Gene Gene information from NCBI Gene database.
Entrez ID 11141
Gene name Interleukin 1 receptor accessory protein like 1
Gene symbol IL1RAPL1
Synonyms (NCBI Gene)
IL-1-RAPL-1IL-1RAPL-1IL1R8IL1RAPLIL1RAPL-1MRX10MRX21MRX34OPHN4TIGIRR-2
Chromosome X
Chromosome location Xp21.3-p21.2
Summary 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 do
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs122461160 C>A Pathogenic Coding sequence variant, stop gained
rs122461161 G>A Pathogenic Coding sequence variant, stop gained
rs878853146 TTGGGAAAGT>- Pathogenic Frameshift variant, coding sequence variant
rs886041775 G>A Pathogenic Splice donor variant
rs1064795372 AGA>- Likely-pathogenic, not-provided Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
378
miRTarBase ID miRNA Experiments Reference
MIRT053613 hsa-miR-151a-5p Luciferase reporter assayqRT-PCRWestern blot 22928040
MIRT721948 hsa-miR-100-3p HITS-CLIP 19536157
MIRT721947 hsa-miR-4279 HITS-CLIP 19536157
MIRT721946 hsa-miR-3161 HITS-CLIP 19536157
MIRT721945 hsa-miR-599 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding ISS
GO:0005515 Function Protein binding IPI 12783849, 21940441
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 12783849
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300206 5996 ENSG00000169306
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZN1
Protein name Interleukin-1 receptor accessory protein-like 1 (IL-1-RAPL-1) (IL-1RAPL-1) (IL1RAPL-1) (EC 3.2.2.6) (Oligophrenin-4) (Three immunoglobulin domain-containing IL-1 receptor-related 2) (TIGIRR-2) (X-linked interleukin-1 receptor accessory protein-like 1)
Protein 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 similar
PDB 1T3G , 4M92 , 5WY8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18452 Ig_6 92 143 Immunoglobulin domain Domain
PF00047 ig 251 348 Immunoglobulin domain Domain
PF01582 TIR 404 579 TIR domain Family
Tissue specificity 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,
Sequence
MKAPIPHLILLYATFTQSLKVVTKRGSADGCTDWSIDIKKYQVLVGEPVRIKCALFYGYI
RTNYSLAQSAGLSLMWYKSSGPGDFEEPIAFDGSRMSKEEDSIWFRPTLLQDSGLYACVI
RNSTYCMKVSISLTVGENDTGLC
YNSKMKYFEKAELSKSKEISCRDIEDFLLPTREPEIL
WYKECRTKTWRPSIVFKRDTLLIREVREDDIGNYTCELKYGGFVVRRTTELTVTAPLTDK
PPKLLYPMESKLTIQETQLGDSANLTCRAFFGYSGDVSPLIYWMKGEKFIEDLDENRVWE
SDIRILKEHLGEQEVSISLIVDSVEEGDLGNYSCYVENGNGRRHASVL
LHKRELMYTVEL
AGGLGAILLLLVCLVTIYKCYKIEIMLFYRNHFGAEELDGDNKDYDAYLSYTKVDPDQWN
QETGEEERFALEILPDMLEKHYGYKLFIPDRDLIPTGTYIEDVARCVDQSKRLIIVMTPN
YVVRRGWSIFELETRLRNMLVTGEIKVILIECSELRGIMNYQEVEALKHTIKLLTVIKWH
GPKCNKLNSKFWKRLQYEMPFKRIEPITHEQALDVSEQG
PFGELQTVSAISMAAATSTAL
ATAHPDLRSTFHNTYHSQMRQKHYYRSYEYDVPPTGTLPLTSIGNQHTYCNIPMTLINGQ
RPQTKSSREQNPDEAHTNSAILPLLPRETSISSVIW
Sequence length 696
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Receptor-type tyrosine-protein phosphatases
Interleukin-38 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
IL1RAPL1-related disorder Likely pathogenic rs1064795372 RCV000509346
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Pathogenic; Likely pathogenic rs878853146, rs1933958646 RCV000224084
RCV001260739
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 21 Likely pathogenic; Pathogenic rs2147259265, rs2147251555, rs2147258610, rs781674023, rs122461160, rs122461161, rs2519091663, rs2518875196, rs2518941201, rs1569208908, rs1569203705 RCV001527626
RCV001775394
RCV001779415
RCV001814756
RCV000012235
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 12940459 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28120837
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 28120837 Associate
★☆☆☆☆
Found in Text Mining only
Atkin syndrome Atkin-Flaitz syndrome CLINGEN_DG 10471494, 16470793, 18801879, 19012350, 24680889, 28576939
★☆☆☆☆
Found in Text Mining only
Atkin syndrome Atkin-Flaitz syndrome GENOMICS_ENGLAND_DG 19012350
★☆☆☆☆
Found in Text Mining only
Atkin syndrome Atkin-Flaitz syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 20479760, 25305082 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 20479760
★★☆☆☆
Found in Text Mining + Unknown/Other Associations