• Gene id: 11141

Gene Summary

• Gene Symbol: IL1RAPL1   Gene   UCSC   Ensembl
• Aliases: IL-1-RAPL-1, IL-1RAPL-1, IL1R8, IL1RAPL, IL1RAPL-1, MRX10, MRX21, MRX34, OPHN4, TIGIRR-2
• Gene name: interleukin 1 receptor accessory protein like 1
• Alternate names: interleukin-1 receptor accessory protein-like 1, X-linked interleukin-1 receptor accessory protein-like 1, interleukin 1 receptor-8, mental retardation, X-linked 10, oligophrenin-4, three immunoglobulin domain-containing IL-1 receptor-related 2,
• Gene location: Xp21.3-p21.2 (28587563: 29956349)     Exons: 13     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300206

Protein Summary

• Protein general information: Q9NZN1  
  • Name: Interleukin 1 receptor accessory protein like 1 (IL 1 RAPL 1) (IL 1RAPL 1) (IL1RAPL 1) (Oligophrenin 4) (Three immunoglobulin domain containing IL 1 receptor related 2) (TIGIRR 2) (X linked interleukin 1 receptor accessory protein like 1)
  • Length: 696  
  • Mass: 79,969
• Sequence:

  MKAPIPHLILLYATFTQSLKVVTKRGSADGCTDWSIDIKKYQVLVGEPVRIKCALFYGYIRTNYSLAQSAGLSLM
  WYKSSGPGDFEEPIAFDGSRMSKEEDSIWFRPTLLQDSGLYACVIRNSTYCMKVSISLTVGENDTGLCYNSKMKY
  FEKAELSKSKEISCRDIEDFLLPTREPEILWYKECRTKTWRPSIVFKRDTLLIREVREDDIGNYTCELKYGGFVV
  RRTTELTVTAPLTDKPPKLLYPMESKLTIQETQLGDSANLTCRAFFGYSGDVSPLIYWMKGEKFIEDLDENRVWE
  SDIRILKEHLGEQEVSISLIVDSVEEGDLGNYSCYVENGNGRRHASVLLHKRELMYTVELAGGLGAILLLLVCLV
  TIYKCYKIEIMLFYRNHFGAEELDGDNKDYDAYLSYTKVDPDQWNQETGEEERFALEILPDMLEKHYGYKLFIPD
  RDLIPTGTYIEDVARCVDQSKRLIIVMTPNYVVRRGWSIFELETRLRNMLVTGEIKVILIECSELRGIMNYQEVE
  ALKHTIKLLTVIKWHGPKCNKLNSKFWKRLQYEMPFKRIEPITHEQALDVSEQGPFGELQTVSAISMAAATSTAL
  ATAHPDLRSTFHNTYHSQMRQKHYYRSYEYDVPPTGTLPLTSIGNQHTYCNIPMTLINGQRPQTKSSREQNPDEA
  HTNSAILPLLPRETSISSVIW

• Structural information:
  • Protein Domains: Ig-like (19-134)
    Ig-like (143-232)
    Ig-like (242-350)
    TIR. (403-562)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR015621  IPR013151  IPR000157  IPR035897  
  • Prosite: PS50835 PS50104
  • PDB: 1T3G 4M92 5WY8
  • PDBsum: 1T3G 4M92 5WY8
  • STRING: ENSP00000305200
• Other Databases: GeneCards:  IL1RAPL1  Malacards:  IL1RAPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005102	receptor binding	ISS	molecular function
GO:0005245	voltage-gated calcium channel activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030182	neuron differentiation	ISS	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0045211	postsynaptic membrane	NAS	cellular component
GO:0045920	negative regulation of exocytosis	IDA	biological process
GO:0050775	positive regulation of dendrite morphogenesis	ISS	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0019966	interleukin-1 binding	IDA	molecular function
GO:0005102	receptor binding	ISS	molecular function
GO:0005245	voltage-gated calcium channel activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030182	neuron differentiation	ISS	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045211	postsynaptic membrane	NAS	cellular component
GO:0045920	negative regulation of exocytosis	IDA	biological process
GO:0050775	positive regulation of dendrite morphogenesis	ISS	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0019966	interleukin-1 binding	IDA	molecular function
GO:0005102	receptor binding	ISS	molecular function
GO:0005245	voltage-gated calcium channel activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0045211	postsynaptic membrane	NAS	cellular component
GO:0045920	negative regulation of exocytosis	IDA	biological process
GO:0050775	positive regulation of dendrite morphogenesis	ISS	biological process
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0019966	interleukin-1 binding	IDA	molecular function

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 17903301
Non-syndromic X-linked mental retardation	KEGG: H00480
Cognitive function	GAD: 18467032
Schizophrenia	GAD: 19736351
Autism	GAD: 19736351
Adrenal hypoplasia	MIK: 12940459
Chorioamnionitis	GAD: 20452482
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Adrenal hypoplasia	MIK: 12940459
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
12940459	adrenal hypoplasia		Japanes e		Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881