Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q2MV58 (TECT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tectonic-1
Gene names
Name:TCTN1
Synonyms:TECT1
ORF Names:UNQ9369/PRO34160
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length587 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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

Cytoplasmcytoskeletoncilium 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the tectonic family.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 587565Tectonic-1
PRO_0000229796

Regions

Compositional bias78 – 9720Cys-rich

Amino acid modifications

Glycosylation361N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Potential
Glycosylation5281N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 178178Missing in isoform 6.
VSP_017756
Alternative sequence1 – 7373MRPRG…TPVTD → MCQLLESTVIQPQGDSP in isoform 4.
VSP_017757
Alternative sequence1 – 7373MRPRG…TPVTD → MITAHCGLDLLGS in isoform 5.
VSP_017758
Alternative sequence238 – 27437AFLVN…PEILR → GQAYWFTPVIPALWEAEARG SLE in isoform 3.
VSP_017759
Alternative sequence369 – 43870ENTQP…GYTMQ → TDWSSPVSARSTEGEEPAVG PGLPRLRGPFWKFPGPGHAG LGAHPLHHPVIQQEGFLPAP RGFGYRSEVD in isoform 6.
VSP_017760
Alternative sequence398 – 44649Missing in isoform 5.
VSP_017761
Alternative sequence439 – 587149Missing in isoform 6.
VSP_017762
Alternative sequence4981K → KHFVLQ in isoform 2 and isoform 5.
VSP_017763

Experimental info

Sequence conflict141L → M in AAQ88551. Ref.2
Sequence conflict3301S → T in ABB90560. Ref.1
Sequence conflict3411K → E in BAB15000. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 4, 2006. Version 2.
Checksum: 0FFAD006E3B9160D

FASTA58763,570
        10         20         30         40         50         60 
MRPRGLPPLL VVLLGCWASV SAQTDATPAV TTEGLNSTEA ALATFGTFPS TRPPGTPRAP 

        70         80         90        100        110        120 
GPSSGPRPTP VTDVAVLCVC DLSPAQCDIN CCCDPDCSSV DFSVFSACSV PVVTGDSQFC 

       130        140        150        160        170        180 
SQKAVIYSLN FTANPPQRVF ELVDQINPSI FCIHITNYKP ALSFINPEVP DENNFDTLMK 

       190        200        210        220        230        240 
TSDGFTLNAE SYVSFTTKLD IPTAAKYEYG VPLQTSDSFL RFPSSLTSSL CTDNNPAAFL 

       250        260        270        280        290        300 
VNQAVKCTRK INLEQCEEIE ALSMAFYSSP EILRVPDSRK KVPITVQSIV IQSLNKTLTR 

       310        320        330        340        350        360 
REDTDVLQPT LVNAGHFSLC VNVVLEVKYS LTYTDAGEVT KADLSFVLGT VSSVVVPLQQ 

       370        380        390        400        410        420 
KFEIHFLQEN TQPVPLSGNP GYVVGLPLAA GFQPHKGSGI IQTTNRYGQL TILHSTTEQD 

       430        440        450        460        470        480 
CLALEGVRTP VLFGYTMQSG CKLRLTGALP CQLVAQKVKS LLWGQGFPDY VAPFGNSQAQ 

       490        500        510        520        530        540 
DMLDWVPIHF ITQSFNRKDS CQLPGALVIE VKWTKYGSLL NPQAKIVNVT ANLISSSFPE 

       550        560        570        580 
ANSGNERTIL ISTAVTFVDV SAPAEAGFRA PPAINARLPF NFFFPFV 

« Hide

Isoform 2 [UniParc].

Checksum: 7A7452307CFF9844
Show »

FASTA59264,194
Isoform 3 [UniParc].

Checksum: 8D6DE4B551763306
Show »

FASTA57361,916
Isoform 4 [UniParc].

Checksum: 18BBEC27ECCE3B12
Show »

FASTA53158,018
Isoform 5 [UniParc].

Checksum: BF71AD96270313DB
Show »

FASTA48352,729
Isoform 6 [UniParc].

Checksum: 6396F9FB6AE91F2C
Show »

FASTA26028,532

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. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., 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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., 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.
CCDSCCDS41833.1. [Q2MV58-3]
CCDS41834.1. [Q2MV58-2]
CCDS41835.1. [Q2MV58-1]
RefSeqNP_001076006.1. NM_001082537.2. [Q2MV58-1]
NP_001076007.1. NM_001082538.2. [Q2MV58-2]
NP_001167446.1. NM_001173975.1. [Q2MV58-4]
NP_001167447.1. NM_001173976.1.
NP_078825.2. NM_024549.5. [Q2MV58-3]
UniGeneHs.211511.

3D structure databases

ProteinModelPortalQ2MV58.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000380779.

Polymorphism databases

DMDM91208022.

Proteomic databases

MaxQBQ2MV58.
PaxDbQ2MV58.
PRIDEQ2MV58.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377654; ENSP00000366882; ENSG00000204852. [Q2MV58-6]
ENST00000397655; ENSP00000380775; ENSG00000204852. [Q2MV58-3]
ENST00000397659; ENSP00000380779; ENSG00000204852. [Q2MV58-2]
ENST00000551590; ENSP00000448735; ENSG00000204852. [Q2MV58-1]
GeneID79600.
KEGGhsa:79600.
UCSCuc001trj.2. human. [Q2MV58-4]
uc001trm.3. human. [Q2MV58-5]
uc001trn.4. human. [Q2MV58-2]
uc001trp.4. human. [Q2MV58-3]
uc009zvs.3. human. [Q2MV58-1]

Organism-specific databases

CTD79600.
GeneCardsGC12P111051.
GeneReviewsTCTN1.
HGNCHGNC:26113. TCTN1.
HPAHPA039687.
HPA040036.
MIM609863. gene.
614173. phenotype.
neXtProtNX_Q2MV58.
Orphanet475. Joubert syndrome.
PharmGKBPA162405437.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG77647.
HOVERGENHBG083755.
OMATTNRYGQ.
OrthoDBEOG7S4X62.
PhylomeDBQ2MV58.
TreeFamTF329169.

Gene expression databases

ArrayExpressQ2MV58.
BgeeQ2MV58.
CleanExHS_TCTN1.
GenevestigatorQ2MV58.

Family and domain databases

InterProIPR011677. DUF1619.
[Graphical view]
PfamPF07773. DUF1619. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79600.
NextBio68626.
PROQ2MV58.
SOURCESearch...

Entry information

Entry nameTECT1_HUMAN
AccessionPrimary (citable) accession number: Q2MV58
Secondary accession number(s): A8MX11 expand/collapse secondary AC list , Q49A60, Q6P5X1, Q6UXW2, Q8NAE9, Q96N72, Q9H798
Entry history
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: July 9, 2014
This is version 69 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM