LRRTM1 (leucine rich repeat transmembrane neuronal 1)

Gene

• Entrez ID: 347730
• Gene name: Leucine rich repeat transmembrane neuronal 1
• Gene symbol: LRRTM1
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2p12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021433	hsa-miR-9-5p	Microarray	17612493
MIRT1121062	hsa-miR-1263	CLIP-seq
MIRT1121063	hsa-miR-3613-3p	CLIP-seq
MIRT1121064	hsa-miR-509-3p	CLIP-seq
MIRT1121065	hsa-miR-520d-5p	CLIP-seq
MIRT1121066	hsa-miR-524-5p	CLIP-seq
MIRT1121067	hsa-miR-548c-3p	CLIP-seq
MIRT2430854	hsa-miR-1247	CLIP-seq
MIRT2430855	hsa-miR-4449	CLIP-seq
MIRT2430856	hsa-miR-4707-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002091	Process	Negative regulation of receptor internalization	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	17667961
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0009986	Component	Cell surface	IDA	17667961
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IDA	17667961
GO:0030426	Component	Growth cone	IDA	17667961
GO:0031623	Process	Receptor internalization	IEA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0038023	Function	Signaling receptor activity	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IBA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0098982	Component	GABA-ergic synapse	IDA	27565350
GO:0098982	Component	GABA-ergic synapse	IMP	27565350
GO:0099634	Component	Postsynaptic specialization membrane	IDA	27565350
GO:0099634	Component	Postsynaptic specialization membrane	IMP	27565350

Other IDs

• MIM: 610867
• HGNC: 19408
• e!Ensembl: ENSG00000162951

Protein

• UniProt ID: Q86UE6
• Protein name: Leucine-rich repeat transmembrane neuronal protein 1
• Protein function: Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	113 → 173	Leucine rich repeat	Repeat
  PF13855	LRR_8	161 → 221	Leucine rich repeat	Repeat
  PF13855	LRR_8	256 → 315	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in forebrain regions including thalamus and cerebral cortex. {ECO:0000269|PubMed:12676565, ECO:0000269|PubMed:17667961}.
• Sequence:

  MDFLLLGLCLYWLLRRPSGVVLCLLGACFQMLPAAPSGCPQLCRCEGRLLYCEALNLTEA
  PHNLSGLLGLSLRYNSLSELRAGQFTGLMQLTWLYLDHNHICSVQGDAFQKLRRVKELTL
  SSNQITQLPNTTFRPMPNLRSVDLSYNKLQALAPDLFHGLRKLTTLHMRANAIQFVPVRI
  FQDCRSLKFLDIGYNQLKSLARNSFAGLFKLTELHLEHNDLVKVNFAHFPRLISLHSLCL
  RRNKVAIVVSSLDWVWNLEKMDLSGNEIEYMEPHVFETVPHLQSLQLDSNRLTYIEPRIL
  NSWKSLTSITLAGNLWDCGRNVCALASWLNNFQGRYDGNLQCASPEYAQGEDVLDAVYAF
  HLCEDGAEPTSGHLLSAVTNRSDLGPPASSATTLADGGEGQHDGTFEPATVALPGGEHAE
  NAVQIHKVVTGTMALIFSFLIVVLVLYVSWKCFPASLRQLRQCFVTQRRKQKQKQTMHQM
  AAMSAQEYYVDYKPNHIEGALVIINEYGSCTCHQQPARECEV

• Sequence length: 522

Pathways

Reactome:

Neurexins and neuroligins

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Graves Ophthalmopathy	Associate	36056316	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	28814981	★☆☆☆☆ Found in Text Mining only