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Q6NUS6 (TECT3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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-3
Gene names
Name:TCTN3
Synonyms:C10orf61, TECT3
ORF Names:PSEC0041, UNQ1881/PRO4324
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length607 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.7 Ref.8

Subunit structure

Part of the tectonic-like complex (also named B9 complex) By similarity.

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Involvement in 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 mutations affecting the gene represented in this entry.

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.
Note: The disease is 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 (Ref.8). Ref.8

Sequence similarities

Belongs to the tectonic family.

Sequence caution

The sequence AAH68449.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence ABB90564.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAC11567.1 differs from that shown. Reason: Frameshift at position 238.

The sequence BAC87634.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAI16768.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6NUS6-1)

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: Q6NUS6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     402-443: MTLLQSQGNG...LKKADCSHLQ → VSFLELGGLL...FVHYNEVLIY
     444-607: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q6NUS6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: Missing.
     297-323: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 4 (identifier: Q6NUS6-4)

The sequence of this isoform differs from the canonical sequence as follows:
     210-211: AG → VS
     212-607: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q6NUS6-5)

The sequence of this isoform differs from the canonical sequence as follows:
     167-246: SNLNYFQKLQ...GLCAESNPAG → C
     297-365: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 607585Tectonic-3
PRO_0000229921

Regions

Topological domain23 – 581559Extracellular Potential
Transmembrane582 – 60221Helical; Potential
Topological domain603 – 6075Cytoplasmic Potential
Compositional bias90 – 10920Cys-rich

Amino acid modifications

Glycosylation781N-linked (GlcNAc...) Potential
Glycosylation1791N-linked (GlcNAc...) Potential
Glycosylation3471N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 151151Missing in isoform 3.
VSP_017791
Alternative sequence167 – 24680SNLNY…SNPAG → C in isoform 5.
VSP_043266
Alternative sequence210 – 2112AG → VS in isoform 4.
VSP_017792
Alternative sequence212 – 607396Missing in isoform 4.
VSP_017793
Alternative sequence297 – 36569Missing in isoform 5.
VSP_043267
Alternative sequence297 – 32327Missing in isoform 3.
VSP_017794
Alternative sequence402 – 44342MTLLQ…CSHLQ → VSFLELGGLLQPNEKSCKGF QTYVRLAKGEEFFVHYNEVL IY in isoform 2.
VSP_017795
Alternative sequence444 – 607164Missing in isoform 2.
VSP_017796
Natural variant3141G → R in JBTS18. Ref.8
VAR_068823

Experimental info

Sequence conflict301G → E in BAC11567. Ref.3
Sequence conflict4921C → R in BAC11567. Ref.3
Sequence conflict5161H → Q in CAB43242. Ref.4

Sequences

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

Last modified April 4, 2006. Version 2.
Checksum: 41CE275DEDF358E6

FASTA60766,157
        10         20         30         40         50         60 
MRTPQLALLQ VFFLVFPDGV RPQPSSSPSG AVPTSLELQR GTDGGTLQSP SEATATRPAV 

        70         80         90        100        110        120 
PGLPTVVPTL VTPSAPGNRT VDLFPVLPIC VCDLTPGACD INCCCDRDCY LLHPRTVFSF 

       130        140        150        160        170        180 
CLPGSVRSSS WVCVDNSVIF RSNSPFPSRV FMDSNGIRQF CVHVNNSNLN YFQKLQKVNA 

       190        200        210        220        230        240 
TNFQALAAEF GGESFTSTFQ TQSPPSFYRA GDPILTYFPK WSVISLLRQP AGVGAGGLCA 

       250        260        270        280        290        300 
ESNPAGFLES KSTTCTRFFK NLASSCTLDS ALNAASYYNF TVLKVPRSMT DPQNMEFQVP 

       310        320        330        340        350        360 
VILTSQANAP LLAGNTCQNV VSQVTYEIET NGTFGIQKVS VSLGQTNLTV EPGASLQQHF 

       370        380        390        400        410        420 
ILRFRAFQQS TAASLTSPRS GNPGYIVGKP LLALTDDISY SMTLLQSQGN GSCSVKRHEV 

       430        440        450        460        470        480 
QFGVNAISGC KLRLKKADCS HLQQEIYQTL HGRPRPEYVA IFGNADPAQK GGWTRILNRH 

       490        500        510        520        530        540 
CSISAINCTS CCLIPVSLEI QVLWAYVGLL SNPQAHVSGV RFLYQCQSIQ DSQQVTEVSL 

       550        560        570        580        590        600 
TTLVNFVDIT QKPQPPRGQP KMDWKWPFDF FPFKVAFSRG VFSQKCSVSP ILILCLLLLG 


VLNLETM 

« Hide

Isoform 2 [UniParc].

Checksum: 12499DB14EB8C0D2
Show »

FASTA44347,985
Isoform 3 [UniParc].

Checksum: BA9CF7DC7490F6C3
Show »

FASTA42947,284
Isoform 4 [UniParc].

Checksum: BFFB9036766D2867
Show »

FASTA21122,846
Isoform 5 [UniParc].

Checksum: 3BCD657AE2F53BDB
Show »

FASTA45950,258

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 1).
[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 1; 3; 4 AND 5).
Tissue: Teratocarcinoma, Testis and Uterus.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[5]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-607 (ISOFORM 2).
Tissue: Lung, Testis and Uterus.
[7]"Identification of novel regulators of apoptosis using a high-throughput cell-based screen."
Park K.M., Kang E., Jeon Y.-J., Kim N., Kim N.-S., Yoo H.-S., Yeom Y.I., Kim S.J.
Mol. Cells 23:170-174(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[8]"TCTN3 mutations cause Mohr-Majewski syndrome."
Thomas S., Legendre M., Saunier S., Bessieres B., Alby C., Bonniere M., Toutain A., Loeuillet L., Szymanska K., Jossic F., Gaillard D., Yacoubi M.T., Mougou-Zerelli S., David A., Barthez M.A., Ville Y., Bole-Feysot C., Nitschke P. expand/collapse author list , Lyonnet S., Munnich A., Johnson C.A., Encha-Razavi F., Cormier-Daire V., Thauvin-Robinet C., Vekemans M., Attie-Bitach T.
Am. J. Hum. Genet. 91:372-378(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN OFDS4, VARIANT JBTS18 ARG-314.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ278872 mRNA. Translation: ABB90564.1. Different initiation.
AK075357 mRNA. Translation: BAC11567.1. Frameshift.
AY359022 mRNA. Translation: AAQ89381.1.
AK098295 mRNA. Translation: BAC05278.1.
AK128834 mRNA. Translation: BAC87634.1. Different initiation.
AK299141 mRNA. Translation: BAG61193.1.
AL050022 mRNA. Translation: CAB43242.2.
AL356632 Genomic DNA. Translation: CAI16768.2. Different initiation.
AL356632 Genomic DNA. Translation: CAQ07589.1.
BC009494 mRNA. Translation: AAH09494.2.
BC061582 mRNA. Translation: AAH61582.1.
BC068449 mRNA. Translation: AAH68449.2. Different initiation.
PIRT08708.
RefSeqNP_001137445.1. NM_001143973.1.
NP_056446.4. NM_015631.5.
UniGeneHs.438991.

3D structure databases

ProteinModelPortalQ6NUS6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117565. 1 interaction.
MINTMINT-4722379.

PTM databases

PhosphoSiteQ6NUS6.

Polymorphism databases

DMDM91208025.

Proteomic databases

PaxDbQ6NUS6.
PRIDEQ6NUS6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265993; ENSP00000265993; ENSG00000119977.
ENST00000371209; ENSP00000360253; ENSG00000119977. [Q6NUS6-2]
ENST00000371217; ENSP00000360261; ENSG00000119977. [Q6NUS6-1]
ENST00000430368; ENSP00000387567; ENSG00000119977. [Q6NUS6-5]
GeneID26123.
KEGGhsa:26123.
UCSCuc001klb.4. human. [Q6NUS6-1]
uc001kld.3. human. [Q6NUS6-2]
uc009xux.1. human. [Q6NUS6-3]
uc010qoi.2. human. [Q6NUS6-5]

Organism-specific databases

CTD26123.
GeneCardsGC10M097414.
HGNCHGNC:24519. TCTN3.
HPAHPA026987.
MIM258860. phenotype.
613847. gene.
614815. phenotype.
neXtProtNX_Q6NUS6.
Orphanet2754. Joubert syndrome with orofaciodigital defect.
2753. Orofaciodigital syndrome type 4.
PharmGKBPA162405513.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG87342.
HOGENOMHOG000070061.
HOVERGENHBG094032.
InParanoidQ6NUS6.
OrthoDBEOG7S4X62.
PhylomeDBQ6NUS6.
TreeFamTF329169.

Gene expression databases

BgeeQ6NUS6.
CleanExHS_TCTN3.
GenevestigatorQ6NUS6.

Family and domain databases

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

Other

GenomeRNAi26123.
NextBio48139.
PROQ6NUS6.
SOURCESearch...

Entry information

Entry nameTECT3_HUMAN
AccessionPrimary (citable) accession number: Q6NUS6
Secondary accession number(s): A6NIC8 expand/collapse secondary AC list , B0QZ90, B4DR81, Q6P7P3, Q6UW27, Q6ZQQ0, Q8N7K1, Q8NBQ0, Q96GF7, Q9Y3U1
Entry history
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: April 16, 2014
This is version 79 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM