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LRRTM1 - leucine rich repeat transmembrane neuronal 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 347730

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	Verweise	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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS07841	LRRTM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	LRRTM1	NCBI