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

    Gene ID: 79600, updated on 28-Oct-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001082537.3NP_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:78387
      DUF1619; Protein of unknown function (DUF1619)
    2. NM_001082538.3NP_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:78387
      DUF1619; Protein of unknown function (DUF1619)
    3. NM_001173975.3NP_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:22331
      DUF1619; Protein of unknown function (DUF1619)
    4. NM_001173976.2NP_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:18327
      DUF1619; Protein of unknown function (DUF1619)
    5. NM_001319680.2NP_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:78387
      DUF1619; Protein of unknown function (DUF1619)
    6. NM_001319681.2NP_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:1209
      DUF1619; Protein of unknown function (DUF1619)
    7. NM_001319682.3NP_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:22153
      DUF1619; Protein of unknown function (DUF1619)
    8. NM_024549.6NP_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:78373
      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_006719594.4XP_006719657.1  tectonic-1 isoform X4

      UniProtKB/TrEMBL
      A0A0A0MRU7
      Conserved Domains (1) summary
      pfam07773
      Location:22331
      DUF1619; Protein of unknown function (DUF1619)
    2. XM_017019964.2XP_016875453.1  tectonic-1 isoform X9

      UniProtKB/TrEMBL
      A0A0A0MRU7
    3. XM_047429539.1XP_047285495.1  tectonic-1 isoform X11

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

      UniProtKB/TrEMBL
      A0A0A0MRU7
      Conserved Domains (1) summary
      pfam07773
      Location:89367
      DUF1619; Protein of unknown function (DUF1619)
    5. XM_006719595.4XP_006719658.1  tectonic-1 isoform X16

      See identical proteins and their annotated locations for XP_006719658.1

      Conserved Domains (1) summary
      pfam07773
      Location:1209
      DUF1619; Protein of unknown function (DUF1619)
    6. XM_011538733.4XP_011537035.1  tectonic-1 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MRU7
      Conserved Domains (1) summary
      pfam07773
      Location:78373
      DUF1619; Protein of unknown function (DUF1619)
    7. XM_047429536.1XP_047285492.1  tectonic-1 isoform X5

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

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

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

      UniProtKB/TrEMBL
      A0A0A0MRU7
      Conserved Domains (1) summary
      pfam07773
      Location:78387
      DUF1619; Protein of unknown function (DUF1619)
    11. XM_011538737.4XP_011537039.1  tectonic-1 isoform X6

      UniProtKB/TrEMBL
      A0A0A0MRU7
      Related
      ENSP00000366882.5, ENST00000377654.5
      Conserved Domains (1) summary
      pfam07773
      Location:78379
      DUF1619; Protein of unknown function (DUF1619)
    12. XM_011538738.4XP_011537040.1  tectonic-1 isoform X10

      UniProtKB/TrEMBL
      F8VQ12
      Conserved Domains (1) summary
      pfam07773
      Location:78326
      DUF1619; Protein of unknown function (DUF1619)
    13. XM_005253934.5XP_005253991.1  tectonic-1 isoform X14

      UniProtKB/TrEMBL
      F8VQ12
      Conserved Domains (1) summary
      pfam07773
      Location:78326
      DUF1619; Protein of unknown function (DUF1619)
    14. XM_005253935.5XP_005253992.1  tectonic-1 isoform X15

      UniProtKB/TrEMBL
      F8VQ12
      Related
      ENSP00000450154.2, ENST00000549123.6
      Conserved Domains (1) summary
      pfam07773
      Location:78362
      DUF1619; Protein of unknown function (DUF1619)
    15. XM_006719597.5XP_006719660.1  tectonic-1 isoform X16

      See identical proteins and their annotated locations for XP_006719660.1

      Conserved Domains (1) summary
      pfam07773
      Location:1209
      DUF1619; Protein of unknown function (DUF1619)
    16. XM_047429544.1XP_047285500.1  tectonic-1 isoform X19

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

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

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

      Related
      ENSP00000473903.2, ENST00000471804.7
    20. XM_047429543.1XP_047285499.1  tectonic-1 isoform X18

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

      See identical proteins and their annotated locations for XP_006719663.1

      Conserved Domains (1) summary
      pfam07773
      Location:1209
      DUF1619; Protein of unknown function (DUF1619)
    22. XM_006719598.4XP_006719661.1  tectonic-1 isoform X16

      See identical proteins and their annotated locations for XP_006719661.1

      Conserved Domains (1) summary
      pfam07773
      Location:1209
      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_054373210.1XP_054229185.1  tectonic-1 isoform X4

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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