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Protein

Tectonic-3

Gene

TCTN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • ciliary basal body-plasma membrane docking Source: Reactome
  • cilium assembly Source: UniProtKB
  • positive regulation of apoptotic process Source: UniProtKB
  • smoothened signaling pathway Source: UniProtKB

Keywordsi

Biological processApoptosis, Cilium biogenesis/degradation

Enzyme and pathway databases

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

Protein family/group databases

MoonDBiQ6NUS6 Predicted

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

EuPathDBiHostDB:ENSG00000119977.20
HGNCiHGNC:24519 TCTN3
MIMi613847 gene
neXtProtiNX_Q6NUS6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 dbSNP:rs793888508EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi26123
GeneReviewsiTCTN3
MalaCardsiTCTN3
MIMi258860 phenotype
614815 phenotype
OpenTargetsiENSG00000119977
Orphaneti2753 Orofaciodigital syndrome type 4
2754 Orofaciodigital syndrome type 6
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...) asparagineSequence analysis1
Glycosylationi179N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi347N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6NUS6
MaxQBiQ6NUS6
PaxDbiQ6NUS6
PeptideAtlasiQ6NUS6
PRIDEiQ6NUS6
ProteomicsDBi66705
66706 [Q6NUS6-2]
66707 [Q6NUS6-3]
66708 [Q6NUS6-4]
66709 [Q6NUS6-5]

PTM databases

iPTMnetiQ6NUS6
PhosphoSitePlusiQ6NUS6

Expressioni

Gene expression databases

BgeeiENSG00000119977 Expressed in 210 organ(s), highest expression level in corpus epididymis
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, 319 interactors
IntActiQ6NUS6, 307 interactors
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

InterProiView protein in InterPro
IPR011677 DUF1619
PfamiView protein in Pfam
PF07773 DUF1619, 1 hit

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

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFN5A0A0C4DFN5_HUMAN
Chromosome 10 open reading frame 61
TCTN3 C10orf61, hCG_39491
625Annotation score:

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

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_07752195T → P Found in a patient with Joubert syndrome also carrying 2 mutations in MKS1 gene, a deletion in intron 15 and a missense mutation 'C-80'; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749447795EnsemblClinVar.1
Natural variantiVAR_068823314G → R in JBTS18. 1 PublicationCorresponds to variant dbSNP:rs793888508EnsemblClinVar.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 No translation available.
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

Similar proteinsi

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 No translation available.
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, 319 interactors
IntActiQ6NUS6, 307 interactors
STRINGi9606.ENSP00000265993

Protein family/group databases

MoonDBiQ6NUS6 Predicted

PTM databases

iPTMnetiQ6NUS6
PhosphoSitePlusiQ6NUS6

Polymorphism and mutation databases

BioMutaiTCTN3
DMDMi91208025

Proteomic databases

EPDiQ6NUS6
MaxQBiQ6NUS6
PaxDbiQ6NUS6
PeptideAtlasiQ6NUS6
PRIDEiQ6NUS6
ProteomicsDBi66705
66706 [Q6NUS6-2]
66707 [Q6NUS6-3]
66708 [Q6NUS6-4]
66709 [Q6NUS6-5]

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
EuPathDBiHostDB:ENSG00000119977.20
GeneCardsiTCTN3
GeneReviewsiTCTN3
HGNCiHGNC:24519 TCTN3
HPAiHPA026987
MalaCardsiTCTN3
MIMi258860 phenotype
613847 gene
614815 phenotype
neXtProtiNX_Q6NUS6
OpenTargetsiENSG00000119977
Orphaneti2753 Orofaciodigital syndrome type 4
2754 Orofaciodigital syndrome type 6
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
PROiPR:Q6NUS6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119977 Expressed in 210 organ(s), highest expression level in corpus epididymis
CleanExiHS_TCTN3
ExpressionAtlasiQ6NUS6 baseline and differential
GenevisibleiQ6NUS6 HS

Family and domain databases

InterProiView protein in InterPro
IPR011677 DUF1619
PfamiView protein in Pfam
PF07773 DUF1619, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: November 7, 2018
This is version 118 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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