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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
81
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IL1RAPL1-related disorder Likely pathogenic rs1064795372 RCV000509346
Intellectual disability Pathogenic; Likely pathogenic rs878853146, rs1933958646 RCV000224084
RCV001260739
Intellectual disability, X-linked 21 Likely pathogenic; Pathogenic rs2147259265, rs2147251555, rs2147258610, rs781674023, rs122461160, rs122461161, rs2519091663, rs2518875196, rs2518941201, rs1569208908, rs1569203705 RCV001527626
RCV001775394
RCV001779415
RCV001814756
RCV000012235
RCV000012236
RCV003314205
RCV004586383
RCV004593553
RCV000760253
RCV004027174
See cases Likely pathogenic rs2147239911 RCV001420276
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs2147258668 RCV001843727
Familial cancer of breast Benign rs6526806 RCV005895486
Hepatocellular carcinoma Benign; Likely benign rs138267399 RCV005908870
History of neurodevelopmental disorder Benign; Likely benign rs143600441 RCV000720995
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Addison Disease Associate 27087023
Adrenal Hyperplasia Congenital Associate 12940459
Asthma Associate 28120837
Atkin syndrome Inhibit 33774333
Autism Spectrum Disorder Associate 20479760, 25305082
Chromosome Disorders Associate 12940459
Congenital Abnormalities Associate 21933724, 25305082
Depressive Disorder Major Associate 27440233
Developmental Disabilities Associate 27761175
Genetic Diseases Inborn Associate 36318984