LRRTM1 - leucine rich repeat transmembrane neuronal 1 Gene

Homo sapiens

Gene ID: 347730 | Gene type: protein coding

About LRRTM1

Cytogenetic location: 2p12 Genomic coordinates (GRCh38): 2:80,288,356-80,304,752 (from NCBI)

This gene has 7 transcripts (splice variants), 188 orthologues and 22 paralogues. Biased expression in brain (RPKM 4.5), salivary gland (RPKM 2.3) and 7 other tissues.

Summary

Predicted to be involved in regulation of postsynaptic density assembly and regulation of presynapse assembly. Predicted to act upstream of or within several processes, including long-term synaptic potentiation; negative regulation of receptor internalization; and positive regulation of synapse assembly. Located in endoplasmic reticulum and growth cone. Is active in GABA-ergic synapse. Is integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022]

LRRTM1 Products(1)

mRNA	Protein	Name
NM_178839.5	NP_849161.2	leucine-rich repeat transmembrane neuronal protein 1 precursor

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	Source
is active in GABA-ergic synapse	IDA IDA: Inferred from direct assay	27565350	GOA
is active in GABA-ergic synapse	IMP IMP: Inferred from mutant phenotype	27565350	GOA
located in axon	IDA IDA: Inferred from direct assay	17667961	GOA
NOT located in cell surface	IDA IDA: Inferred from direct assay	17667961	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	17667961	GOA
located in growth cone	IDA IDA: Inferred from direct assay	17667961	GOA
is active in postsynaptic specialization membrane	IDA IDA: Inferred from direct assay	27565350	GOA
is active in postsynaptic specialization membrane	IMP IMP: Inferred from mutant phenotype	27565350	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRRTM1 Protein Structure

LRR_8

0
100
200
300
400
522 a.a.

Protein Preferred Names

Protein Names

leucine-rich repeat transmembrane neuronal protein 1

leucine-rich repeat transmembrane neuronal 1 protein

Related Diseases

Diseases

Alias

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Reading Disorder

Specific Reading Disorder	Reading
Dyslexia	Developmental Reading Disorder

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C	FANCC
Facc	Fac
Fa3	Fanconi Pancytopenia Type 3
Fanconi Pancytopenia, Type 3	Faces Syndrome
Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies	Friedman-Goodman Syndrome
Abnormality Of The Face

Dyslexia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07841	LRRTM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LRRTM1	VGNC	VGNC:74315
Felis catus	LRRTM1	VGNC	VGNC:63314
Mus musculus	LRRTM1	MGD	MGI:2389173
Rattus norvegicus	LRRTM1	RGD	RGD:1585921
Canis familiaris	LRRTM1	VGNC	VGNC:42829
Bos taurus	LRRTM1	VGNC	VGNC:102826

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