Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23769
Gene name	Fibronectin leucine rich transmembrane protein 1
Gene symbol	FLRT1
Synonyms (NCBI Gene)	SPG68
Chromosome	11
Chromosome location	11q13.1
Summary	This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the ex

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments
MIRT1996016	hsa-miR-3677-5p	CLIP-seq
MIRT1996017	hsa-miR-432	CLIP-seq
MIRT1996018	hsa-miR-4435	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005104	Function	Fibroblast growth factor receptor binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	10644439
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	ISS
GO:0016020	Component	Membrane	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016358	Process	Dendrite development	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10644439
GO:0031012	Component	Extracellular matrix	NAS	10644439
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0044306	Component	Neuron projection terminus	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1990138	Process	Neuron projection extension	IEA
GO:1990138	Process	Neuron projection extension	ISS

MIM	HGNC	e!Ensembl
604806	3760	ENSG00000126500

Q9NZU1

Protein name

Leucine-rich repeat transmembrane protein FLRT1 (Fibronectin-like domain-containing leucine-rich transmembrane protein 1)

Protein function

Plays a role in fibroblast growth factor-mediated signaling cascades that lead to the activation of MAP kinases. Promotes neurite outgrowth via FGFR1-mediated activation of downstream MAP kinases. Promotes an increase both in neurite number and

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01462	LRRNT	25 → 52	Leucine rich repeat N-terminal domain	Family
PF13855	LRR_8	99 → 161	Leucine rich repeat	Repeat
PF13855	LRR_8	242 → 301	Leucine rich repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in kidney and brain. {ECO:0000269|PubMed:10644439}.

Sequence

MDLRDWLFLCYGLIAFLTEVIDSTTCPSVCRCDNGFIYCNDRGLTSIPADIPDDATTLYL
QNNQINNAGIPQDLKTKVNVQVIYLYENDLDEFPINLPRSLRELHLQDNNVRTIARDSLA
RIPLLEKLHLDDNSVSTVSIEEDAFADSKQLKLLFLSRNHLSSIPSGLPHTLEELRLDDN
RISTIPLHAFKGLNSLRRLVLDGNLLANQRIADDTFSRLQNLTELSLVRNSLAAPPLNLP
SAHLQKLYLQDNAISHIPYNTLAKMRELERLDLSNNNLTTLPRGLFDDLGNLAQLLLRNN
PWFCGCNLMWLRDWVKARAAVVNVRGLMCQGPEKVRGMAIKDITSEMDECFETGPQGGVA
NAAAKTTASNHASATTPQGSLFTLKAKRPGLRLPDSNIDYPMATGDGAKTLAIHVKALTA
DSIRITWKATLPASSFRLSWLRLGHSPAVGSITETLVQGDKTEYLLTALEPKSTYIICMV
TMETSNAYVADETPVCAKAETADSYGPTTTLNQEQNAGPMASLPLAGIIGGAVALVFLFL
VLGAICWYVHQAGELLTRERAYNRGSRKKDDYMESGTKKDNSILEIRGPGLQMLPINPYR
AKEEYVVHTIFPSNGSSLCKATHTIGYGTTRGYRDGGIPDIDYSYT

Sequence length

646

Interactions

View interactions

	Reactome
			Downstream signaling of activated FGFR1

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
FLRT1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Optic Atrophy, and Neuropathy	Spastic Paraplegia, Optic Atrophy, And Neuropathy	ORPHANET_DG	24482476	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia-optic atrophy-neuropathy syndrome	Spastic Paraplegia, Optic Atrophy, And Neuropathy	Orphanet		★★★★★ ★☆☆☆☆ Found in Text Mining only

FLRT1 (fibronectin leucine rich transmembrane protein 1)