FLRT1 (fibronectin leucine rich transmembrane protein 1)

Gene

• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 604806
• HGNC: 3760
• e!Ensembl: ENSG00000126500

Protein

• UniProt ID: 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

Pathways

Reactome:

Downstream signaling of activated FGFR1

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
FLRT1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs748392464, rs774674765, rs140370010, rs757865702, rs147439962, rs200588570, rs116999073, rs143337663, rs143309484, rs145828331, rs61735088	RCV003946059 RCV003392817 RCV003949398 RCV003978970 RCV004755955 RCV004755954 RCV003935434 RCV003937915 RCV003953127 RCV003908301 RCV003955727
Hereditary spastic paraplegia	Uncertain significance	rs752014510	RCV000516001
Peripheral neuropathy	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1944983108, rs185115330, rs1945022302, rs757351313, rs771760157, rs199858445, rs374535379, rs770341979, rs749956699, rs377020952, rs748392464, rs141342857, rs1042224142, rs200049740, rs563036980, rs754088054, rs928607984, rs151215662, rs1590934167, rs368223580, rs777319814, rs201354922, rs772794847, rs146150625, rs199526588, rs541611835, rs778352526, rs372484626, rs767596236, rs772744996, rs543037879, rs773354612, rs750090644, rs372121350, rs751994874, rs547325012, rs614397, rs614035, rs3751120, rs3751121, rs148382868, rs947939, rs3824854, rs143811913, rs4379854, rs677447, rs143408791, rs771072390, rs757875522, rs1590935087, rs1945005930, rs1392624005, rs779934784, rs2134620058, rs958881632, rs61731568, rs147439962, rs139711112, rs139768227, rs200588570, rs138676741, rs142685980, rs140274429, rs116999073, rs34856996, rs202201413, rs35247680, rs35851449, rs79628679, rs143337663, rs770193280, rs138289564, rs138445479, rs143309484, rs150249733, rs141684580, rs148012979, rs145399902, rs777177875, rs150825004, rs756250929, rs1565240655, rs776773158, rs767022154, rs769032516, rs1395376914, rs1565241569, rs1590932597, rs756527574, rs1590933528, rs1590934834, rs375487485, rs146061545, rs377112197, rs145828331, rs373807742, rs61735088, rs764179577, rs200658385, rs370410537, rs1348763003, rs149882049, rs148484621, rs767315617, rs138860076, rs774763930, rs756090482, rs762387650, rs1266306392, rs566188754, rs747737126, rs80061941, rs201296024, rs770098892, rs914896380, rs550871684	RCV001314364 RCV001325561 RCV001325589 RCV001315634 RCV001347558 RCV001364653 RCV001362866 RCV001370659 RCV001412148 RCV001404128 RCV001403219 RCV001416142 RCV001448794 RCV001432256 RCV001443076 RCV001423850 RCV001435882 RCV001430483 RCV001436788 RCV001438995 RCV001442115 RCV001461677 RCV001459924 RCV001465748 RCV001458620 RCV001473361 RCV001472352 RCV001471037 RCV001492616 RCV001490563 RCV001487025 RCV001487138 RCV001494382 RCV001499221 RCV001495695 RCV001514996 RCV001511972 RCV001515938 RCV001511973 RCV001512197 RCV001521156 RCV001522627 RCV001515939 RCV001523121 RCV001515375 RCV001515940 RCV001938216 RCV001908752 RCV001996643 RCV001877878 RCV002044327 RCV002151821 RCV002209643 RCV002133211 RCV002074839 RCV000545472 RCV000538749 RCV000559859 RCV000552148 RCV000551689 RCV000525444 RCV000540435 RCV000528629 RCV000532095 RCV000530728 RCV000529107 RCV001423309 RCV000534949 RCV000555173 RCV000553797 RCV000541962 RCV001084500 RCV000637026 RCV000637023 RCV000637030 RCV000637025 RCV000637029 RCV000637027 RCV001468791 RCV000637024 RCV000637033 RCV000637022 RCV000637028 RCV000703123 RCV000692484 RCV000686000 RCV000685356 RCV000688979 RCV000686404 RCV000700738 RCV000698126 RCV000797227 RCV000801930 RCV000793871 RCV000814922 RCV000799644 RCV000874858 RCV000873729 RCV001513702 RCV001474583 RCV000877319 RCV000875231 RCV001482776 RCV001501775 RCV001062859 RCV001045084 RCV001065694 RCV001036596 RCV001048984 RCV001042002 RCV001219491 RCV001223953 RCV001211008 RCV001230955 RCV001231750 RCV001227528 RCV001244707 RCV001298853 RCV001305366 RCV001306685 RCV001300604

Associations from Text Mining
Disease Name	Relationship Type	References
Non alcoholic Fatty Liver Disease	Associate	37224770