TECT3_HUMAN » Tectonic-3

TECT3_HUMAN » Tectonic-3
Magnify TECT3_HUMAN » Tectonic-3Enlarged view of image
3D view in GLMol or JMol

gray dot

Download Coordinates

gray dot

Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
TECT3_HUMAN » Tectonic-3 »
Hydrophobic Thickness 32.6 ± 3.6 Å
Tilt Angle 6 ± 6°
ΔGtransfer -16.2 kcal/mol
ΔGfold -8.5 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 584-606 (581-606)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 90-390, Protein of unknown function (DUF1619)

UniProt annotation for TECT3_HUMAN » Tectonic-3
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.

SUBUNIT: Part of the tectonic-like complex (also named B9 complex).

DISEASE: Orofaciodigital syndrome 4 (OFD4) OMIM: 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.

DISEASE: Joubert syndrome 18 (JBTS18) OMIM: 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. 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).

UniProt features for TECT3_HUMAN » Tectonic-3
SIGNAL 1 22 Potential.
CHAIN 23 607 Tectonic-3.
Amino Acid Sequence for TECT3_HUMAN » Tectonic-3
MRTPQLALLQ VFFLVFPDGV RPQPSSSPSG AVPTSLELQR GTDGGTLQSP SEATATRPAV PGLPTVVPTL VTPSAPGNRT VDLFPVLPIC VCDLTPGACD INCCCDRDCY LLHPRTVFSF CLPGSVRSSS WVCVDNSVIF RSNSPFPSRV FMDSNGIRQF CVHVNNSNLN YFQKLQKVNA TNFQALAAEF GGESFTSTFQ TQSPPSFYRA GDPILTYFPK WSVISLLRQP AGVGAGGLCA ESNPAGFLES KSTTCTRFFK NLASSCTLDS ALNAASYYNF TVLKVPRSMT DPQNMEFQVP VILTSQANAP LLAGNTCQNV VSQVTYEIET NGTFGIQKVS VSLGQTNLTV EPGASLQQHF ILRFRAFQQS TAASLTSPRS GNPGYIVGKP LLALTDDISY SMTLLQSQGN GSCSVKRHEV QFGVNAISGC KLRLKKADCS HLQQEIYQTL HGRPRPEYVA IFGNADPAQK GGWTRILNRH CSISAINCTS CCLIPVSLEI QVLWAYVGLL SNPQAHVSGV RFLYQCQSIQ DSQQVTEVSL TTLVNFVDIT QKPQPPRGQP KMDWKWPFDF FPFKVAFSRG VFSQKCSVSP ILILCLLLLG VLNLETM