TCTN3
entrez
26123
canonical
uniprot
Q6NUS6
canonical
ensembl
ENSG00000119977
resolver
ensp
ENSP00000360261
resolver
ensp
ENSP00000387567
resolver
ensp
ENSP00000483364
resolver
ensp
ENSP00000506398
resolver
ensp
ENSP00000568925
resolver
ensp
ENSP00000568928
resolver
ensp
ENSP00000626616
resolver
enst
ENST00000614499
resolver
enst
ENST00000680144
resolver
genesymbol
TCTN3
resolver
genesymbol_syn
C10orf61
resolver
genesymbol_syn
TECT3
resolver
hgnc
HGNC:24519
resolver
uniprot
A0A7P0TB57
resolver
uniprot
A0A804G9W2
resolver
uniprot
A6NIC8
resolver
uniprot
B0QZ90
resolver
uniprot
B4DR81
resolver
uniprot
Q6P7P3
resolver
uniprot
Q6UW27
resolver
uniprot
Q6ZQQ0
resolver
uniprot
Q8N7K1
resolver
uniprot
Q8NBQ0
resolver
uniprot
Q96GF7
resolver
uniprot
Q9Y3U1
resolver
uniprot_entry
A0A7P0TB57_HUMAN
resolver
uniprot_entry
A0A804G9W2_HUMAN
resolver
uniprot_entry
TECT3_HUMAN
resolver
uniprot_sec
A6NIC8
resolver
uniprot_sec
B0QZ90
resolver
uniprot_sec
B4DR81
resolver
uniprot_sec
Q6P7P3
resolver
uniprot_sec
Q6UW27
resolver
uniprot_sec
Q6ZQQ0
resolver
uniprot_sec
Q8N7K1
resolver
uniprot_sec
Q8NBQ0
resolver
uniprot_sec
Q96GF7
resolver
uniprot_sec
Q9Y3U1
resolver
amino_acid_sequence
MRTPQLALLQVFFLVFPDGVRPQPSSSPSGAVPTSLELQRGTDGGTLQSPSEATATRPAVPGLPTVVPTLVTPSAPGNRTVDLFPVLPICVCDLTPGACDINCCCDRDCYLLHPRTVFSFCLPGSVRSSSWVCVDNSVIFRSNSPFPSRVFMDSNGIRQFCVHVNNSNLNYFQKLQKVNATNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYFPKWSVISLLRQPAGVGAGGLCAESNPAGFLESKSTTCTRFFKNLASSCTLDSALNAASYYNFTVLKVPRSMTDPQNMEFQVPVILTSQANAPLLAGNTCQNVVSQVTYEIETNGTFGIQKVSVSLGQTNLTVEPGASLQQHFILRFRAFQQSTAASLTSPRSGNPGYIVGKPLLALTDDISYSMTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQQEIYQTLHGRPRPEYVAIFGNADPAQKGGWTRILNRHCSISAINCTSCCLIPVSLEIQVLWAYVGLLSNPQAHVSGVRFLYQCQSIQDSQQVTEVSLTTLVNFVDITQKPQPPRGQPKMDWKWPFDFFPFKVAFSRGVFSQKCSVSPILILCLLLLGVLNLETM
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:22883145}. Note=The disease is caused by variants 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:0000269|PubMed:22883145}.
uniprot
proteins
function
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:0000269|PubMed:17464193, ECO:0000269|PubMed:22883145}.
uniprot
proteins
mass_dalton
66157
uniprot
proteins
protein_family
Tectonic family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16357211
uniprot
proteins
pubmed
17464193
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22883145
uniprot
proteins
pubmed
27377014
uniprot
proteins
sequence_length
607
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 582..602; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins