ028850 | Enhancer | 0.3 | Ensembl | 4.2 | +263.7 | 263702 | 0.6 | POLR2A | IL1RAPL1 piR-37567-236 piR-35002-175 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | ISS | -- |
GO:0005245 | voltage-gated calcium channel activity | ISS | -- |
GO:0005515 | protein binding | IPI,IEA | 12783849 |
GO:0019966 | NOT interleukin-1 binding | IDA | 12783849 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009986 | cell surface | ISS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007157 | heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules | ISS | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0010975 | regulation of neuron projection development | ISS | -- |
GO:0030182 | neuron differentiation | ISS | -- |
GO:0045920 | negative regulation of exocytosis | IDA,IBA | 12783849 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | IL1RAPL1 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | IL1RAPL1 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | IL1RAPL1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | IL1RAPL1 32 |
|
||
mouse (Mus musculus) |
Mammalia | Il1rapl1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Il1rapl1 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | IL1RAPL1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | IL1RAPL1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | IL1RAPL1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | il1rapl1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | il1rapl1b 33 32 |
|
OneToMany | |
il1rapl1a 33 |
|
OneToMany | |||
Dr.29232 32 |
|
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057515846 | uncertain-significance, Non-syndromic X-linked intellectual disability | 28,587,670(+) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
rs1057515849 | uncertain-significance, Non-syndromic X-linked intellectual disability | 28,587,990(+) | C/A | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
rs1057515851 | uncertain-significance, Non-syndromic X-linked intellectual disability | 29,954,688(+) | T/A | coding_sequence_variant, synonymous_variant | |
rs1057515852 | uncertain-significance, Non-syndromic X-linked intellectual disability | 29,955,419(+) | A/C | coding_sequence_variant, missense_variant | |
rs1064795372 | likely-pathogenic, not-provided, not provided, IL1RAPL1-Related Disorder | 29,399,226(+) | AGAAGA/AGA | coding_sequence_variant, inframe_deletion |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, x-linked 21 |
|
|
x-linked non-specific intellectual disability |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
glycerol kinase deficiency |
|
|
adrenal hypoplasia, congenital |
|