Gene Gene information from NCBI Gene database.
Entrez ID 286343
Gene name Leucine rich adaptor protein 1 like
Gene symbol LURAP1L
Synonyms (NCBI Gene)
C9orf150HYST0841LRAP35bbA3L8.2
Chromosome 9
Chromosome location 9p23
miRNA miRNA information provided by mirtarbase database.
43
miRTarBase ID miRNA Experiments Reference
MIRT017481 hsa-miR-335-5p Microarray 18185580
MIRT556389 hsa-miR-381-3p PAR-CLIP 21572407
MIRT556388 hsa-miR-300 PAR-CLIP 21572407
MIRT556387 hsa-miR-424-5p PAR-CLIP 21572407
MIRT556386 hsa-miR-15b-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0043123 Process Positive regulation of canonical NF-kappaB signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616130 31452 ENSG00000153714
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IV03
Protein name Leucine rich adaptor protein 1-like
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14854 LURAP 80 196 Leucine rich adaptor protein Family
Sequence
MEDSPLPDLRDIELKLGRKVPESLVRSLRGEEPVPRERDRDPCGGSGGGGGGGGGGGGCS
SSSSYCSFPPSLSSSSSSSPTSGSPRGSHSSALERLETKLHLLRQEMVNLRATDVRLMRQ
LLVINESIESIKWMIEEKATITSRGSSLSGSLCSLLESQSTSLRGSYNSLHDGSDGLDGI
SVGSYLDTLADDVPGH
QTPSDLDQFSDSSLIEDSQALHKRPKLDSEYYCFG
Sequence length 231
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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
Esophageal atresia/tracheoesophageal fistula Likely pathogenic rs754557712 RCV001172296
★★★★☆
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
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CELIAC 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
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26301688
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Autoimmune thyroiditis Autoimmune Thyroiditis GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease GWASCAT_DG 26301688
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency Common Variable Immunodeficiency GWASCAT_DG 26301688
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Crohn Disease Crohn Disease GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 39245941 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus GWASCAT_DG 26301688
★☆☆☆☆
Found in Text Mining only