InnateDB Protein
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IDBP-589942.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TCTN1
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Protein Name
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tectonic family member 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000448735
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InnateDB Gene
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IDBG-57253 (TCTN1)
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Protein Structure
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Function |
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Secreted {ECO:0000305}. Note=Despite the presence of a signal sequence, the full length protein might not be secreted. Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
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Disease Associations |
Joubert syndrome 13 (JBTS13) [MIM:614173]: 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. {ECO:0000269PubMed:21725307}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR011677
Domain of unknown function DUF1619
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PFAM |
PF07773
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q2MV58
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PhosphoSite |
PhosphoSite-Q2MV58
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TrEMBL |
A8MW34
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UniProt Splice Variant |
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Entrez Gene |
79600
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UniGene |
Hs.737105
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RefSeq |
NP_001167446
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HUGO |
HGNC:26113
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OMIM |
609863
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CCDS |
CCDS41835
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HPRD |
08636
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IMGT |
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EMBL |
AC002350
AC144522
AK024780
AK055891
AK092775
AK301732
AY358184
BC040113
BC044885
BC062611
DQ278868
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GenPept |
AAH40113
AAH62611
AAQ88551
ABB90560
BAB15000
BAB71036
BAC03973
BAH13543
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