Version 5.4
| Homo sapiens Protein: FLRT3 | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-55232.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | FLRT3 | ||||||||
| Protein Name | fibronectin leucine rich transmembrane protein 3 | ||||||||
| Synonyms | HH21; | ||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000339912 | ||||||||
| InnateDB Gene | IDBG-55228 (FLRT3) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | May have a function in cell adhesion and/or receptor signaling. | ||||||||
| Subcellular Localization | Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. | ||||||||
| Disease Associations | 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:0000269PubMed:23643382}. Note=The disease is caused by 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:23643382). {ECO:0000269PubMed:23643382}. | ||||||||
| Tissue Specificity | Expressed in kidney, brain, pancreas, skeletal muscle, lung, liver, placenta, and heart. {ECO:0000269PubMed:10644439}. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | |||||||||
| InterPro |
IPR000372
Leucine-rich repeat-containing N-terminal IPR000483 Cysteine-rich flanking region, C-terminal IPR001611 Leucine-rich repeat IPR003591 Leucine-rich repeat, typical subtype IPR003961 Fibronectin, type III |
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| PFAM |
PF01462
PF01463 PF00560 PF13504 PF13855 PF00041 PF01108 |
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| PRINTS | |||||||||
| PIRSF | |||||||||
| SMART |
SM00013
SM00082 SM00369 SM00060 |
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| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q9NZU0 | ||||||||
| PhosphoSite | PhosphoSite-Q9NZU0 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 23767 | ||||||||
| UniGene | Hs.686279 | ||||||||
| RefSeq | NP_938205 | ||||||||
| HUGO | HGNC:3762 | ||||||||
| OMIM | 604808 | ||||||||
| CCDS | CCDS13121 | ||||||||
| HPRD | 05313 | ||||||||
| IMGT | |||||||||
| EMBL | AB040902 AF169677 AK027297 AK027670 AK027694 AK074909 AL132826 AY358319 BC020870 CH471133 | ||||||||
| GenPept | AAF28461 AAH20870 AAQ88685 BAA95993 BAB55023 BAB55282 BAB55303 BAC11284 CAB86687 EAX10300 EAX10301 | ||||||||