• Gene id: 23769

Gene Summary

• Gene Symbol: FLRT1   Gene   UCSC   Ensembl
• Aliases: SPG68
• Gene name: fibronectin leucine rich transmembrane protein 1
• Alternate names: leucine-rich repeat transmembrane protein FLRT1, fibronectin-like domain-containing leucine-rich transmembrane protein 1,
• Gene location: 11q13.1 (64035969: 64127288)     Exons: 5     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 604806

Protein Summary

• Protein general information: Q9NZU1  
  • Name: Leucine rich repeat transmembrane protein FLRT1 (Fibronectin like domain containing leucine rich transmembrane protein 1)
  • Length: 646  
  • Mass: 71358
  • Tissue specificity: Expressed in kidney and brain. {ECO
• Sequence:

  MDLRDWLFLCYGLIAFLTEVIDSTTCPSVCRCDNGFIYCNDRGLTSIPADIPDDATTLYLQNNQINNAGIPQDLK
  TKVNVQVIYLYENDLDEFPINLPRSLRELHLQDNNVRTIARDSLARIPLLEKLHLDDNSVSTVSIEEDAFADSKQ
  LKLLFLSRNHLSSIPSGLPHTLEELRLDDNRISTIPLHAFKGLNSLRRLVLDGNLLANQRIADDTFSRLQNLTEL
  SLVRNSLAAPPLNLPSAHLQKLYLQDNAISHIPYNTLAKMRELERLDLSNNNLTTLPRGLFDDLGNLAQLLLRNN
  PWFCGCNLMWLRDWVKARAAVVNVRGLMCQGPEKVRGMAIKDITSEMDECFETGPQGGVANAAAKTTASNHASAT
  TPQGSLFTLKAKRPGLRLPDSNIDYPMATGDGAKTLAIHVKALTADSIRITWKATLPASSFRLSWLRLGHSPAVG
  SITETLVQGDKTEYLLTALEPKSTYIICMVTMETSNAYVADETPVCAKAETADSYGPTTTLNQEQNAGPMASLPL
  AGIIGGAVALVFLFLVLGAICWYVHQAGELLTRERAYNRGSRKKDDYMESGTKKDNSILEIRGPGLQMLPINPYR
  AKEEYVVHTIFPSNGSSLCKATHTIGYGTTRGYRDGGIPDIDYSYT

• Structural information:
  • Protein Domains: (21..5-)
    (/note="LRRNT-)
    (300..35-)
    (/note="LRRCT-)
    (409..50-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR000483  IPR003961  IPR036116  IPR013783  IPR001611   IPR003591  IPR032675  IPR000372  
  • Prosite: PS50853 PS51450
  • CDD: cd00063
  • STRING: ENSP00000246841
• Other Databases: GeneCards:  FLRT1  Malacards:  FLRT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051965	positive regulation of synapse assembly	IBA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IBA	biological process
GO:0005104	fibroblast growth factor receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0005911	cell-cell junction	ISS	cellular component
GO:0016358	dendrite development	ISS	biological process
GO:0044306	neuron projection terminus	ISS	cellular component
GO:0032809	neuronal cell body membrane	ISS	cellular component
GO:0005925	focal adhesion	ISS	colocalizes with
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:1990138	neuron projection extension	ISS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	ISS	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0030674	protein-macromolecule adaptor activity	NAS	molecular function
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0031012	extracellular matrix	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray