TCTN1
entrez
79600
canonical
uniprot
Q2MV58
canonical
ensembl
ENSG00000204852
resolver
ensp
ENSP00000380775
resolver
ensp
ENSP00000380779
resolver
ensp
ENSP00000448735
resolver
ensp
ENSP00000473789
resolver
ensp
ENSP00000473903
resolver
ensp
ENSP00000484255
resolver
ensp
ENSP00000559059
resolver
ensp
ENSP00000559063
resolver
ensp
ENSP00000559067
resolver
ensp
ENSP00000559068
resolver
ensp
ENSP00000559070
resolver
ensp
ENSP00000559071
resolver
ensp
ENSP00000559073
resolver
ensp
ENSP00000559074
resolver
ensp
ENSP00000559081
resolver
ensp
ENSP00000619116
resolver
ensp
ENSP00000656818
resolver
ensp
ENSP00000722919
resolver
enst
ENST00000550703
resolver
enst
ENST00000614115
resolver
genesymbol
TCTN1
resolver
genesymbol_syn
TECT1
resolver
hgnc
HGNC:26113
resolver
uniprot
A0A087X1J4
resolver
uniprot
A8MW34
resolver
uniprot
A8MX11
resolver
uniprot
B4DIB9
resolver
uniprot
B7Z7A7
resolver
uniprot
Q05BR9
resolver
uniprot
Q49A60
resolver
uniprot
Q6P5X1
resolver
uniprot
Q6UXW2
resolver
uniprot
Q8NAE9
resolver
uniprot
Q96N72
resolver
uniprot
Q9H798
resolver
uniprot
S4R2Z5
resolver
uniprot_entry
A0A087X1J4_HUMAN
resolver
uniprot_entry
A8MW34_HUMAN
resolver
uniprot_entry
B4DIB9_HUMAN
resolver
uniprot_entry
Q05BR9_HUMAN
resolver
uniprot_entry
S4R2Z5_HUMAN
resolver
uniprot_entry
TECT1_HUMAN
resolver
uniprot_sec
A8MX11
resolver
uniprot_sec
B7Z7A7
resolver
uniprot_sec
Q49A60
resolver
uniprot_sec
Q6P5X1
resolver
uniprot_sec
Q6UXW2
resolver
uniprot_sec
Q8NAE9
resolver
uniprot_sec
Q96N72
resolver
uniprot_sec
Q9H798
resolver
amino_acid_sequence
MRPRGLPPLLVVLLGCWASVSAQTDATPAVTTEGLNSTEAALATFGTFPSTRPPGTPRAPGPSSGPRPTPVTDVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPPQRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTSDSFLRFPSSLTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNKTLTRREDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQKFEIHFLQENTQPVPLSGNPGYVVGLPLAAGFQPHKGSGIIQTTNRYGQLTILHSTTEQDCLALEGVRTPVLFGYTMQSGCKLRLTGALPCQLVAQKVKSLLWGQGFPDYVAPFGNSQAQDMLDWVPIHFITQSFNRKDSCQLPGALVIEVKWTKYGSLLNPQAKIVNVTANLISSSFPEANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFPFV
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21725307}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
63570
uniprot
proteins
protein_family
Tectonic family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16357211
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
21725307
uniprot
proteins
sequence_length
587
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins