LRFN3 leucine rich repeat and fibronectin type III domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRFN3provided by HGNC
Official Full Name: leucine rich repeat and fibronectin type III domain containing 3provided by HGNC
Primary source: HGNC:HGNC:28370
See related: Ensembl:ENSG00000126243 MIM:612809; AllianceGenome:HGNC:28370
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SALM4; FIGLER1
Summary: Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and synaptic membrane adhesion. Predicted to be located in plasma membrane. Predicted to be active in cell surface and glutamatergic synapse. Predicted to be integral component of postsynaptic density membrane and integral component of presynaptic active zone membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 3.2), fat (RPKM 3.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35936374..35946624)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38482159..38492409)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36427276..36437526)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in regulation of presynapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic membrane adhesion	IEA Inferred from Electronic Annotation more info
involved_in synaptic membrane adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic active zone membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: leucine-rich repeat and fibronectin type-III domain-containing protein 3

Names: fibronectin type III, immunoglobulin and leucine rich repeat domains 1; synaptic adhesion-like molecule 4

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_024509.2 → NP_078785.1 leucine-rich repeat and fibronectin type-III domain-containing protein 3 precursor

See identical proteins and their annotated locations for NP_078785.1

Status: VALIDATED

Source sequence(s)

AF038458, BC003578

Consensus CDS

CCDS12483.1

UniProtKB/Swiss-Prot

Q6UY10, Q9BTN0

Related

ENSP00000246529.3, ENST00000246529.4

Conserved Domains (8) summary

smart00410
Location:302 → 383

IG_like; Immunoglobulin like

cd00116
Location:63 → 168

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:242 → 253

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:63 → 84

LRR_RI; leucine-rich repeat [structural motif]

pfam00041
Location:424 → 502

fn3; Fibronectin type III domain

pfam13855
Location:59 → 119

LRR_8; Leucine rich repeat

cl11960
Location:310 → 383

Ig; Immunoglobulin domain

cl15307
Location:249 → 281

TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain