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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... See more...
Aliases for IL1RAPL1 Gene
Aliases for IL1RAPL1 Gene
- Interleukin 1 Receptor Accessory Protein Like 1 2 3 5
- TIGIRR-2 2 3 4
- OPHN4 2 3 4
- Three Immunoglobulin Domain-Containing IL-1 Receptor-Related 2 3 4
- X-Linked Interleukin-1 Receptor Accessory Protein-Like 1 3 4
- Interleukin-1 Receptor Accessory Protein-Like 1 3 4
- Mental Retardation, X-Linked 10 2 3
- Oligophrenin-4 3 4
- IL-1-RAPL-1 3 4
- IL-1RAPL-1 3 4
External Ids for IL1RAPL1 Gene
- HGNC: 5996
- Entrez Gene: 11141
- Ensembl: ENSG00000169306
- OMIM: 300206
- UniProtKB: Q9NZN1
Previous HGNC Symbols for IL1RAPL1 Gene
- IL1RAPL
- MRX34
- MRX21
- MRX10
Previous GeneCards Identifiers for IL1RAPL1 Gene
- GC0XP028452
- GC0XP028097
- GC0XP027807
- GC0XP027966
- GC0XP028365
- GC0XP026346
Summaries for IL1RAPL1 Gene
-
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]
GeneCards Summary for IL1RAPL1 Gene
IL1RAPL1 (Interleukin 1 Receptor Accessory Protein Like 1) is a Protein Coding gene. Diseases associated with IL1RAPL1 include Mental Retardation, X-Linked 21 and Non-Syndromic X-Linked 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.
UniProtKB/Swiss-Prot Summary for IL1RAPL1 Gene
-
May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).
Additional gene information for IL1RAPL1 Gene
- HGNC(5996)
- Entrez Gene(11141)
- Ensembl(ENSG00000169306)
- OMIM(300206)
- UniProtKB(Q9NZN1)
- Open Targets Platform(ENSG00000169306)
- Monarch Initiative
- Search for IL1RAPL1 at DataMed
- Search for IL1RAPL1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL1RAPL1 Gene
Genomics for IL1RAPL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IL1RAPL1 Gene
| 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 | 600.7 | +1.9 | 1854 | 7 | ZSCAN4 CTCF RAD21 GATA3 ZNF143 JUND | IL1RAPL1 ENSG00000223742 H3P43 | |
| GH0XJ028658 | Promoter | 0.3 | EPDnew | 600.2 | +71.6 | 71570 | 0.1 | H3P43 IL1RAPL1 | ||
| GH0XJ028498 | Enhancer | 0.5 | Ensembl ENCODE | 10.1 | -88.6 | -88573 | 1.7 | EZH2 JUND | IL1RAPL1 lnc-DCAF8L1-5 piR-38129-116 DCAF8L1 | |
| GH0XJ028506 | Enhancer | 0.2 | ENCODE | 10.6 | -79.8 | -79767 | 1.6 | IL1RAPL1 piR-38129-116 piR-32214-720 DCAF8L1 | ||
| GH0XJ028850 | Enhancer | 0.3 | Ensembl | 4.2 | +263.7 | 263655 | 0.6 | POLR2A | IL1RAPL1 piR-37567-236 piR-35002-175 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around IL1RAPL1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL1RAPL1
- Top Transcription factor binding sites by QIAGEN in the IL1RAPL1 gene promoter:
-
- Chx10
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- IRF-2
- p53
Genomic Locations for IL1RAPL1 Gene
Genomic Locations for IL1RAPL1 Gene
- chrX:28,587,446-29,956,718
- (GRCh38/hg38)
- Size:
- 1,369,273 bases
- Orientation:
- Plus strand
- chrX:28,605,516-29,974,840
- (GRCh37/hg19)
- Size:
- 1,369,325 bases
- Orientation:
- Plus strand
Genomic View for IL1RAPL1 Gene
Genes around IL1RAPL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp21.3-p21.2 by HGNC
- Xp21.3-p21.2 by Entrez Gene
- Xp21.3 by Ensembl
IL1RAPL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for IL1RAPL1 Gene
Proteins for IL1RAPL1 Gene
-
Protein details for IL1RAPL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NZN1-IRPL1_HUMAN
- Recommended name:
- Interleukin-1 receptor accessory protein-like 1
- Protein Accession:
- Q9NZN1
- A0AVG4
- Q9UJ53
Protein attributes for IL1RAPL1 Gene
- Size:
- 696 amino acids
- Molecular mass:
- 79969 Da
- Quaternary structure:
-
- Homodimer (PubMed:15123616). Interacts (calcium-independent) with NCS1 (PubMed:12783849). Interacts (via the first immunoglobilin domain) with PTPRD (via the second immunoglobilin domain); this interaction is PTPRD-splicing-dependent and induces pre- and post-synaptic differentiation of neurons and is required for IL1RAPL1-mediated synapse formation (By similarity).
Three dimensional structures from OCA and Proteopedia for IL1RAPL1 Gene
Alternative splice isoforms for IL1RAPL1 Gene
- UniProtKB/Swiss-Prot:
Protein Expression for IL1RAPL1 Gene
Post-translational modifications for IL1RAPL1 Gene
Other Protein References for IL1RAPL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-IL1RAPL1 (aa 151-250) polyclonal antibody
- HUABIO Anti-IL1RAPL1 Antibody
- Creative Biolabs Recombinant Mouse anti-Human IL1RAPL1 Monoclonal antibody (EML1283)
- Novus Biologicals Antibodies for IL1RAPL1
-
Abcam antibodies for IL1RAPL1
- Invitrogen Antibodies for IL1RAPL1 (AFLGC-Il1rapl1)
-
Biorbyt antibodies for IL1RAPL1
-
Boster Bio Antibodies for IL1RAPL1
- Sino Biological Antibodies for IL1RAPL1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IL1RAPL1
- Origene Custom Protein Services for IL1RAPL1
- Novus Biologicals proteins for IL1RAPL1
- Sino Biological Recombinant Proteins for IL1RAPL1
- Sino Biological Cell Lysates for IL1RAPL1
-
Abcam proteins for IL1RAPL1
Assay Products
- antibodies-online: Show 8 available IL1RAPL1 Elisa Kits ranked by validation data
- Compare Top IL1RAPL1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for IL1RAPL1 Gene
Domains & Families for IL1RAPL1 Gene
Gene Families for IL1RAPL1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted membrane proteins
Protein Domains for IL1RAPL1 Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- Interleukin-1 receptor type I family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for IL1RAPL1 Gene
- GenScript: Design optimal peptide antigens:
-
- Interleukin 1 receptor accessory protein-like 1 (A0AVG4_HUMAN)
- X-linked interleukin-1 receptor accessory protein-like 1 (IRPL1_HUMAN)
- Interleukin 1 receptor accessory protein-like 1 (Q7Z2H0_HUMAN)
- Interleukin 1 receptor accessory protein-like 1 (Q7Z2K4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NZN1UniProtKB/Swiss-Prot:
IRPL1_HUMAN :- The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
- Belongs to the interleukin-1 receptor family.
- Domain:
-
- The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
- Family:
-
- Belongs to the interleukin-1 receptor family.
Function for IL1RAPL1 Gene
Molecular function for IL1RAPL1 Gene
- UniProtKB/Swiss-Prot Function:
- May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel (PubMed:12783849). May activate the MAP kinase JNK (PubMed:15123616). Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide; Xref=Rhea:RHEA:16301, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17154, ChEBI:CHEBI:57540, ChEBI:CHEBI:57967; EC=3.2.2.6; Evidence={ECO:0000255|PROSITE-ProRule:PRU00204};.
- GENATLAS Biochemistry:
- interleukin 1,receptor accessory protein-like,expressed in the developing and post natal hippocampus and perception cortices,including the olfactory bulb (in mouse),potentially involved in the release of neurotransmitters that have an effect of synapse structure and plasticity
Enzyme Numbers (IUBMB) for IL1RAPL1 Gene
Phenotypes From GWAS Catalog for IL1RAPL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | ISS | -- |
| GO:0005515 | protein binding | IEA,IPI | 12783849 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0019966 | NOT interleukin-1 binding | IDA | 12783849 |
| GO:0050135 | NAD(P)+ nucleosidase activity | IEA | -- |
Phenotypes for IL1RAPL1 Gene
- MGI mutant phenotypes for IL1RAPL1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for IL1RAPL1:
Animal Models for IL1RAPL1 Gene
- MGI Knock Outs for IL1RAPL1:
-
- Il1rapl1 Il1rapl1<tm1.1Hesk>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IL1RAPL1 - Select products 50% OFF >
- * IL1RAPL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IL1RAPL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IL1RAPL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for IL1RAPL1
miRNA for IL1RAPL1 Gene
- miRTarBase miRNAs that target IL1RAPL1
-
- mmu-miR-425-5p (MIRT008624)
- mmu-miR-340-5p (MIRT010398)
- hsa-miR-151a-5p (MIRT053613)
- hsa-miR-4307 (MIRT523018)
- hsa-miR-6768-5p (MIRT523019)
- hsa-miR-8485 (MIRT523020)
- hsa-miR-4446-5p (MIRT606792)
- hsa-miR-3679-3p (MIRT606793)
- hsa-miR-6840-5p (MIRT606794)
- hsa-miR-3941 (MIRT628090)
- hsa-miR-603 (MIRT628091)
- hsa-miR-362-3p (MIRT628092)
- hsa-miR-329-3p (MIRT628093)
- hsa-miR-574-5p (MIRT628094)
- hsa-miR-147a (MIRT628095)
- hsa-miR-7108-5p (MIRT628096)
- hsa-miR-588 (MIRT628097)
- hsa-miR-4701-5p (MIRT628098)
- hsa-miR-6867-5p (MIRT628099)
- hsa-miR-644a (MIRT628100)
- hsa-miR-3911 (MIRT628101)
- hsa-miR-663b (MIRT628102)
- hsa-miR-5197-5p (MIRT674564)
- hsa-miR-599 (MIRT721945)
- hsa-miR-3161 (MIRT721946)
- hsa-miR-4279 (MIRT721947)
- hsa-miR-100-3p (MIRT721948)
- hsa-miR-539-5p (MIRT787374)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IL1RAPL1
- Browse OriGene Inhibitory RNA Products For IL1RAPL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL1RAPL1
Clone Products
- Applied Biological Materials (abm): Clones for IL1RAPL1 - Select products 50% OFF >
- * IL1RAPL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IL1RAPL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IL1RAPL1
Cell Line Products
-
Horizon Cell Lines for IL1RAPL1
No data available for Transcription Factor Targets and HOMER Transcription for IL1RAPL1 Gene
Localization for IL1RAPL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for IL1RAPL1 Gene
- Cell membrane. Single-pass type I membrane protein. Cytoplasm. Cell projection, axon. Cell projection, dendrite. Note=May localize to the cell body and growth cones of dendrite-like processes. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL1RAPL1 Gene
Pathways & Interactions for IL1RAPL1 Gene
Interacting Proteins for IL1RAPL1 Gene
GPS-Prot Interaction Network for IL1RAPL1
| 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 | IBA,IDA | 12783849 |
No data available for Pathways by source and SIGNOR curated interactions for IL1RAPL1 Gene
Transcripts for IL1RAPL1 Gene
mRNA/cDNA for IL1RAPL1 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302196 1314 nts (view in UCSC)
- ENST00000378993 3615 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IL1RAPL1 - Select products 50% OFF >
- * IL1RAPL1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IL1RAPL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IL1RAPL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for IL1RAPL1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IL1RAPL1
- Browse OriGene Inhibitory RNA Products For IL1RAPL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL1RAPL1
Clone Products
- Applied Biological Materials (abm): Clones for IL1RAPL1 - Select products 50% OFF >
- * IL1RAPL1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IL1RAPL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IL1RAPL1
Relevant External Links for IL1RAPL1 Gene
- GeneLoc Exon Structure for
- IL1RAPL1
Expression for IL1RAPL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for IL1RAPL1 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.4) and Brain - Substantia nigra (x4.4).
This gene is overexpressed in Frontal cortex (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IL1RAPL1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL1RAPL1
SOURCE GeneReport for Unigene cluster for IL1RAPL1 Gene:
Hs.658912mRNA Expression by UniProt/SwissProt for IL1RAPL1 Gene:
Q9NZN1-IRPL1_HUMAN
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.
Evidence on tissue expression from TISSUES for IL1RAPL1 Gene
- Nervous system(4.6)
- Skin(2.3)
- Liver(2.3)
- Intestine(2.3)
- Lymph node(2.2)
- Blood(2.2)
- Adrenal gland(2.2)
- Bone marrow(2.1)
- Lung(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for IL1RAPL1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- salivary gland
- skull
- tooth
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
- testicle
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for IL1RAPL1
Gene Expression Assay Products
Orthologs for IL1RAPL1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IL1RAPL1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IL1RAPL1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IL1RAPL1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IL1RAPL1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Il1rapl1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Il1rapl1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IL1RAPL1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IL1RAPL1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IL1RAPL1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | il1rapl1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | il1rapl1b 30 31 |
|
OneToMany | |
| il1rapl1a 31 |
|
OneToMany | |||
| Dr.29232 30 |
|
- Species where no ortholog for IL1RAPL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for IL1RAPL1 Gene
- ENSEMBL:
- Gene Tree for IL1RAPL1 (if available)
- TreeFam:
- Gene Tree for IL1RAPL1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for IL1RAPL1: view image
Paralogs for IL1RAPL1 Gene
Variants for IL1RAPL1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL1RAPL1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 703453 | Benign: not provided | 29,955,688(+) | T/C | SYNONYMOUS_VARIANT | |
| 705821 | Benign: not provided | 29,955,778(+) | G/A | SYNONYMOUS_VARIANT | |
| 728349 | Likely Benign: not provided | 29,917,564(+) | G/A | SYNONYMOUS_VARIANT | |
| 733581 | Likely Benign: not provided | 29,920,076(+) | G/A | MISSENSE_VARIANT | |
| 737553 | Likely Benign: not provided | 29,955,667(+) | G/A | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
8.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.54;
11.71% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for IL1RAPL1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL1RAPL1 Gene
Disorders for IL1RAPL1 Gene
(12) MalaCards diseases for IL1RAPL1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, x-linked 21 |
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| non-syndromic x-linked intellectual disability |
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| alacrima, achalasia, and mental retardation syndrome |
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| glycerol kinase deficiency |
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| adrenal hypoplasia, congenital |
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Search IL1RAPL1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IRPL1_HUMAN- 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:0000269 PubMed:10757639, ECO:0000269 PubMed:16470793}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for IL1RAPL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
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No data available for Genatlas for IL1RAPL1 Gene
Publications for IL1RAPL1 Gene
- Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. (PMID: 10757639) Jin H … Roberts RG (European journal of human genetics : EJHG 2000) 2 3 4 23
- Mutations in the calcium-related gene IL1RAPL1 are associated with autism. (PMID: 18801879) Piton A … Rouleau GA (Human molecular genetics 2008) 3 4 23
- A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. (PMID: 16470793) Tabolacci E … Neri G (American journal of medical genetics. Part A 2006) 3 4 23
- Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL. (PMID: 15123616) Khan JA … Tong L (The Journal of biological chemistry 2004) 3 4 23
- IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. (PMID: 12783849) Bahi N … Chelly J (Human molecular genetics 2003) 3 4 23
ExternalLinks
Products for IL1RAPL1 Gene
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