Homo sapiens Protein: TCTN3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-383357.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | TCTN3 | ||||||||||||||||||||||
Protein Name | tectonic family member 3 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000387567 | ||||||||||||||||||||||
InnateDB Gene | IDBG-83525 (TCTN3) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway. {ECO:0000250, ECO:0000269PubMed:17464193, ECO:0000269PubMed:22883145}. | ||||||||||||||||||||||
Subcellular Localization | Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. | ||||||||||||||||||||||
Disease Associations | Orofaciodigital syndrome 4 (OFD4) [MIM:258860]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients. Note=The disease is caused by mutations affecting the gene represented in this entry.Joubert syndrome 18 (JBTS18) [MIM:614815]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect. {ECO:0000269PubMed:22883145}. Note=The disease is caused by mutations affecting the gene represented in this entry. TCTN3-mutated fibroblasts from JBTS18 patients fail to respond to Shh agonists suggesting that at least some of the defects in affected individuals may be secondary to reduced Shh signaling (PubMed:22883145). {ECO:0000269PubMed:22883145}. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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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 |
IPR011677
Domain of unknown function DUF1619 |
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PFAM |
PF07773
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q6NUS6 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q6NUS6 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 26123 | ||||||||||||||||||||||
UniGene | Hs.596998 | ||||||||||||||||||||||
RefSeq | NP_001137445 | ||||||||||||||||||||||
HUGO | HGNC:24519 | ||||||||||||||||||||||
OMIM | 613847 | ||||||||||||||||||||||
CCDS | CCDS44461 | ||||||||||||||||||||||
HPRD | 12582 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AK075357 AK098295 AK128834 AK299141 AL050022 AL356632 AY359022 BC009494 BC061582 BC068449 DQ278872 | ||||||||||||||||||||||
GenPept | AAH09494 AAH61582 AAH68449 AAQ89381 ABB90564 BAC05278 BAC11567 BAC87634 BAG61193 CAB43242 CAI16768 CAQ07589 | ||||||||||||||||||||||