Q2MV58 (TECT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 59.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Tectonic-1 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 587 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| 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. |
| Subunit structure | Part of the tectonic-like complex (also named B9 complex) By similarity. |
| Subcellular location | Cytoplasm › cytoskeleton › cilium basal body By similarity. Secreted Potential. Note: Despite the presence of a signal sequence, the full length protein might not be secreted By similarity. Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Ref.6 |
| Involvement in 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. |
| Sequence similarities | Belongs to the tectonic family. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q2MV58-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q2MV58-2) The sequence of this isoform differs from the canonical sequence as follows: 498-498: K → KHFVLQ | ||||||
| Isoform 3 (identifier: Q2MV58-3) The sequence of this isoform differs from the canonical sequence as follows: 238-274: AFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILR → GQAYWFTPVIPALWEAEARGSLE | ||||||
| Isoform 4 (identifier: Q2MV58-4) The sequence of this isoform differs from the canonical sequence as follows: 1-73: MRPRGLPPLL...SGPRPTPVTD → MCQLLESTVIQPQGDSP | ||||||
| Isoform 5 (identifier: Q2MV58-5) The sequence of this isoform differs from the canonical sequence as follows: 1-73: MRPRGLPPLL...SGPRPTPVTD → MITAHCGLDLLGS 398-446: Missing. 498-498: K → KHFVLQ | ||||||
| Isoform 6 (identifier: Q2MV58-6) The sequence of this isoform differs from the canonical sequence as follows: 1-178: Missing. 369-438: ENTQPVPLSG...TPVLFGYTMQ → TDWSSPVSAR...RGFGYRSEVD 439-587: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 22 | 22 | Potential | ||||||
| Chain | 23 – 587 | 565 | Tectonic-1 | PRO_0000229796 | |||||
Regions | |||||||||
| Compositional bias | 78 – 97 | 20 | Cys-rich | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 36 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 295 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 528 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 178 | 178 | Missing in isoform 6. | VSP_017756 | |||||
| Alternative sequence | 1 – 73 | 73 | MRPRG…TPVTD → MCQLLESTVIQPQGDSP in isoform 4. | VSP_017757 | |||||
| Alternative sequence | 1 – 73 | 73 | MRPRG…TPVTD → MITAHCGLDLLGS in isoform 5. | VSP_017758 | |||||
| Alternative sequence | 238 – 274 | 37 | AFLVN…PEILR → GQAYWFTPVIPALWEAEARG SLE in isoform 3. | VSP_017759 | |||||
| Alternative sequence | 369 – 438 | 70 | ENTQP…GYTMQ → TDWSSPVSARSTEGEEPAVG PGLPRLRGPFWKFPGPGHAG LGAHPLHHPVIQQEGFLPAP RGFGYRSEVD in isoform 6. | VSP_017760 | |||||
| Alternative sequence | 398 – 446 | 49 | Missing in isoform 5. | VSP_017761 | |||||
| Alternative sequence | 439 – 587 | 149 | Missing in isoform 6. | VSP_017762 | |||||
| Alternative sequence | 498 | 1 | K → KHFVLQ in isoform 2 and isoform 5. | VSP_017763 | |||||
Experimental info | |||||||||
| Sequence conflict | 14 | 1 | L → M in AAQ88551. Ref.2 | ||||||
| Sequence conflict | 330 | 1 | S → T in ABB90560. Ref.1 | ||||||
| Sequence conflict | 341 | 1 | K → E in BAB15000. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition." Reiter J.F., Skarnes W.C. Genes Dev. 20:22-27(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5). Tissue: Artery smooth muscle, Mammary gland and Small intestine. |
| [4] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 6). Tissue: Pancreas and Testis. |
| [6] | "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition." Garcia-Gonzalo F.R., Corbit K.C., Sirerol-Piquer M.S., Ramaswami G., Otto E.A., Noriega T.R., Seol A.D., Robinson J.F., Bennett C.L., Josifova D.J., Garcia-Verdugo J.M., Katsanis N., Hildebrandt F., Reiter J.F. Nat. Genet. 43:776-784(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN JBTS13, SUBCELLULAR LOCATION. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | DQ278868 mRNA. Translation: ABB90560.1. AY358184 mRNA. Translation: AAQ88551.1. AK024780 mRNA. Translation: BAB15000.1. AK055891 mRNA. Translation: BAB71036.1. AK092775 mRNA. Translation: BAC03973.1. AC002350 Genomic DNA. No translation available. AC144522 Genomic DNA. No translation available. BC040113 mRNA. Translation: AAH40113.1. BC044885 mRNA. No translation available. BC062611 mRNA. Translation: AAH62611.1. |
| IPI | IPI00383799. IPI00386253. IPI00641857. IPI00654864. IPI00740875. IPI00741187. |
| RefSeq | NP_001076006.1. NM_001082537.2. NP_001076007.1. NM_001082538.2. NP_001167446.1. NM_001173975.1. NP_001167447.1. NM_001173976.1. NP_078825.2. NM_024549.5. |
| UniGene | Hs.211511. |
3D structure databases | |
| ProteinModelPortal | Q2MV58. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000380779. |
Polymorphism databases | |
| DMDM | 91208022. |
Proteomic databases | |
| PaxDb | Q2MV58. |
| PRIDE | Q2MV58. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000377654; ENSP00000366882; ENSG00000204852. ENST00000397655; ENSP00000380775; ENSG00000204852. ENST00000397659; ENSP00000380779; ENSG00000204852. ENST00000551590; ENSP00000448735; ENSG00000204852. |
| GeneID | 79600. |
| KEGG | hsa:79600. |
| UCSC | uc001trj.2. human. uc001trn.4. human. uc001trp.4. human. uc009zvs.3. human. |
Organism-specific databases | |
| CTD | 79600. |
| GeneCards | GC12P111051. |
| HGNC | HGNC:26113. TCTN1. |
| HPA | HPA039687. HPA040036. |
| MIM | 609863. gene. 614173. phenotype. |
| neXtProt | NX_Q2MV58. |
| Orphanet | 475. Joubert syndrome. |
| PharmGKB | PA162405437. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG77647. |
| HOVERGEN | HBG083755. |
| OMA | NFFFPFV. |
| OrthoDB | EOG451DR0. |
Gene expression databases | |
| ArrayExpress | Q2MV58. |
| Bgee | Q2MV58. |
| CleanEx | HS_TCTN1. |
| Genevestigator | Q2MV58. |
Family and domain databases | |
| InterPro | IPR011677. DUF1619. [Graphical view] |
| Pfam | PF07773. DUF1619. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 79600. |
| NextBio | 68626. |
| SOURCE | Search... |
Entry information
| Entry name | TECT1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q2MV58 Secondary accession number(s): A8MX11 Q9H798 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
