Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11141
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 1 receptor accessory protein like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL1RAPL1
Synonyms (NCBI Gene) Gene synonyms aliases
IL-1-RAPL-1, IL-1RAPL-1, IL1R8, IL1RAPL, IL1RAPL-1, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp21.3-p21.2
Summary Summary of gene provided in NCBI Entrez 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 do
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT053613 hsa-miR-151a-5p Luciferase reporter assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
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 IDA 12783849
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300206 5996 ENSG00000169306
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
20479760
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
18801879, 20437600
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Vitiligo Vitiligo GWAS
Neuroticism Neuroticism GWAS
Associations from Text Mining
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