Lrit3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrit3provided by MGI
Official Full Name: leucine-rich repeat, immunoglobulin-like and transmembrane domains 3provided by MGI
Primary source: MGI:MGI:2685267
See related: Ensembl:ENSMUSG00000093865 AllianceGenome:MGI:2685267
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm421
Summary: Acts upstream of or within visual perception. Predicted to be located in cell projection; endoplasmic reticulum; and membrane. Predicted to be integral component of membrane. Used to study congenital stationary night blindness 1F. Human ortholog(s) of this gene implicated in congenital stationary night blindness 1F. Orthologous to human LRIT3 (leucine rich repeat, Ig-like and transmembrane domains 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 3 G3; 3 58.99 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (129577590..129597785, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (129783941..129804136, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRIT3 is Required for Nyctalopin Expression and Normal ON and OFF Pathway Signaling in the Retina.
Title: LRIT3 is Required for Nyctalopin Expression and Normal ON and OFF Pathway Signaling in the Retina.
LRIT3 is expressed in rod photoreceptors and acts transsynaptically to localize the TRPM1 channel in the postsynaptic membrane.
Title: Presynaptic Expression of LRIT3 Transsynaptically Organizes the Postsynaptic Glutamate Signaling Complex Containing TRPM1.
This study confirmed the localization of LRIT3 at the dendritic tips of depolarizing bipolar cells in mouse retina and demonstrated the dependence of TRPM1 localization on the presence of LRIT3.
Title: LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.
The stationary no b-wave phenotype of mice lacking Lrit3, which we named nob6, confirms the findings previously reported in patients carrying LRIT3 mutations.
Title: Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

Lrit3 (e-PCR), detects polymorphism
- UniSTS:525555

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of fibroblast growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within synapse assembly involved in innervation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cell tip	IDA Inferred from Direct Assay more info	PubMed
is_active_in cellular_component	ND No biological Data available more info
is_active_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001287224.2 → NP_001274153.1 leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor

See identical proteins and their annotated locations for NP_001274153.1

Status: VALIDATED

Source sequence(s)

AC111097

Consensus CDS

CCDS57256.2

UniProtKB/Swiss-Prot

W8DXL4

UniProtKB/TrEMBL

J3QNQ8

Related

ENSMUSP00000140184.2, ENSMUST00000185462.7

Conserved Domains (6) summary

smart00410
Location:263 → 339

IG_like; Immunoglobulin like

cd00063
Location:489 → 563

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

sd00031
Location:83 → 106

LRR_1; leucine-rich repeat [structural motif]

pfam12799
Location:129 → 170

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:105 → 165

LRR_8; Leucine rich repeat

cl11960
Location:254 → 335

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

129577590..129597785 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001205102.1: Suppressed sequence

Description

NM_001205102.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.