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TCTN1 tectonic family member 1 [ Homo sapiens (human) ]

Gene ID: 79600, updated on 2-Nov-2024

Summary

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Official Symbol
TCTN1provided by HGNC
Official Full Name
tectonic family member 1provided by HGNC
Primary source
HGNC:HGNC:26113
See related
Ensembl:ENSG00000204852 MIM:609863; AllianceGenome:HGNC:26113
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TECT1; JBTS13
Summary
This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Broad expression in testis (RPKM 9.1), thyroid (RPKM 8.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See TCTN1 in Genome Data Viewer
Location:
12q24.11
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110614129..110649430)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110591820..110627124)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111051934..111087235)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903015 Neighboring gene small nucleolar RNA SNORD50 Neighboring gene Sharpr-MPRA regulatory region 4252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7006 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110953094-110953337 Neighboring gene VPS29 retromer complex component Neighboring gene RAD9 checkpoint clamp component B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110978258-110978758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110978759-110979259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7008 Neighboring gene protein phosphatase targeting COQ7 Neighboring gene HNF4 motif-containing MPRA enhancer 250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7013 Neighboring gene RNA, 7SL, cytoplasmic 387, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111099215-111099717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7016 Neighboring gene uncharacterized LOC124903017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7019 Neighboring gene hydrogen voltage gated channel 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111124990-111125818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7026 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111180421-111180929

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Function and transcriptional regulation of TCTN1 in oral squamous cell carcinoma. Bai G, et al. Oncol Rep, 2022 Feb. PMID 34859261, Free PMC Article
  2. Molecular characterization of Joubert syndrome in Saudi Arabia. Alazami AM, et al. Hum Mutat, 2012 Oct. PMID 22693042
  3. Expression and prognostic significance of TCTN1 in human glioblastoma. Meng D, et al. J Transl Med, 2014 Oct 11. PMID 25304031, Free PMC Article
  4. Lentivirus-Mediated Knockdown of TCTN1 Inhibits Glioma Cell Proliferation. Li J, et al. Appl Biochem Biotechnol, 2015 May. PMID 25737023
  5. Tectonic 1 accelerates gastric cancer cell proliferation and cell cycle progression in vitro. Wang X, et al. Mol Med Rep, 2015 Oct. PMID 26252641

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. microRNA-216a-5p inhibits the development of gastric cancer through target combination with TCTN1.
    Title: microRNA-216a-5p inhibits the development of gastric cancer through target combination with TCTN1.
  2. Function and transcriptional regulation of TCTN1 in oral squamous cell carcinoma.
    Title: Function and transcriptional regulation of TCTN1 in oral squamous cell carcinoma.
  3. Two novel TCTN1 mutations were identified in a family with Joubert syndrome
    Title: [Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing].
  4. we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome.
    Title: Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
  5. Flow cytometry analysis showed that depletion of TCTN1 could cause cell cycle arrest at the G2/M phase. This indicates that TCTN1 may be crucial for CRC cell growth.
    Title: Knockdown of TCTN1 Strongly Decreases Growth of Human Colon Cancer Cells.
  6. These findings confirmed the direct association between the TCTN1 gene and prostate cancer growth in vitro.
    Title: Tectonic‑1 contributes to the growth and migration of prostate cancer cells in vitro.
  7. These data suggest TCTN1 is essential for glioma cell viability, and dysregulation of TCTN1 may play a key role in glioma tumorigenesis.
    Title: Lentivirus-Mediated Knockdown of TCTN1 Inhibits Glioma Cell Proliferation.
  8. TCTN1 may serve as a novel prognostic factor and a potential therapeutic target for glioblastoma.
    Title: Expression and prognostic significance of TCTN1 in human glioblastoma.
  9. Mutations in Tctn1 is associated with ciliopathies.
    Title: A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Joubert syndrome 13
MedGen: C3280031 OMIM: 614173 GeneReviews: Joubert Syndrome
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21127

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in central nervous system interneuron axonogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in neural tube formation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in somatic motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in telencephalon development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of MKS complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
tectonic-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030381.1 RefSeqGene

    Range
    5103..40404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001082537.3 → NP_001076006.1  tectonic-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001076006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC144522, AK295514, BC062611, CA419765
    Consensus CDS
    CCDS41835.1
    UniProtKB/Swiss-Prot
    A8MX11, Q2MV58, Q49A60, Q6P5X1, Q6UXW2, Q8NAE9, Q96N72, Q9H798
    UniProtKB/TrEMBL
    A0A0A0MRU7
    Related
    ENSP00000448735.1, ENST00000551590.5
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 387
    DUF1619; Protein of unknown function (DUF1619)

  2. NM_001082538.3 → NP_001076007.1  tectonic-1 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC144522, AK295514, AY358184, CA419765
    Consensus CDS
    CCDS41834.1
    UniProtKB/TrEMBL
    A0A0A0MRU7
    Related
    ENSP00000380779.4, ENST00000397659.9
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 387
    DUF1619; Protein of unknown function (DUF1619)

  3. NM_001173975.3 → NP_001167446.1  tectonic-1 isoform 4

    See identical proteins and their annotated locations for NP_001167446.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, initiates translation at an alternate start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK092775, AK295514, CA419765
    UniProtKB/TrEMBL
    A0A0A0MRU7
    Conserved Domains (1) summary
    pfam07773
    Location:22 → 331
    DUF1619; Protein of unknown function (DUF1619)

  4. NM_001173976.2 → NP_001167447.1  tectonic-1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes an alternate exon in the 5' region, initiates translation at an alternate start codon, and lacks an in-frame exon and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK024780, AK055891, CA419765
    UniProtKB/TrEMBL
    A0A0A0MRU7
    Conserved Domains (1) summary
    pfam07773
    Location:18 → 327
    DUF1619; Protein of unknown function (DUF1619)

  5. NM_001319680.2 → NP_001306609.1  tectonic-1 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon and uses two alternate in-frame splice sites in the 3' coding region compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AC002350, AC144522
    Consensus CDS
    CCDS91749.1
    UniProtKB/TrEMBL
    A0A087X1J4, A0A0A0MRU7
    Related
    ENSP00000484255.2, ENST00000614115.5
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 387
    DUF1619; Protein of unknown function (DUF1619)

  6. NM_001319681.2 → NP_001306610.1  tectonic-1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate exon in the 5' region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (7) has a shorter N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK295514, AK301732, CA419765
    UniProtKB/TrEMBL
    A8MW34, B7Z7A7
    Conserved Domains (1) summary
    pfam07773
    Location:1 → 209
    DUF1619; Protein of unknown function (DUF1619)

  7. NM_001319682.3 → NP_001306611.1  tectonic-1 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in the 5' region, initiates translation at an alternate start codon, lacks multiple 3' coding exons, and contains an alternate 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (8) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AC144522, AK295514, BC033811
    UniProtKB/TrEMBL
    Q05BR9
    Conserved Domains (1) summary
    pfam07773
    Location:22 → 153
    DUF1619; Protein of unknown function (DUF1619)

  8. NM_024549.6 → NP_078825.2  tectonic-1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_078825.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains an alternate in-frame exon in the central coding region and an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 3).
    Source sequence(s)
    AC144522, AK295514, BC040113, CA419765
    Consensus CDS
    CCDS41833.1
    UniProtKB/TrEMBL
    A0A0A0MRU7
    Related
    ENSP00000380775.3, ENST00000397655.7
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 373
    DUF1619; Protein of unknown function (DUF1619)

RNA

  1. NR_135088.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in the 5' terminal exon, contains an alternate exon in the 5' region, and lacks two exons and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC144522, AK295514, BC044885, CA419765
    Related
    ENST00000464809.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    110614129..110649430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719594.4 → XP_006719657.1  tectonic-1 isoform X4

    UniProtKB/TrEMBL
    A0A0A0MRU7
    Conserved Domains (1) summary
    pfam07773
    Location:22 → 331
    DUF1619; Protein of unknown function (DUF1619)

  2. XM_017019964.2 → XP_016875453.1  tectonic-1 isoform X9

    UniProtKB/TrEMBL
    A0A0A0MRU7

  3. XM_047429539.1 → XP_047285495.1  tectonic-1 isoform X11

  4. XM_011538734.4 → XP_011537036.1  tectonic-1 isoform X2

    UniProtKB/TrEMBL
    A0A0A0MRU7
    Conserved Domains (1) summary
    pfam07773
    Location:89 → 367
    DUF1619; Protein of unknown function (DUF1619)

  5. XM_006719595.4 → XP_006719658.1  tectonic-1 isoform X16

    See identical proteins and their annotated locations for XP_006719658.1

    Conserved Domains (1) summary
    pfam07773
    Location:1 → 209
    DUF1619; Protein of unknown function (DUF1619)

  6. XM_011538733.4 → XP_011537035.1  tectonic-1 isoform X1

    UniProtKB/TrEMBL
    A0A0A0MRU7
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 373
    DUF1619; Protein of unknown function (DUF1619)

  7. XM_047429536.1 → XP_047285492.1  tectonic-1 isoform X5

  8. XM_047429538.1 → XP_047285494.1  tectonic-1 isoform X8

  9. XM_047429542.1 → XP_047285498.1  tectonic-1 isoform X17

  10. XM_011538735.3 → XP_011537037.1  tectonic-1 isoform X3

    UniProtKB/TrEMBL
    A0A0A0MRU7
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 387
    DUF1619; Protein of unknown function (DUF1619)

  11. XM_011538737.4 → XP_011537039.1  tectonic-1 isoform X6

    UniProtKB/TrEMBL
    A0A0A0MRU7
    Related
    ENSP00000366882.5, ENST00000377654.5
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 379
    DUF1619; Protein of unknown function (DUF1619)

  12. XM_011538738.4 → XP_011537040.1  tectonic-1 isoform X10

    UniProtKB/TrEMBL
    F8VQ12
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 326
    DUF1619; Protein of unknown function (DUF1619)

  13. XM_005253934.5 → XP_005253991.1  tectonic-1 isoform X14

    UniProtKB/TrEMBL
    F8VQ12
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 326
    DUF1619; Protein of unknown function (DUF1619)

  14. XM_005253935.5 → XP_005253992.1  tectonic-1 isoform X15

    UniProtKB/TrEMBL
    F8VQ12
    Related
    ENSP00000450154.2, ENST00000549123.6
    Conserved Domains (1) summary
    pfam07773
    Location:78 → 362
    DUF1619; Protein of unknown function (DUF1619)

  15. XM_006719597.5 → XP_006719660.1  tectonic-1 isoform X16

    See identical proteins and their annotated locations for XP_006719660.1

    Conserved Domains (1) summary
    pfam07773
    Location:1 → 209
    DUF1619; Protein of unknown function (DUF1619)

  16. XM_047429544.1 → XP_047285500.1  tectonic-1 isoform X19

  17. XM_047429537.1 → XP_047285493.1  tectonic-1 isoform X7

  18. XM_047429540.1 → XP_047285496.1  tectonic-1 isoform X12

  19. XM_047429541.1 → XP_047285497.1  tectonic-1 isoform X13

    Related
    ENSP00000473903.2, ENST00000471804.7

  20. XM_047429543.1 → XP_047285499.1  tectonic-1 isoform X18

  21. XM_006719600.4 → XP_006719663.1  tectonic-1 isoform X16

    See identical proteins and their annotated locations for XP_006719663.1

    Conserved Domains (1) summary
    pfam07773
    Location:1 → 209
    DUF1619; Protein of unknown function (DUF1619)

  22. XM_006719598.4 → XP_006719661.1  tectonic-1 isoform X16

    See identical proteins and their annotated locations for XP_006719661.1

    Conserved Domains (1) summary
    pfam07773
    Location:1 → 209
    DUF1619; Protein of unknown function (DUF1619)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    110591820..110627124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373210.1 → XP_054229185.1  tectonic-1 isoform X4

  2. XM_054373215.1 → XP_054229190.1  tectonic-1 isoform X9

  3. XM_054373217.1 → XP_054229192.1  tectonic-1 isoform X11

  4. XM_054373208.1 → XP_054229183.1  tectonic-1 isoform X2

  5. XM_054373222.1 → XP_054229197.1  tectonic-1 isoform X16

  6. XM_054373207.1 → XP_054229182.1  tectonic-1 isoform X1

  7. XM_054373211.1 → XP_054229186.1  tectonic-1 isoform X5

  8. XM_054373214.1 → XP_054229189.1  tectonic-1 isoform X8

  9. XM_054373225.1 → XP_054229200.1  tectonic-1 isoform X17

  10. XM_054373209.1 → XP_054229184.1  tectonic-1 isoform X3

  11. XM_054373212.1 → XP_054229187.1  tectonic-1 isoform X6

  12. XM_054373216.1 → XP_054229191.1  tectonic-1 isoform X10

  13. XM_054373220.1 → XP_054229195.1  tectonic-1 isoform X14

  14. XM_054373221.1 → XP_054229196.1  tectonic-1 isoform X15

  15. XM_054373228.1 → XP_054229203.1  tectonic-1 isoform X16

  16. XM_054373227.1 → XP_054229202.1  tectonic-1 isoform X19

  17. XM_054373213.1 → XP_054229188.1  tectonic-1 isoform X7

  18. XM_054373218.1 → XP_054229193.1  tectonic-1 isoform X12

  19. XM_054373219.1 → XP_054229194.1  tectonic-1 isoform X13

  20. XM_054373226.1 → XP_054229201.1  tectonic-1 isoform X18

  21. XM_054373224.1 → XP_054229199.1  tectonic-1 isoform X16

  22. XM_054373223.1 → XP_054229198.1  tectonic-1 isoform X16

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2MV58.2 GenPept UniProtKB/Swiss-Prot:Q2MV58

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