Gene Gene information from NCBI Gene database.
Entrez ID 84894
Gene name Leucine rich repeat and Ig domain containing 1
Gene symbol LINGO1
Synonyms (NCBI Gene)
LERN1LRRN6AMRT64UNQ201
Chromosome 15
Chromosome location 15q24.3
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT573965 hsa-miR-6077 PAR-CLIP 20371350
MIRT573964 hsa-miR-766-5p PAR-CLIP 20371350
MIRT573963 hsa-miR-765 PAR-CLIP 20371350
MIRT573962 hsa-miR-196a-3p PAR-CLIP 20371350
MIRT736920 hsa-miR-15b-3p Luciferase reporter assayWestern blottingRNA-seqImmunofluorescenceqRT-PCR 34187584
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005154 Function Epidermal growth factor receptor binding IBA
GO:0005515 Function Protein binding IPI 14966521, 17726113, 20659559, 22133804, 25416956, 32296183, 32814053, 33961781
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609791 21205 ENSG00000169783
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FE5
Protein name Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 (Leucine-rich repeat and immunoglobulin domain-containing protein 1) (Leucine-rich repeat neuronal protein 1) (Leucine-rich repeat neuronal protein 6A)
Protein function Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors (PubMed:14966521, PubMed:15694321). Is also an important negative reg
PDB 2ID5 , 4OQT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 71 131 Leucine rich repeat Repeat
PF13855 LRR_8 95 155 Leucine rich repeat Repeat
PF13855 LRR_8 119 179 Leucine rich repeat Repeat
PF13855 LRR_8 143 203 Leucine rich repeat Repeat
PF13855 LRR_8 311 371 Leucine rich repeat Repeat
PF07679 I-set 426 514 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed exclusively in the central nervous system. Highest level in the in amygdala, hippocampus, thalamus and cerebral cortex. In the rest of the brain a basal expression seems to be always present. Up-regulated in substantia nigra
Sequence
MQVSKRMLAGGVRSMPSPLLACWQPILLLVLGSVLSGSATGCPPRCECSAQDRAVLCHRK
RFVAVPEGIPTETRLLDLGKNRIKTLNQDEFASFPHLEELELNENIVSAVEPGAFNNLFN
LRTLGLRSNRL
KLIPLGVFTGLSNLTKLDISENKIVILLDYMFQDLYNLKSLEVGDNDL
V
YISHRAFSGLNSLEQLTLEKCNL
TSIPTEALSHLHGLIVLRLRHLNINAIRDYSFKRLYR
LKVLEISHWPYLDTMTPNCLYGLNLTSLSITHCNLTAVPYLAVRHLVYLRFLNLSYNPIS
TIEGSMLHELLRLQEIQLVGGQLAVVEPYAFRGLNYLRVLNVSGNQLTTLEESVFHSVGN
LETLILDSNPL
ACDCRLLWVFRRRWRLNFNRQQPTCATPEFVQGKEFKDFPDVLLPNYFT
CRRARIRDRKAQQVFVDEGHTVQFVCRADGDPPPAILWLSPRKHLVSAKSNGRLTVFPDG
TLEVRYAQVQDNGTYLCIAANAGGNDSMPAHLHV
RSYSPDWPHQPNKTFAFISNQPGEGE
ANSTRATVPFPFDIKTLIIATTMGFISFLGVVLFCLVLLFLWSRGKGNTKHNIEIEYVPR
KSDAGISSADAPRKFNMKMI
Sequence length 620
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Axonal growth inhibition (RHOA activation)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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
Intellectual disability, autosomal recessive 64 Pathogenic rs757077698, rs750612085 RCV000678221
RCV000678222
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR CTD, GWAS catalog
CTD, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA Disgenet
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 34600516 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases Cardiovascular disease Pubtator 22503546 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar diseases Pubtator 23543187 Associate
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay BEFREE 28837161
★☆☆☆☆
Found in Text Mining only
Cone-Rod Dystrophy 2 Cone-rod dystrophy BEFREE 28966634
★☆☆☆☆
Found in Text Mining only
Deglutition Disorders Dysphagia HPO_DG
★☆☆☆☆
Found in Text Mining only
Demyelinating Diseases Demyelinating Diseases BEFREE 28966634
★☆☆☆☆
Found in Text Mining only
Demyelinating Diseases Demyelinating diseases Pubtator 31928294 Associate
★☆☆☆☆
Found in Text Mining only
Essential Tremor Tremor BEFREE 19182806, 19553813, 19720553, 19908305, 20117178, 20310002, 20369371, 20372186, 20468067, 20489616, 20600614, 20951767, 20957646, 21158743, 21219542
View all (17 more)
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Essential Tremor Tremor GWASCAT_DG 19182806
★★☆☆☆
Found in Text Mining + Unknown/Other Associations