|FLRT3_HUMAN » Leucine-rich repeat transmembrane protein FLRT3 » Fibronectin-like domain-containing leucine-rich transmembrane protein 3;|
|Hydrophobic Thickness||31.6 ± 1.4 Å|
|Tilt Angle||0 ± 0°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||527-552 (527-554)|
|UniProt annotation for FLRT3_HUMAN » Leucine-rich repeat transmembrane protein FLRT3|
|FUNCTION: May have a function in cell adhesion and/or receptor signaling. TISSUE SPECIFICITY: Expressed in kidney, brain, pancreas, skeletal muscle, lung, liver, placenta, and heart. DISEASE: Hypogonadotropic hypogonadism 21 with or without anosmia (HH21) OMIM: 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). mutations 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).|
|UniProt features for FLRT3_HUMAN » Leucine-rich repeat transmembrane protein FLRT3|
SIGNAL 1 28 Potential. |
CHAIN 29 649 Leucine-rich repeat transmembrane protein FLRT3.
DOMAIN 29 58 LRRNT.
REPEAT 59 80 LRR 1.
REPEAT 84 104 LRR 2.
REPEAT 105 126 LRR 3.
REPEAT 129 150 LRR 4.
REPEAT 155 175 LRR 5.
REPEAT 176 197 LRR 6.
REPEAT 200 220 LRR 7.
REPEAT 226 247 LRR 8.
REPEAT 248 269 LRR 9.
REPEAT 272 293 LRR 10.
DOMAIN 305 357 LRRCT.
DOMAIN 406 501 Fibronectin type-III.
|Amino Acid Sequence for FLRT3_HUMAN » Leucine-rich repeat transmembrane protein FLRT3|
|MISAAWSIFL IGTKIGLFLQ VAPLSVMAKS CPSVCRCDAG FIYCNDRFLT SIPTGIPEDA TTLYLQNNQI NNAGIPSDLK NLLKVERIYL YHNSLDEFPT NLPKYVKELH LQENNIRTIT YDSLSKIPYL EELHLDDNSV SAVSIEEGAF RDSNYLRLLF LSRNHLSTIP WGLPRTIEEL RLDDNRISTI SSPSLQGLTS LKRLVLDGNL LNNHGLGDKV FFNLVNLTEL SLVRNSLTAA PVNLPGTNLR KLYLQDNHIN RVPPNAFSYL RQLYRLDMSN NNLSNLPQGI FDDLDNITQL ILRNNPWYCG CKMKWVRDWL QSLPVKVNVR GLMCQAPEKV RGMAIKDLNA ELFDCKDSGI VSTIQITTAI PNTVYPAQGQ WPAPVTKQPD IKNPKLTKDH QTTGSPSRKT ITITVKSVTS DTIHISWKLA LPMTALRLSW LKLGHSPAFG SITETIVTGE RSEYLVTALE PDSPYKVCMV PMETSNLYLF DETPVCIETE TAPLRMYNPT TTLNREQEKE PYKNPNLPLA AIIGGAVALV TIALLALVCW YVHRNGSLFS RNCAYSKGRR RKDDYAEAGT KKDNSILEIR ETSFQMLPIS NEPISKEEFV IHTIFPPNGM NLYKNNHSES SSNRSYRDSG IPDSDHSHS|