|
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 |
| 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 |
|
| Sequence length |
696 |
| Interactions |
View interactions
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Mental retardation |
intellectual disability |
rs878853146 |
N/A |
| Mental Retardation, X-Linked |
Intellectual disability, X-linked 21 |
rs122461160, rs122461161, rs1569203705 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
| Vitiligo |
Vitiligo |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease 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 |
| Glomerulonephritis IGA |
Associate
|
22318827 |
| Hypoadrenocorticism Familial |
Associate
|
12940459, 22456342 |
| Hypoadrenocorticism Familial |
Stimulate
|
27761175 |
| Intellectual Disability |
Associate
|
10882729, 12940459, 21933724, 22456342, 25305082, 30103804, 33774333, 34452636 |
| Mental Disorders |
Associate
|
27440233, 36318984 |
| Mental Retardation X Linked |
Associate
|
33774333 |
| Mental Retardation X Linked Nonsyndromic |
Associate
|
21933724, 36318984 |
| Mood Disorders |
Associate
|
27440233 |
| Neoplasms |
Inhibit
|
22928040 |
| Neoplasms |
Associate
|
35292515 |
| Neurologic Manifestations |
Associate
|
30103804 |
| Schizophrenia |
Associate
|
20479760 |
|