FLRT3
entrez
23767
canonical
uniprot
Q9NZU0
canonical
ensembl
ENSG00000125848
resolver
ensp
ENSP00000339912
resolver
ensp
ENSP00000367292
resolver
ensp
ENSP00000544911
resolver
ensp
ENSP00000544912
resolver
ensp
ENSP00000633319
resolver
ensp
ENSP00000633320
resolver
ensp
ENSP00000633321
resolver
enst
ENST00000341420
resolver
enst
ENST00000378053
resolver
enst
ENST00000874852
resolver
enst
ENST00000874853
resolver
enst
ENST00000963260
resolver
enst
ENST00000963261
resolver
enst
ENST00000963262
resolver
genesymbol
FLRT3
resolver
genesymbol_syn
KIAA1469
resolver
hgnc
HGNC:3762
resolver
uniprot
D3DW20
resolver
uniprot
Q542Z9
resolver
uniprot
Q96K39
resolver
uniprot
Q96K42
resolver
uniprot
Q96KB1
resolver
uniprot
Q9P259
resolver
uniprot_entry
FLRT3_HUMAN
resolver
uniprot_sec
D3DW20
resolver
uniprot_sec
Q542Z9
resolver
uniprot_sec
Q96K39
resolver
uniprot_sec
Q96K42
resolver
uniprot_sec
Q96KB1
resolver
uniprot_sec
Q9P259
resolver
amino_acid_sequence
MISAAWSIFLIGTKIGLFLQVAPLSVMAKSCPSVCRCDAGFIYCNDRFLTSIPTGIPEDATTLYLQNNQINNAGIPSDLKNLLKVERIYLYHNSLDEFPTNLPKYVKELHLQENNIRTITYDSLSKIPYLEELHLDDNSVSAVSIEEGAFRDSNYLRLLFLSRNHLSTIPWGLPRTIEELRLDDNRISTISSPSLQGLTSLKRLVLDGNLLNNHGLGDKVFFNLVNLTELSLVRNSLTAAPVNLPGTNLRKLYLQDNHINRVPPNAFSYLRQLYRLDMSNNNLSNLPQGIFDDLDNITQLILRNNPWYCGCKMKWVRDWLQSLPVKVNVRGLMCQAPEKVRGMAIKDLNAELFDCKDSGIVSTIQITTAIPNTVYPAQGQWPAPVTKQPDIKNPKLTKDHQTTGSPSRKTITITVKSVTSDTIHISWKLALPMTALRLSWLKLGHSPAFGSITETIVTGERSEYLVTALEPDSPYKVCMVPMETSNLYLFDETPVCIETETAPLRMYNPTTTLNREQEKEPYKNPNLPLAAIIGGAVALVTIALLALVCWYVHRNGSLFSRNCAYSKGRRRKDDYAEAGTKKDNSILEIRETSFQMLPISNEPISKEEFVIHTIFPPNGMNLYKNNHSESSSNRSYRDSGIPDSDHSHS
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) [MIM:615271]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:23643382}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FLRT3 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FGF17 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
uniprot
proteins
function
FUNCTION: Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells (PubMed:26235030). Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5B, and possibly also other UNC-5 family members (By similarity). Promotes neurite outgrowth (in vitro) (PubMed:14706654). Mediates cell-cell contacts that promote an increase both in neurite number and in neurite length. Plays a role in the regulation of the density of glutamaergic synapses. Plays a role in fibroblast growth factor-mediated signaling cascades. Required for normal morphogenesis during embryonic development, but not for normal embryonic patterning. Required for normal ventral closure, headfold fusion and definitive endoderm migration during embryonic development. Required for the formation of a normal basement membrane and the maintenance of a normal anterior visceral endoderm during embryonic development (By similarity). {ECO:0000250|UniProtKB:B1H234, ECO:0000250|UniProtKB:Q8BGT1, ECO:0000269|PubMed:14706654, ECO:0000269|PubMed:26235030}.
uniprot
proteins
mass_dalton
73004
uniprot
proteins
mutagenesis
MUTAGEN 38; /note="D->A: Abolishes ADGRL3 binding; when associated with A-43; A-45 and A-47."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 43; /note="Y->A: Abolishes ADGRL3 binding; when associated with A-64. Abolishes ADGRL3 binding; when associated with A-38; A-43 and A-47."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 45; /note="N->A: Abolishes ADGRL3 binding; when associated with A-38; A-43 and A-47."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 47; /note="R->A: Abolishes ADGRL3 binding; when associated with A-38; A-43 and A-45."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 64; /note="Y->A: Abolishes ADGRL3 binding; when associated with A-43."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 89; /note="Y->A: Abolishes ADGRL3 binding; when associated with A-91."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 91; /note="Y->A: Abolishes ADGRL3 binding; when associated with A-89."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 181; /note="R->A: No effect on homodimerization; when associated with A-183."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 181; /note="R->N: Adds a glycosylation site that strongly reduces homodimerization; when associated with T-183."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 183; /note="D->A: No effect on homodimerization; when associated with A-181."; /evidence="ECO:0000269|PubMed:26235030"; MUTAGEN 183; /note="D->T: Adds a glycosylation site that strongly reduces homodimerization; when associated with T-183."; /evidence="ECO:0000269|PubMed:26235030
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q8BGT1}.; PTM: Proteolytic cleavage in the juxtamembrane region gives rise to a soluble ectodomain. Cleavage is probably effected by a metalloprotease. {ECO:0000250|UniProtKB:Q8BGT1}.
uniprot
proteins
pubmed
10644439
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14706654
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26235030
uniprot
proteins
sequence_length
649
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8BGT1}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q8BGT1}. Presynaptic cell membrane {ECO:0000250|UniProtKB:Q8BGT1}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q8BGT1}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8BGT1}. Cell junction, focal adhesion {ECO:0000250|UniProtKB:Q8BGT1}. Secreted {ECO:0000250|UniProtKB:Q8BGT1}. Cell projection, axon {ECO:0000250|UniProtKB:Q8BGT1}. Cell projection, growth cone membrane {ECO:0000250|UniProtKB:Q8BGT1}. Note=Detected on dendritic punctae that colocalize in part with glutamaergic synapses, but not with GABAergic synapses. Proteolytic cleavage in the juxtamembrane region gives rise to a shedded ectodomain. {ECO:0000250|UniProtKB:B1H234, ECO:0000250|UniProtKB:Q8BGT1}.
uniprot
proteins
transmembrane_region
TRANSMEM 529..549; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins