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Protein

Tectonic-3

Gene

TCTN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity2 Publications

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • cilium assembly Source: UniProtKB
  • smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Apoptosis, Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Tectonic-3
Gene namesi
Name:TCTN3
Synonyms:C10orf61, TECT3
ORF Names:PSEC0041, UNQ1881/PRO4324
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:24519. TCTN3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 581ExtracellularSequence analysisAdd BLAST559
Transmembranei582 – 602HelicalSequence analysisAdd BLAST21
Topological domaini603 – 607CytoplasmicSequence analysis5

GO - Cellular componenti

  • ciliary membrane Source: Reactome
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Orofaciodigital syndrome 4 (OFD4)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:258860
Joubert syndrome 18 (JBTS18)1 Publication
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 (PubMed:22883145).1 Publication
Disease descriptionA 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.
See also OMIM:614815
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068823314G → R in JBTS18. 1 PublicationCorresponds to variant rs793888508dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi26123.
MalaCardsiTCTN3.
MIMi258860. phenotype.
614815. phenotype.
OpenTargetsiENSG00000119977.
Orphaneti2754. Joubert syndrome with orofaciodigital defect.
2753. Orofaciodigital syndrome type 4.
PharmGKBiPA162405513.

Polymorphism and mutation databases

BioMutaiTCTN3.
DMDMi91208025.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000022992123 – 607Tectonic-3Add BLAST585

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi78N-linked (GlcNAc...)Sequence analysis1
Glycosylationi179N-linked (GlcNAc...)Sequence analysis1
Glycosylationi347N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6NUS6.
MaxQBiQ6NUS6.
PaxDbiQ6NUS6.
PeptideAtlasiQ6NUS6.
PRIDEiQ6NUS6.

PTM databases

iPTMnetiQ6NUS6.
PhosphoSitePlusiQ6NUS6.

Expressioni

Gene expression databases

BgeeiENSG00000119977.
CleanExiHS_TCTN3.
ExpressionAtlasiQ6NUS6. baseline and differential.
GenevisibleiQ6NUS6. HS.

Organism-specific databases

HPAiHPA026987.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi117565. 317 interactors.
IntActiQ6NUS6. 307 interactors.
MINTiMINT-4722379.
STRINGi9606.ENSP00000265993.

Structurei

3D structure databases

ProteinModelPortaliQ6NUS6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi90 – 109Cys-richAdd BLAST20

Sequence similaritiesi

Belongs to the tectonic family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFR0. Eukaryota.
ENOG4111GX2. LUCA.
GeneTreeiENSGT00570000079101.
HOGENOMiHOG000070061.
HOVERGENiHBG094032.
InParanoidiQ6NUS6.
KOiK19382.
PhylomeDBiQ6NUS6.
TreeFamiTF329169.

Family and domain databases

InterProiIPR011677. DUF1619.
[Graphical view]
PfamiPF07773. DUF1619. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6NUS6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MRTPQLALLQ VFFLVFPDGV RPQPSSSPSG AVPTSLELQR GTDGGTLQSP
60 70 80 90 100
SEATATRPAV PGLPTVVPTL VTPSAPGNRT VDLFPVLPIC VCDLTPGACD
110 120 130 140 150
INCCCDRDCY LLHPRTVFSF CLPGSVRSSS WVCVDNSVIF RSNSPFPSRV
160 170 180 190 200
FMDSNGIRQF CVHVNNSNLN YFQKLQKVNA TNFQALAAEF GGESFTSTFQ
210 220 230 240 250
TQSPPSFYRA GDPILTYFPK WSVISLLRQP AGVGAGGLCA ESNPAGFLES
260 270 280 290 300
KSTTCTRFFK NLASSCTLDS ALNAASYYNF TVLKVPRSMT DPQNMEFQVP
310 320 330 340 350
VILTSQANAP LLAGNTCQNV VSQVTYEIET NGTFGIQKVS VSLGQTNLTV
360 370 380 390 400
EPGASLQQHF ILRFRAFQQS TAASLTSPRS GNPGYIVGKP LLALTDDISY
410 420 430 440 450
SMTLLQSQGN GSCSVKRHEV QFGVNAISGC KLRLKKADCS HLQQEIYQTL
460 470 480 490 500
HGRPRPEYVA IFGNADPAQK GGWTRILNRH CSISAINCTS CCLIPVSLEI
510 520 530 540 550
QVLWAYVGLL SNPQAHVSGV RFLYQCQSIQ DSQQVTEVSL TTLVNFVDIT
560 570 580 590 600
QKPQPPRGQP KMDWKWPFDF FPFKVAFSRG VFSQKCSVSP ILILCLLLLG

VLNLETM
Length:607
Mass (Da):66,157
Last modified:April 4, 2006 - v2
Checksum:i41CE275DEDF358E6
GO
Isoform 2 (identifier: Q6NUS6-2) [UniParc]FASTAAdd to basket

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.
Show »
Length:443
Mass (Da):47,985
Checksum:i12499DB14EB8C0D2
GO
Isoform 3 (identifier: Q6NUS6-3) [UniParc]FASTAAdd to basket

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.
Show »
Length:429
Mass (Da):47,284
Checksum:iBA9CF7DC7490F6C3
GO
Isoform 4 (identifier: Q6NUS6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-211: AG → VS
     212-607: Missing.

Note: No experimental confirmation available.
Show »
Length:211
Mass (Da):22,846
Checksum:iBFFB9036766D2867
GO
Isoform 5 (identifier: Q6NUS6-5) [UniParc]FASTAAdd to basket

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.
Show »
Length:459
Mass (Da):50,258
Checksum:i3BCD657AE2F53BDB
GO

Sequence cautioni

The sequence AAH68449 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence ABB90564 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC11567 differs from that shown. Reason: Frameshift at position 238.Curated
The sequence BAC87634 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI16768 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30G → E in BAC11567 (PubMed:14702039).Curated1
Sequence conflicti492C → R in BAC11567 (PubMed:14702039).Curated1
Sequence conflicti516H → Q in CAB43242 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068823314G → R in JBTS18. 1 PublicationCorresponds to variant rs793888508dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0177911 – 151Missing in isoform 3. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_043266167 – 246SNLNY…SNPAG → C in isoform 5. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_017792210 – 211AG → VS in isoform 4. 1 Publication2
Alternative sequenceiVSP_017793212 – 607Missing in isoform 4. 1 PublicationAdd BLAST396
Alternative sequenceiVSP_043267297 – 365Missing in isoform 5. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_017794297 – 323Missing in isoform 3. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_017795402 – 443MTLLQ…CSHLQ → VSFLELGGLLQPNEKSCKGF QTYVRLAKGEEFFVHYNEVL IY in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_017796444 – 607Missing in isoform 2. 1 PublicationAdd BLAST164

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31258.2. [Q6NUS6-1]
CCDS44461.1. [Q6NUS6-5]
PIRiT08708.
RefSeqiNP_001137445.1. NM_001143973.1. [Q6NUS6-5]
NP_056446.4. NM_015631.5. [Q6NUS6-1]
UniGeneiHs.438991.

Genome annotation databases

EnsembliENST00000371209; ENSP00000360253; ENSG00000119977. [Q6NUS6-2]
ENST00000371217; ENSP00000360261; ENSG00000119977. [Q6NUS6-1]
ENST00000430368; ENSP00000387567; ENSG00000119977. [Q6NUS6-5]
ENST00000614499; ENSP00000483364; ENSG00000119977. [Q6NUS6-1]
GeneIDi26123.
KEGGihsa:26123.
UCSCiuc001klb.4. human. [Q6NUS6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31258.2. [Q6NUS6-1]
CCDS44461.1. [Q6NUS6-5]
PIRiT08708.
RefSeqiNP_001137445.1. NM_001143973.1. [Q6NUS6-5]
NP_056446.4. NM_015631.5. [Q6NUS6-1]
UniGeneiHs.438991.

3D structure databases

ProteinModelPortaliQ6NUS6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117565. 317 interactors.
IntActiQ6NUS6. 307 interactors.
MINTiMINT-4722379.
STRINGi9606.ENSP00000265993.

PTM databases

iPTMnetiQ6NUS6.
PhosphoSitePlusiQ6NUS6.

Polymorphism and mutation databases

BioMutaiTCTN3.
DMDMi91208025.

Proteomic databases

EPDiQ6NUS6.
MaxQBiQ6NUS6.
PaxDbiQ6NUS6.
PeptideAtlasiQ6NUS6.
PRIDEiQ6NUS6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371209; ENSP00000360253; ENSG00000119977. [Q6NUS6-2]
ENST00000371217; ENSP00000360261; ENSG00000119977. [Q6NUS6-1]
ENST00000430368; ENSP00000387567; ENSG00000119977. [Q6NUS6-5]
ENST00000614499; ENSP00000483364; ENSG00000119977. [Q6NUS6-1]
GeneIDi26123.
KEGGihsa:26123.
UCSCiuc001klb.4. human. [Q6NUS6-1]

Organism-specific databases

CTDi26123.
DisGeNETi26123.
GeneCardsiTCTN3.
GeneReviewsiTCTN3.
HGNCiHGNC:24519. TCTN3.
HPAiHPA026987.
MalaCardsiTCTN3.
MIMi258860. phenotype.
613847. gene.
614815. phenotype.
neXtProtiNX_Q6NUS6.
OpenTargetsiENSG00000119977.
Orphaneti2754. Joubert syndrome with orofaciodigital defect.
2753. Orofaciodigital syndrome type 4.
PharmGKBiPA162405513.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFR0. Eukaryota.
ENOG4111GX2. LUCA.
GeneTreeiENSGT00570000079101.
HOGENOMiHOG000070061.
HOVERGENiHBG094032.
InParanoidiQ6NUS6.
KOiK19382.
PhylomeDBiQ6NUS6.
TreeFamiTF329169.

Enzyme and pathway databases

ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

ChiTaRSiTCTN3. human.
GenomeRNAii26123.
PROiQ6NUS6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119977.
CleanExiHS_TCTN3.
ExpressionAtlasiQ6NUS6. baseline and differential.
GenevisibleiQ6NUS6. HS.

Family and domain databases

InterProiIPR011677. DUF1619.
[Graphical view]
PfamiPF07773. DUF1619. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTECT3_HUMAN
AccessioniPrimary (citable) accession number: Q6NUS6
Secondary accession number(s): A6NIC8
, B0QZ90, B4DR81, Q6P7P3, Q6UW27, Q6ZQQ0, Q8N7K1, Q8NBQ0, Q96GF7, Q9Y3U1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: November 30, 2016
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.